SitesBLAST

SitesBLAST – Find functional sites

SitesBLAST

Comparing WP_043690930.1 NCBI__GCF_000559025.1:WP_043690930.1 to proteins with known functional sites using BLASTp with E ≤ 0.001.

Or try Sites on a Tree, PaperBLAST, Conserved Domains, or compare to all protein structures

Found 20 (the maximum) hits to proteins with known functional sites (download)

4yerA Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution
38% identity, 67% coverage: 14:228/319 of query aligns to 5:219/285 of 4yerA

query
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binding adenosine-5'-diphosphate: F14 (≠ Y23), F17 (≠ V27), N39 (= N49), G40 (= G50), G42 (= G52), K43 (= K53), T44 (≠ S54), T45 (= T55), T135 (= T145), F136 (≠ L146), S137 (= S147)

8ee6A Cryo-em structure of human abca7 in pe/ch nanodiscs (see paper)
33% identity, 96% coverage: 9:315/319 of query aligns to 619:936/1808 of 8ee6A

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binding phosphothiophosphoric acid-adenylate ester: F633 (≠ Y23), A640 (= A29), N660 (= N49), G661 (= G50), G663 (= G52), K664 (= K53), T665 (≠ S54), T666 (= T55)

Sites not aligning to the query:

binding phosphothiophosphoric acid-adenylate ester: 607, 608, 1507, 1514, 1535, 1536, 1537, 1538, 1539

7tbwA The structure of atp-bound abca1 (see paper)
31% identity, 95% coverage: 13:316/319 of query aligns to 753:1052/1928 of 7tbwA

query
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7tbwA

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binding adenosine-5'-triphosphate: Y763 (= Y23), D765 (≠ G25), K768 (≠ E28), N790 (= N49), G791 (= G50), G793 (= G52), K794 (= K53), T795 (≠ S54), Q835 (= Q94), Q887 (≠ T145), S889 (= S147), H944 (= H203)
binding magnesium ion: Q835 (= Q94), D912 (= D170), Q913 (≠ E171)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1630, 1633, 1657, 1658, 1660, 1661, 1662, 1663, 1702, 1753, 1755, 1756, 1757, 1779, 1783, 1811
binding cholesterol: 218, 219, 360, 367
binding magnesium ion: 1662, 1702

O95477 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) (see 35 papers)
36% identity, 70% coverage: 13:236/319 of query aligns to 898:1122/2261 of O95477

query
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O95477

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D917 (≠ R31) to Y: in a colorectal cancer sample; somatic mutation
T929 (≠ Y43) to I: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane; dbSNP:rs1832457117
N935 (= N49) to S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs28937313
K939 (= K53) mutation to M: Inhibits ATPase activity; when associated with M-1952. Decreases translocase activity; when associated with M-1952. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-1952.
S1042 (≠ M155) modified: Phosphoserine; by PKA
P1065 (≠ I178) natural variant: P -> S
M1091 (≠ L205) to T: in FHA1; loss of localization to plasma membrane; decreased cholesterol efflux; decreased phospholipid efflux
C1110 (≠ V224) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1111.
C1111 (≠ E225) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1110.

Sites not aligning to the query:

3 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased cholesterol efflux. Decreased phospholipid efflux. Decreased palmitoylation; when associated with S-23, S-1110 and S-1111.
23 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased palmitoylation; when associated with S-3, S-1110 and S-1111.
74 I→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.; I→K: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-371.
75 modified: Disulfide link with 309
85 P → L: in FHA1; Alabama; dbSNP:rs145183203
98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
100 S→C: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
210 E → D: in a colorectal cancer sample; somatic mutation
219 R → K: in dbSNP:rs2230806
230 R → C: in dbSNP:rs9282541
244 modified: carbohydrate, N-linked (GlcNAc...) asparagine
248 P → A: in dbSNP:rs142625938
255 A → T: in TGD; deficient cellular cholesterol efflux; dbSNP:rs758100110
304 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-308.
308 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-304.
309 modified: Disulfide link with 75
364 S → C: in dbSNP:rs775035559
371 I→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane. 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-74 or C-375.; I→E: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-74.
375 L→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.
399 V → A: in dbSNP:rs9282543
401 K → Q: in dbSNP:rs138487227
496 R → W: in dbSNP:rs147675550
568 K→A: 60-65% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane.
573 Y→F: No effect on phospholipid and cholesterol efflux and on localization to cell membrane.
581 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-584 and K-585.
583 F→K: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-590.
584 E→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-585.
585 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-584.
590 W → S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs137854496; W→E: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-583.
593 F→L: Moderately decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
638 R → Q: in dbSNP:rs374190304
771 V → M: in dbSNP:rs2066718
774 T → P: in dbSNP:rs35819696; natural variant: T -> S
776 K → N: in dbSNP:rs138880920
815 E → G: in dbSNP:rs145582736
825 V → I: in dbSNP:rs2066715
883 I → M: in dbSNP:rs2066714
1172 E → D: in dbSNP:rs33918808
1181 S → F: in dbSNP:rs76881554
1216 G → V: in dbSNP:rs562403512
1341 R → T: in dbSNP:rs147743782
1376 S → G: in dbSNP:rs145689805
1379 L → F: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane; dbSNP:rs1831213945
1407 A → T: in a colorectal cancer sample; somatic mutation; dbSNP:rs189206655
1463 modified: Disulfide link with 1477
1477 modified: Disulfide link with 1463; C → R: in TGD; loss of interaction with APOE; unable to generate APOE-containing high density lipoproteins; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs137854494
1512 T→M: Moderately decreased protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
1555 I → T: in dbSNP:rs1997618
1587 K → R: in dbSNP:rs2230808
1611 N → D: in FHA1; deficient cellular cholesterol efflux
1615 R → Q: in dbSNP:rs1251839800
1648 L → P: in dbSNP:rs1883024
1670 A → T: in dbSNP:rs1203589782
1680 R → Q: in dbSNP:rs150125857
1704 V → D: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane
1731 S → C: in dbSNP:rs760507032
1897 R → W: in FHA1; uncertain significance; dbSNP:rs760768125
1925 R → Q: in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906
1952 K→M: Inhibits ATPase activity; when associated with M-939. Decreases translocase activity; when associated with M-939. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-939.
2054 modified: Phosphoserine; by PKA
2081 R → W: in TGD; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane; dbSNP:rs137854501
2109 A → T: in a colorectal cancer sample; somatic mutation
2150 P → L: in FHA1; moderately decreased protein abundance; does not affect ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs369098049
2163 natural variant: F -> S
2168 L → P: in dbSNP:rs2853577
2243 D → E: in dbSNP:rs34879708
2244 V → I: in dbSNP:rs144588452

P41233 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; EC 7.6.2.1 from Mus musculus (Mouse) (see paper)
36% identity, 70% coverage: 13:236/319 of query aligns to 898:1122/2261 of P41233

query
sites
P41233

A

G

L

V

S

S

I

I

R

Q

D

N

L

L

R

V

K

K

T

V

Y

Y

A

R

G

D

G

G

V

M

E

K

-

V

A

A

L

V

R

D

G

G

V

L

S

A

L

L

D

N

V

F

A

Y

P

E

G

G

D

Q

F

I

Y

T

A

S

L

F

L

L

G

G

P

H

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

I

M

G

S

I

I

V

L

S

T

S

G

L

L

V

F

N

P

A

P

T

T

S

S

G

G

T

T

V

A

E

Y

V

I

F

L

G

G

V

K

D

D

I

I

A

R

R

S

R

E

R

M

G

S

E

S

A

I

M

R

R

Q

L

N

I

L

G

G

L

V

V

C

P

P

Q

Q

E

H

I

-

N

-

F

-

N

N

L

V

F

L

E

-

Q

-

P

-

F

F

D

D

I

M

L

L

V

T

-

V

-

E

N

E

Y

H

A

I

G

W

F

F

Y

Y

G

A

V

R

P

L

R

K

A

G

E

L

A

S

A

E

E

K

R

H

A

V

E

K

A

A

E

E

L

M

R

E

A

Q

A

M

H

A

L

L

-

D

-

V

-

G

-

L

-

P

W

P

G

S

K

K

A

L

R

K

T

S

M

K

S

T

R

S

T

Q

L

L

S

S

G

G

M

M

K

Q

R

R

R

K

L

L

M

S

I

V

A

A

R

L

A

A

M

F

M

V

T

G

R

G

P

S

R

K

L

V

I

I

L

L

D

D

E

E

P

P

T

T

A

A

G

G

V

V

D

D

I

P

E

Y

I

S

R

R

G

G

M

I

W

W

Q

E

A

L

L

L

Q

L

E

K

I

Y

N

R

A

-

A

Q

G

G

T

R

T

T

I

I

L

L

T

S

T

T

H

H

Y

H

L

M

E

D

E

E

A

A

E

D

A

I

L

L

C

G

R

D

N

R

L

I

A

A

I

I

D

S

H

H

G

G

R

K

I

L

V

C

E

C

Q

V

G

G

S

S

M

S

R

L

A

F

L

L

L

K

S

N

K

Q

L

L

Sites not aligning to the query:

489 modified: carbohydrate, N-linked (GlcNAc...) asparagine

8eopA Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state (see paper)
38% identity, 68% coverage: 12:228/319 of query aligns to 648:864/1687 of 8eopA

query
sites
8eopA

P

P

A

G

L

V

S

S

I

V

R

R

D

S

L

L

R

E

K

K

T

R

Y
x
F

A

P

G

G

G
x
S

V

P

E

Q

-

P

A
|
A

L

L

R

R

G

G

V

L

S

S

L

L

D

D

V

F

A

Y

P

Q

G

G

D

H

F

I

Y

T

A

A

L

F

L

L

G

G

P

H

N
|
N

G
|
G

A

A

G
|
G

K
|
K

S
x
T

T
|
T

L

T

I

L

G

S

I

I

V

L

S

S

S

G

L

L

V

F

N

P

A

P

T

S

S

G

G

G

T

S

V

A

E

F

V

I

F

L

G

G

V

H

D

D

I

V

A

R

R

S

R

M

G

A

E

A

A

I

M

R

R

P

L

H

I

L

G

G

L

V

V

C

P

P

Q

Q

E

-

I

-

N

-

F

Y

N

N

L

V

F

L

E

-

Q

-

P

-

F

F

D

D

I

M

L

L

V

T

-

V

-

D

N

E

Y

H

A

V

G

W

F

F

Y

Y

G

G

V

R

P

L

R

K

A

G

E

L

A

S

A

A

E

A

R

V

A

V

E

G

A

P

E

E

-

Q

-

D

-

R

-

L

L

L

R

Q

A

D

A

V

H

G

L

L

W

V

G

S

K

K

A

Q

R

S

T

V

M

Q

S

T

R

R

T
x
H

L

L

S
|
S

G

G

M

M

K

Q

R

R

R

K

L

L

M

S

I

V

A

A

R

I

A

A

M

F

M

V

T

G

R

G

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S

R

Q

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V

I

I

L

L

D

D

E

Q

P

P

T

T

A

A

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D

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P

E

A

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R

R

G

G

M

I

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W

Q

E

A

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Q

L

E

K

I

Y

N

R

A

-

A

E

G

G

T

R

T

T

I

L

I

I

L

L

T

S

T

T

H

H

Y

H

L

L

E

D

E

E

A

A

E

E

A

L

L

L

C

G

R

D

N

R

L

V

A

A

I

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D

A

H

G

G

G

R

R

I

L

V

C

E

C

Q

C

G

G

S

S

binding adenosine-5'-triphosphate: F659 (≠ Y23), S662 (≠ G26), A666 (= A29), N686 (= N49), G687 (= G50), G689 (= G52), K690 (= K53), T691 (≠ S54), T692 (= T55), H782 (≠ T145), S784 (= S147)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1461, 1488, 1489, 1491, 1492, 1494, 1533, 1584, 1586
binding magnesium ion: 1493, 1533

7lkpA Structure of atp-free human abca4 (see paper)
30% identity, 94% coverage: 14:314/319 of query aligns to 1631:1940/1941 of 7lkpA

query
sites
7lkpA

L

L

S

R

I

L

R

H

D

E

L

L

R

T

K

K

T

I

Y

Y

A

P

G

G

-

T

G

S

V

S

E

P

A

A

L

V

R

D

G

R

V

L

S

C

L

V

D

G

V

V

A

R

P

P

G

G

D

E

F

C

Y

F

A

G

L

L

G

G

P

V

N

N

G

G

A

A

G

G

K

K

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T

T

T

L

T

I

F

G

K

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M

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G

L

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N

T

A

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T

T

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S

G

G

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A

E

T

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V

F

A

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I

I

A

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T

R

N

R

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E

A

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R

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L

N

I

M

G

G

L

Y

V

C

P

P

Q

Q

E

F

I

D

N

A

F

I

N

D

L

E

F

L

E

L

Q

T

P

G

F

R

D

E

I

H

L

L

V

Y

N

L

Y

Y

A

A

G

R

F

L

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R

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G

V

V

P

P

R

A

A

E

E

E

A

I

A

E

E

K

R

V

A

A

E

N

A

W

E

S

L

I

R

K

A

S

A

L

H

G

L

L

W

T

G

V

K

Y

A

A

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T

C

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A

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G

M

N

K

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R

R

R

K

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M

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T

A

A

R

I

A

A

M

L

M

I

T

G

R

C

P

P

R

P

L

L

L

V

I

L

L

L

D

D

E

E

P

P

T

T

A

T

G

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M

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D

I

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E

Q

I

A

R

R

G

M

M

L

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W

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N

A

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Q

V

E

S

I

I

N

I

A

R

A

E

G

G

T

R

T

A

I

V

L

L

T

T

T

S

H

H

Y

S

L

M

E

E

A

C

E

E

A

A

L

L

C

C

R

T

N

R

L

L

A

A

I

I

I

M

D

V

H

K

G

G

R

A

I

F

V

R

E

C

Q

M

G

G

S

T

M

I

R

Q

A

H

L

L

L

K

S

S

K

K

L

F

D

G

V

-

E

D

A

G

F

Y

V

I

L

V

D

T

I

M

D

K

G

I

E

K

L

L

P

L

P

P

A

D

L

L

P

N

I

P

V

V

E

E

-

Q

-

F

-

Q

-

G

-

N

-

F

-

P

G

G

V

S

R

V

L

Q

H

R

A

E

R

R

D

H

G

Y

H

N

T

M

L

L

D

Q

L

F

E

Q

M

V

P

S

R

S

S

S

M

-

D

S

L

L

N

A

R

R

V

I

F

F

A

Q

A

L

L

L

-

L

-

S

D

H

A

K

A

D

A

S

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L

R

L

V

I

R

E

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E

M

Y

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N

T

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T

L

L

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L

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F

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M

F

T

A

A

K

Q

Q

H

Q

Sites not aligning to the query:

binding Digitonin: 522, 526, 530, 533, 616, 819, 863
binding cholesterol: 9, 10, 13, 617, 1073, 1074, 1076, 1402, 1436, 1487, 1492, 1495, 1496, 1499, 1603

8f5bA Human abca4 structure in complex with amp-pnp (see paper)
30% identity, 94% coverage: 14:314/319 of query aligns to 1616:1923/1924 of 8f5bA

query
sites
8f5bA

L

L

S

R

I

L

R

H

D

E

L

L

R

T

K

K

T

I

Y

Y

A

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T

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A

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C

L

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D

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V

V

A

R

P

P

G

G

D

E

F

C

Y

F

A

G

L

L

G

G

P

V

N
|
N

G
|
G

A
|
A

G
|
G

K
|
K

S
x
T

T

T

L

T

I

F

G

K

I

M

V

L

S

T

S

G

L

D

V

T

N

T

A

V

T

T

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S

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G

T

D

V

A

E

T

V

V

F

A

G

G

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I

A

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N

R

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G

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E

E

A

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M

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N

I

M

G

G

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Y

V

C

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P

Q
|
Q

E

F

I

D

N

A

F

I

N

D

L

E

F

L

E

L

Q

T

P

G

F

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E

I

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V

Y

N

L

Y

Y

A

A

G

R

F

L

Y

R

G

G

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V

P

P

R

A

A

E

E

E

A

I

A

E

E

K

R

V

A

A

E

N

A

W

E

S

L

I

R

K

A

S

A

L

H

G

L

L

W

T

G

V

K

Y

A

A

R

D

T

C

M

L

S

A

R

G

T
|
T

L

Y

S
|
S

G

G

M

N

K

K

R

R

R

K

L

L

M

S

I

T

A

A

R

I

A

A

M

L

M

I

T

G

R

C

P

P

R

P

L

L

L

V

I

L

L

L

D

D

E

E

P

P

T

T

A

T

G

G

V

M

D

D

I

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E

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I

A

R

R

G

M

M

L

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W

Q

N

A

V

L

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S

I

I

N

I

A

R

A

E

G

G

T

R

T

A

I

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L

L

T

T

T

S

H

H

Y

S

L

M

E

E

A

C

E

E

A

A

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L

C

C

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T

N

R

L

L

A

A

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S

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K

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-

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A

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V

T

L

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I

I

D

K

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D

L

L

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N

P

P

A

V

L

E

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I

F

V

F

E

Q

-

G

-

N

-

F

-

P

G

G

V

S

R

V

L

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H

R

A

E

R

R

D

H

G

Y

H

N

T

M

L

L

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Q

L

F

E

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S

S

M

-

D

S

L

L

N

A

R

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F

F

A

Q

A

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L

L

-

L

-

S

D

H

A

K

A

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A

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I

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E

M

Y

R

S

T

V

R

T

S

Q

N

T

R

T

L

L

E

D

E

Q

L

V

F

F

V

V

R

N

M

F

T

A

A

K

Q

Q

H

Q

binding phosphoaminophosphonic acid-adenylate ester: N1652 (= N49), G1653 (= G50), A1654 (= A51), G1655 (= G52), K1656 (= K53), T1657 (≠ S54), Q1697 (= Q94), T1748 (= T145), S1750 (= S147)
binding magnesium ion: T1657 (≠ S54), Q1697 (= Q94)

Sites not aligning to the query:

binding phosphoaminophosphonic acid-adenylate ester: 757, 758, 760, 761, 762, 763, 802, 853
binding magnesium ion: 762, 802

7tbyA The structure of human abca1 in nanodisc (see paper)
30% identity, 93% coverage: 13:310/319 of query aligns to 690:982/1788 of 7tbyA

query
sites
7tbyA

A

G

L

V

S

S

I

I

R

Q

D

N

L

L

R

V

K

K

T

V

Y

Y

A

-

G

-

V

-

E

-

A

-

L

-

R

-

G

-

V

L

S

A

L

L

D

N

V

F

A

Y

P

E

G

G

D

Q

F

I

Y

T

A

S

L

F

L

L

G

G

P

H

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

I

M

G

S

I

I

V

L

S

T

S

G

L

L

V

F

N

P

A

P

T

T

S

S

G

G

T

T

V

A

E

Y

V

I

F

L

G

G

V

K

D

D

I

I

A

R

R

S

R

E

R

M

G

S

E

T

A

I

M

R

R

Q

L

N

I

L

G

G

L

V

V

C

P

P

Q

Q

E

H

I

-

N

-

F

-

N

N

L

V

F

L

E

-

Q

-

P

-

F

F

D

D

I

M

L

L

V

T

-

V

-

E

N

E

Y

H

A

I

G

W

F

F

Y

Y

G

A

V

R

P

L

R

K

A

G

E

L

A

S

A

E

E

K

R

H

A

V

E

K

A

A

E

E

L

M

R

E

A

Q

A

M

H

A

L

L

-

D

-

V

-

G

-

L

-

P

W

S

G

S

K

K

A

L

R

K

T

S

M

K

S

T

R

S

T

Q

L

L

S

S

G

G

M

M

K

Q

R

R

R

K

L

L

M

S

I

V

A

A

R

L

A

A

M

F

M

V

T

G

R

G

P

S

R

K

L

V

I

I

L

L

D

D

E

E

P

P

T

T

A

A

G

G

V

V

D

D

I

P

E

Y

I

S

R

R

G

G

M

I

W

W

Q

E

A

L

L

L

Q

L

E

K

I

Y

N

R

A

-

A

Q

G

G

T

R

T

T

I

I

L

L

T

S

T

T

H

H

Y

H

L

M

E

D

E

E

A

A

E

D

A

V

L

L

C

G

R

D

N

R

L

I

A

A

I

I

D

S

H

H

G

G

R

K

I

L

V

C

E

C

Q

V

G

G

S

S

M

S

R

L

A

F

L

L

L

K

S

N

K

Q

L

L

D

G

V

T

E

G

A

Y

F

Y

V

L

L

-

D

-

I

-

D

-

G

-

E

T

L

L

P

V

P

K

A

V

L

S

P

A

I

I

V

S

E

N

G

L

V

I

R

R

L

K

H

H

A

V

R

S

D

E

-

A

-

R

-

L

-

V

-

E

-

D

-

I

G

G

H

H

T

E

L

L

D

T

L

Y

E

V

M

L

P

P

R

Y

S

E

M

G

D

A

L

F

N

V

R

E

V

L

F

F

A

H

A

E

L

I

D

D

-

D

-

R

A

L

A

S

A

D

I

L

R

G

V

I

R

S

S

S

M

Y

R

G

T

I

R

S

S

E

N

T

R

T

L

L

E

E

L

I

F

F

V

L

R

K

M

V

Sites not aligning to the query:

binding cholesterol: 161, 162

7lkzA Structure of atp-bound human abca4 (see paper)
30% identity, 94% coverage: 14:314/319 of query aligns to 1610:1920/1920 of 7lkzA

query
sites
7lkzA

L

L

S

R

I

L

R

H

D

E

L

L

R

T

K

K

T

I

Y
|
Y

A

P

G

G

-

T

G

S

V

S

E

P

A

A

L

V

R

D

G

R

V

L

S

C

L

V

D

G

V

V

A

R

P

P

G

G

D

E

F

C

Y

F

A

G

L

L

G

G

P

V

N
|
N

G
|
G

A

A

G
|
G

K
|
K

S
x
T

T
|
T

L

T

I

F

G

K

I

M

V

L

S

T

S

G

L

D

V

T

N

T

A

V

T

T

S

S

G

G

T

D

V

A

E

T

V

V

F

A

G

G

V

K

D

S

I

I

A

L

R

T

R

N

R

I

G

S

E

E

A

V

M

H

R

Q

L

N

I

M

G

G

L

Y

V

C

P

P

Q

Q

E

F

I

D

N

A

F

I

N

D

L

E

F

L

E

L

Q

T

P

G

F

R

D

E

I

H

L

L

V

Y

N

L

Y

Y

A

A

G

R

F

L

Y

R

G

G

V

V

P

P

R

A

A

E

E

E

A

I

A

E

E

K

R

V

A

A

E

N

A

W

E

S

L

I

R

K

A

S

A

L

H

G

L

L

W

T

G

V

K

Y

A

A

R

D

T

C

M

L

S

A

R

G

T
|
T

L

Y

S
|
S

G
|
G

G

G

M

N

K

K

R

R

R

K

L

L

M

S

I

T

A

A

R

I

A

A

M

L

M

I

T

G

R

C

P

P

R

P

L

L

L

V

I

L

L

L

D

D

E

Q

P

P

T

T

A

T

G

G

V

M

D

D

I

P

E

Q

I

A

R

R

G

M

M

L

W

W

Q

N

A

V

L

I

Q

V

E

S

I

I

N

I

A

R

A

E

G

G

T

R

T

A

I

V

L

L

T

T

T

S

H

H

Y

S

L

M

E

E

A

C

E

E

A

A

L

L

C

C

R

T

N

R

L

L

A

A

I

I

I

M

D

V

H

K

G

G

R

A

I

F

V

R

E

C

Q

M

G

G

S

T

M

I

R

Q

A

H

L

L

L

K

S

S

K

K

L

F

-

G

D

D

V

G

E

Y

A

I

F

V

V

T

L

M

D

K

I

I

D

K

G

S

E

L

L

L

P

P

P

D

A

L

L

N

P

P

I

V

V

E

E

Q

-

F

-

Q

-

G

-

N

-

F

-

P

G

G

V

S

R

V

L

Q

H

R

A

E

R

R

D

H

G

Y

H

N

T

M

L

L

D

Q

L

F

E

Q

M

V

P

S

R

S

S

S

M

-

D

S

L

L

N

A

R

R

V

I

F

F

A

Q

A

L

L

L

-

L

-

S

D

H

A

K

A

D

A

S

I

L

R

L

V

I

R

E

S

E

M

Y

R

S

T

V

R

T

S

Q

N

T

R

T

L

L

E

D

E

Q

L

V

F

F

V

V

R

N

M

F

T

A

A

K

Q

Q

H

Q

binding adenosine-5'-triphosphate: Y1619 (= Y23), N1646 (= N49), G1647 (= G50), G1649 (= G52), K1650 (= K53), T1651 (≠ S54), T1652 (= T55), T1742 (= T145), S1744 (= S147), G1745 (= G148)

Sites not aligning to the query:

binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate: 22, 465, 566, 567, 568, 572, 592, 593, 595, 1076, 1355, 1362, 1470, 1471
binding adenosine-5'-triphosphate: 718, 725, 745, 746, 748, 749, 750, 834, 841, 843
binding magnesium ion: 750, 790

P78363 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) (see 43 papers)
30% identity, 95% coverage: 14:316/319 of query aligns to 1938:2254/2273 of P78363

query
sites
P78363

L
|
L

S
x
R

I
x
L

R
x
H

D
x
E

L
|
L

R
x
T

K
|
K

T
x
I

Y
|
Y

A
x
P

G
|
G

-
x
T

G
x
S

V
x
S

E
x
P

A
|
A

L
x
V

R
x
D

G
x
R

V
x
L

S
x
C

L
x
V

D
x
G

V
|
V

A
x
R

P
|
P

G
|
G

D
x
E

F
x
C

Y
x
F

A
x
G

L
|
L

G
|
G

P
x
V

N
|
N

G
|
G

A
|
A

G
|
G

K
|
K

S
x
T

T
|
T

L
x
T

I
x
F

G
x
K

I
x
M

V
x
L

S
x
T

S
x
G

L
x
D

V
x
T

N
x
T

A
x
V

T
|
T

S
|
S

G
|
G

T
x
D

V
x
A

E
x
T

V
|
V

F
x
A

G
|
G

V
x
K

D
x
S

I
|
I

A
x
L

R
x
T

R
x
N

R
x
I

G
x
S

E
|
E

A
x
V

M
x
H

R
x
Q

L
x
N

I
x
M

G
|
G

L
x
Y

V
x
C

P
|
P

Q
|
Q

E
x
F

I
x
D

N
x
A

F
x
I

N
x
D

L
x
E

F
x
L

E
x
L

Q
x
T

P
x
G

F
x
R

D
x
E

I
x
H

L
|
L

V
x
Y

N
x
L

Y
|
Y

A
|
A

G
x
R

F
x
L

Y
x
R

G
|
G

V
|
V

P
|
P

R
x
A

A
x
E

E
|
E

A
x
I

A
x
E

E
x
K

R
x
V

A
|
A

E
x
N

A
x
W

E
x
S

L
x
I

R
x
K

A
x
S

A
x
L

H
x
G

L
|
L

W
x
T

G
x
V

K
x
Y

A
|
A

R
x
D

T
x
C

M
x
L

S
x
A

R
x
G

T
|
T

L
x
Y

S
|
S

G
|
G

M
x
N

K
|
K

R
|
R

R
x
K

L
|
L

M
x
S

I
x
T

A
|
A

R
x
I

A
|
A

M
x
L

M
x
I

T
x
G

R
x
C

P
|
P

R
x
P

L
|
L

L
x
V

I
x
L

L
|
L

D
|
D

E
|
E

P
|
P

T
|
T

A
x
T

G
|
G

V
x
M

D
|
D

I
x
P

E
x
Q

I
x
A

R
|
R

G
x
M

M
x
L

W
|
W

Q
x
N

A
x
V

L
x
I

Q
x
V

E
x
S

I
|
I

N
x
I

A
x
R

A
x
E

G
|
G

T
x
R

T
x
A

I
x
V

L
|
L

T
|
T

T
x
S

H
|
H

Y
x
S

L
x
M

E
|
E

A
x
C

E
|
E

A
|
A

L
|
L

C
|
C

R
x
T

N
x
R

L
|
L

A
|
A

I
|
I

I
x
M

D
x
V

H
x
K

G
|
G

R
x
A

I
x
F

V
x
R

E
x
C

Q
x
M

G
|
G

S
x
T

M
x
I

R
x
Q

A
x
H

L
|
L

L
x
K

S
|
S

K
|
K

L
x
F

D
x
G

V

-

E
x
D

A
x
G

F
x
Y

V
x
I

L
x
V

D
x
T

I
x
M

-
x
K

-
x
I

-
x
K

-
x
S

-
x
P

-
x
K

D
|
D

G
x
D

E
x
L

L
|
L

P
|
P

P
x
D

A
x
L

L
x
N

P
|
P

I
x
V

V
x
E

E
x
Q

-
x
F

-
x
Q

-
x
G

-
x
N

-
x
F

-
x
P

G
|
G

V
x
S

R
x
V

L
x
Q

H
x
R

A
x
E

R
|
R

D
x
H

G
x
Y

H
x
N

T
x
M

L
|
L

D
x
Q

L
x
F

E
x
Q

M
x
V

P
x
S

R
x
S

S
|
S

M

-

D
x
S

L
|
L

N
x
A

R
|
R

V
x
I

F
|
F

A
x
Q

A
x
L

L
|
L

-
x
L

-
x
S

D
x
H

A
x
K

A
x
D

A
x
S

I
x
L

R
x
L

V
x
I

R
x
E

S
x
E

M
x
Y

R
x
S

T
x
V

R
x
T

S
x
Q

N
x
T

R
x
T

L
|
L

E
x
D

E
x
Q

L
x
V

F
|
F

V
|
V

R
x
N

M
x
F

T
x
A

A
x
K

Q
|
Q

H
x
Q

A
x
T

E
|
E

L1940 (≠ I16) to P: in STGD1 and FFM; dbSNP:rs61753033
E1942 (≠ D18) to Q: in STGD1; uncertain significance; dbSNP:rs760353830
P1948 (≠ A24) to L: in dbSNP:rs56142141; natural variant: P -> S
G1961 (≠ D36) to E: in STGD1, FFM and CORD3; risk factor for ARMD2; also found in patients with cone dystrophy and with macular dystrophy; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553; to R: in STGD1; uncertain significance; dbSNP:rs142253670
L1970 (= L45) to F: in ARMD2, FFM and STGD1; also found in a patient with cone dystrophy; dbSNP:rs28938473
L1971 (= L46) to R: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis; dbSNP:rs61753034
1972:1980 (vs. 47:55, 78% identical) binding ATP
G1975 (= G50) mutation to D: Inhibition of retinal-stimulated ATP hydrolysis.
G1977 (= G52) to S: in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750639
K1978 (= K53) mutation to M: Inhibits ATPase activity; when associated with M-969. Decreases translocase activity; when associated with M-969. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-969. Loss of ATP-dependent all-trans-retinal transport; when associated with M-1978. Loss in N-retinylidene-PE transfer activity. Inhibits ATPase activity with increasing retinal concentration. Does not affect ATP-independent N-retinylidene-PE binding. Does not affect ATP-dependent of N-retinylidene-PE release. Significantly reduces PE flippase activity. Inhibition of retinal-stimulated ATP hydrolysis.
C2017 (≠ V92) to Y: in STGD1; uncertain significance
I2023 (≠ F98) to T: in STGD1; uncertain significance; dbSNP:rs150633517
L2027 (≠ E102) to F: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; highly reduced ATP-binding capacity; dbSNP:rs61751408
R2030 (≠ F105) to Q: in STGD1 and FFM; dbSNP:rs61750641
H2032 (≠ I107) to R: in STGD1; uncertain significance; dbSNP:rs1242866408
L2033 (= L108) to R: in STGD1; uncertain significance; dbSNP:rs1553186896
R2038 (≠ G113) to W: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs61750643
R2040 (≠ Y115) to Q: in STGD1; uncertain significance; dbSNP:rs148460146
V2042 (= V117) to G: in STGD1; uncertain significance
P2043 (= P118) to S: in CORD3; uncertain significance; dbSNP:rs763230559
V2050 (≠ R125) to L: in STGD1 and CORD3; may act as a modifier of macular dystrophy in patients who also have a Trp-172 mutation in PRPH2; dbSNP:rs41292677
G2059 (≠ H134) natural variant: G -> A
A2064 (= A139) to T: in STGD1; uncertain significance; dbSNP:rs61753040
GG 2073:2074 (= GG 148:149) binding ATP
G2074 (= G149) to V: in STGD1; uncertain significance; dbSNP:rs367839100
R2077 (= R152) to W: in STGD1; highly reduced ATP-binding capacity; decreases solubility at 50 %; loss of intracellular vesicle localization; drastically reduced basal activity with little or no substrate stimulation; dbSNP:rs61750645
K2078 (≠ R153) to E: in STGD1; uncertain significance
E2096 (= E171) to K: in STGD1; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750646; mutation to Q: Does not affect protein folding; when associated with Q-1087. Loss of ATPase activity; when associated with Q-1087.
P2097 (= P172) to S: in STGD1; uncertain significance; dbSNP:rs1166357291
R2106 (= R181) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750648
R2107 (= R182) to C: in STGD1; uncertain significance; dbSNP:rs2297669; to H: in STGD1 and CORD3; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs62642564; mutation to P: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
E2131 (= E206) to K: in STGD1; uncertain significance; dbSNP:rs61750652
L2140 (= L215) to Q: in STGD1; uncertain significance; dbSNP:rs774475956
C2150 (≠ E225) to Y: in STGD1 and CORD3; dbSNP:rs61751384
D2177 (≠ G247) to N: in CORD3, ARMD2 and STGD1; uncertain significance; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555
P2180 (= P250) mutation to L: Does not affect protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
F2188 (vs. gap) to S: in STGD1; uncertain significance; dbSNP:rs61750658
A2216 (≠ N280) to V: in dbSNP:rs886044763
L2221 (≠ A285) to P: in STGD1; uncertain significance; dbSNP:rs1367504380
T2237 (≠ R299) to P: in STGD1; uncertain significance; dbSNP:rs1659051890
VFVNFA 2244:2249 (≠ LFVRMT 306:311) Essential for ATP binding and ATPase activity

Sites not aligning to the query:

14 N → K: in STGD1; uncertain significance
18 R → P: in STGD1; uncertain significance; dbSNP:rs868543294
21:2273 natural variant: Missing (in STGD1; uncertain significance)
24 R → H: in STGD1; uncertain significance; dbSNP:rs62645958
53:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs764744217)
54 modified: Disulfide link with 81
55 H → R: in CORD3; uncertain significance
63 S → P: in CORD3; uncertain significance
65 G → E: in STGD1 and CORD3; dbSNP:rs62654395
72 G → R: in STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation; dbSNP:rs61751412; G → V: in STGD1; uncertain significance; dbSNP:rs2101162548
75 modified: Disulfide link with 324
81 modified: Disulfide link with 54
89:2273 natural variant: Missing (in STGD1; uncertain significance)
96 N → H: in STGD1; uncertain significance; dbSNP:rs61748529; N → K: in STGD1; uncertain significance; dbSNP:rs886039297
97 Y → C: in STGD1; uncertain significance; dbSNP:rs755691060
98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
100 S → P: in STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61748530
107:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs765429911)
108 D → V: in STGD1; uncertain significance; dbSNP:rs1662508600
143 P → L: in STGD1; uncertain significance; dbSNP:rs62646860
172 G → S: in STGD1; uncertain significance; dbSNP:rs61748532
184 S → F: in STGD1; uncertain significance; S → R: in STGD1; uncertain significance
185:2273 natural variant: Missing (in STGD1; uncertain significance)
206 S → R: in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis; dbSNP:rs61748536
212 R → C: in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity; dbSNP:rs61750200; R → H: in dbSNP:rs6657239
218:2273 natural variant: Missing (in CORD3; uncertain significance)
219:2273 natural variant: Missing (found in a patient with chorioretinal atrophy; uncertain significance)
223 K → Q: in STGD1; uncertain significance; dbSNP:rs147619585
224 T → M: in a breast cancer sample; somatic mutation; dbSNP:rs373540612
240 I → R: in STGD1; uncertain significance; dbSNP:rs1553195472
241 E → D: in STGD1; uncertain significance
245:2273 natural variant: Missing (in STGD1; uncertain significance)
246 A → T: in STGD1; uncertain significance; dbSNP:rs1662207986
290 R → W: in STGD1; uncertain significance; dbSNP:rs781716640
291 P → L: in STGD1; uncertain significance; dbSNP:rs190540405
320 S → C: in CORD3; uncertain significance
324 modified: Disulfide link with 75
326:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs747540967)
339:2273 natural variant: Missing (in CORD3; uncertain significance)
345 Y → S: in STGD1; uncertain significance; dbSNP:rs1417184535
370 modified: Disulfide link with 519
407 A → V: in STGD1 and CORD3; dbSNP:rs61751264
410 I → T: in STGD1; uncertain significance
415 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → K: in STGD1; uncertain significance; dbSNP:rs1661605073
418 F → S: in STGD1; uncertain significance; dbSNP:rs794726979
423 H → R: in dbSNP:rs3112831
424 V → A: in STGD1 and RP19; uncertain significance; dbSNP:rs1661603358
431:2273 natural variant: Missing (in STGD1; uncertain significance)
440 Y → C: in CORD3; uncertain significance; dbSNP:rs770439859
444 modified: carbohydrate, N-linked (GlcNAc...) asparagine
455 L → M: in RP19; uncertain significance; dbSNP:rs764170051
471 E → K: in ARMD2 and STGD1; uncertain significance; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548
498 D → E: in STGD1; uncertain significance; dbSNP:rs1661575300
504 modified: carbohydrate, N-linked (GlcNAc...) asparagine
508 R → C: in STGD1; uncertain significance; dbSNP:rs138157885
511 R → C: in STGD1; uncertain significance; dbSNP:rs752786160
519 modified: Disulfide link with 370; C → R: in STGD1; uncertain significance; dbSNP:rs1224959251
533:2273 natural variant: Missing (in STGD1; uncertain significance)
541 L → P: in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect intracellular vesicle localization; significantly reduces substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation; dbSNP:rs61751392
548 W → R: in STGD1; uncertain significance
552 V → I: in RP19; uncertain significance; dbSNP:rs145525174
572:2273 natural variant: Missing (in STGD1; uncertain significance)
576 D → H: found in a patient with pattern dystrophy; uncertain significance; dbSNP:rs374224955
593 P → L: in STGD1; uncertain significance
603 Y → C: in STGD1; uncertain significance
605:2273 natural variant: Missing (in CORD3; uncertain significance)
608 F → I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752398
616 E → K: in STGD1; uncertain significance; dbSNP:rs1557787473
636 Q → K: in CORD3; uncertain significance
639:2273 natural variant: Missing (in STGD1; uncertain significance)
640 P → L: in STGD1; uncertain significance; dbSNP:rs760790294
641 modified: Disulfide link with 1490, Interchain; C → S: in STGD1; uncertain significance; dbSNP:rs61749416
643 V → G: in CORD3; uncertain significance; dbSNP:rs61754024
653 R → C: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61749420; R → H: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs141823837
661 L → R: in CORD3; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
681:2273 natural variant: Missing (found in a patient with macular dystrophy; uncertain significance)
686 L → S: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752402
690 G → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; very low substrate binding; dbSNP:rs942734318
700:2273 natural variant: Missing (in STGD1; uncertain significance)
716 T → M: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749426
754 F → S: in STGD1; uncertain significance
764 C → Y: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749428
765 S → N: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749429; S → R: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752404
767 V → D: in STGD1; also found in a patient with macular dystrophy; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61751395
779:2273 natural variant: Missing (in STGD1; uncertain significance)
782:2273 natural variant: Missing (in STGD1; uncertain significance)
797 L → P: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749432
808:2273 natural variant: Missing (in STGD1; uncertain significance)
816 G → V: in STGD1; uncertain significance
818 G → E: in STGD1; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61750202
821 W → R: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61749433
824 I → T: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs1660942697
840 M → R: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
846 D → H: severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61754027
849 V → A: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749435
851 G → D: in STGD1; highly reduced ATP-binding capacity; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749436
854 A → T: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749437
863 G → A: in STGD1, FFM and CORD3; also found in a patient with bull's eye maculopathy; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis; significantly attenuates 11-cis-retinal binding; decreases about 80% the N-retinylidene-phosphatidylethanolamine transport activity; stimulates modestely the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding. Does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity; dbSNP:rs76157638; natural variant: Missing (in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis)
876:2273 natural variant: Missing (in STGD1; uncertain significance)
901 T → A: in dbSNP:rs61754030
914 natural variant: H -> R
940 P→R: Decreases 11-cis-Retinal binding affinity by 50%.
943 R → Q: risk factor for STGD1; risk factor for ARMD2; decreases 11-cis-Retinal binding affinity by 100-fold; dbSNP:rs1801581; R → W: in STGD1 and FFM; dbSNP:rs61749446
954 Y → D: in STGD1; uncertain significance; dbSNP:rs61749447
959 T → I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
963:970 binding ATP
965 N → S: in STGD1; reduced retinal-stimulated ATP hydrolysis; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; decreases about 60% the N-retinylidene-phosphatidylethanolamine transfer activity; stimulates modestly the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding; does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity; dbSNP:rs201471607; N → Y: in STGD1; uncertain significance; dbSNP:rs61749449
966 G→D: Abolishes basal and retinal-stimulated ATP hydrolysis.
969 K→M: Abolishes basal and retinal-stimulated ATP hydrolysis.; K→M: Inhibits ATPase activity; when associated with M-1978. Decreases translocase activity; when associated with M-1978. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-1978. Loss of ATP-dependent all-trans-retinal transport; when associated with M-1978. Loss in N-retinylidene-PE transfer activity. Inhibits ATPase activity with increasing retinal concentration. Does not affect N-retinylidene-PE binding. Impairs ATP-dependent release of N-retinylidene-PE. Significantly reduces PE flippase activity.
970 T → P: in STGD1; uncertain significance; dbSNP:rs1570377849
971 T → N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
972 T → N: in STGD1; uncertain significance; dbSNP:rs61749451
973 L → S: in STGD1; uncertain significance
977 T → P: in STGD1; uncertain significance; dbSNP:rs1660625648
978 G → D: in STGD1; uncertain significance; dbSNP:rs61749453
991 G → R: in FFM and STGD1; dbSNP:rs61749455
1022 E → G: in STGD1; uncertain significance; E → K: in STGD1; uncertain significance; dbSNP:rs61749459
1029:2273 natural variant: Missing (in STGD1; uncertain significance)
1038 A → V: in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis; decreases solubility at 70%; does not affect intracellular vesicle localization; significantly reduces substrate binding in the absence of ATP; reduces basal ATPase activity; dbSNP:rs61751374
1050 G → D: in STGD1; uncertain significance; dbSNP:rs61750062
1054 binding ATP
1071 S → L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
1074 I → L: in STGD1; uncertain significance
1078 G → E: in STGD1; uncertain significance; dbSNP:rs1660532440
1087 E→Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
1091 G → E: in FFM and STGD1; decreases solubilized at 70%; does not affect intracellular vesicle localization; does not affect substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation; dbSNP:rs61752417
1094 P → T: in STGD1; uncertain significance
1097 R → S: in STGD1; uncertain significance; dbSNP:rs61750118
1098 R → C: in STGD1; uncertain significance; dbSNP:rs756840095
1099 S → P: in STGD1; uncertain significance; dbSNP:rs61750119
1099:2273 natural variant: Missing (in STGD1; uncertain significance)
1102 D → Y: in dbSNP:rs138641544
1108 R → C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
1122 E → K: in STGD1 and CORD3; dbSNP:rs61751399
1129 R → C: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs779426136; R → L: in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity; dbSNP:rs1801269
1130 I → T: in STGD1; uncertain significance; dbSNP:rs1064793010
1140 C → W: in STGD1; uncertain significance; dbSNP:rs2101048569
1145 L → H: in CORD3; uncertain significance
1148 natural variant: K -> T
1159 L → S: in STGD1; uncertain significance; dbSNP:rs1340749727
1161 R → H: in STGD1; uncertain significance; dbSNP:rs768278935
1177:2273 natural variant: Missing (in STGD1; uncertain significance)
1183 G → C: in CORD3; uncertain significance; dbSNP:rs75267647
1201 L → R: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs61750126
1203 G → E: in CORD3; uncertain significance; dbSNP:rs146786552; G → R: in STGD1; uncertain significance
1204 D → N: in STGD1; uncertain significance; dbSNP:rs61750127
1209 M → T: in dbSNP:rs76258939
1253 T → M: in FFM; uncertain significance; dbSNP:rs61752424
1300 R → Q: in STGD1; uncertain significance; dbSNP:rs61750129
1300:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs61752427)
1314 P → T: in dbSNP:rs61754041
1332:2273 natural variant: Missing (in STGD1; uncertain significance)
1357 A→T: Decreases solubility at 50%. Loss of intracellular vesicle localization. Does not affect substrate binding. Reduces basal ATPase activity.
1368 R → C: in CORD3; uncertain significance; dbSNP:rs1183074086
1371 K → N: in STGD1; uncertain significance
1380 P → L: in STGD1; also found in a patient with chorioretinal atrophy; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61750130
1399 E → K: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs62642573
1408 W → L: in STGD1; does not affect secondary structure; decreases structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750134; W → R: in STGD1; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750135
1408:2273 natural variant: Missing (in STGD1; uncertain significance)
1416 natural variant: Missing (in STGD1; uncertain significance)
1428 T → M: in dbSNP:rs1800549
1442 N → K: in STGD1; uncertain significance; dbSNP:rs762150575
1443 R → H: in STGD1; loss of the majority of alpha-helical secondary structure; does not bind all-trans-retinal; does not affect conformational change; dbSNP:rs61750142
1444 modified: Disulfide link with 1455
1453:2273 natural variant: Missing (in STGD1; uncertain significance)
1455 modified: Disulfide link with 1444
1461:2273 natural variant: Missing (in STGD1; uncertain significance)
1469 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1479:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61752434)
1484 P → S: in STGD1; uncertain significance; dbSNP:rs1660139125
1488 modified: Disulfide link with 1502; C → R: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; does not affect secondary structure; oss of structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750146
1490 modified: Disulfide link with 641, Interchain; C → Y: in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61751402
1502 modified: Disulfide link with 1488; C→R: Moderately decreased protein abundance. Moderately decreased ATPase activity. Moderately decreased phospholipid translocase activity.
1503 P → L: in STGD1; uncertain significance
1511 P → H: in STGD1; uncertain significance; dbSNP:rs886046564
1512 P → R: in STGD1; uncertain significance; dbSNP:rs61750150
1526 T → M: in STGD1; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750152
1529 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1537 T → M: in STGD1; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs62642575
1551 natural variant: Missing (in STGD1; uncertain significance)
1556 R → T: in STGD1; uncertain significance; dbSNP:rs1385119665
1557 Y → C: found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs1401716074
1562 I → T: in STGD1, FFM, ARMD2 and CORD3; uncertain significance; dbSNP:rs1762111
1572 T → M: in dbSNP:rs185093512
1588 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1591 G → R: in STGD1; uncertain significance; also found in a patient with macular dystrophy; uncertain significance; dbSNP:rs113106943
1598 A → D: in CORD3 and STGD1; uncertain significance; dbSNP:rs61750155
1618:2273 natural variant: Missing
1623 G → V: in dbSNP:rs1571257969
1637 A → T: in dbSNP:rs61754056
1640 R → Q: in STGD1, FFM and CORD3; dbSNP:rs61751403; R → W: in STGD1 and CORD3; dbSNP:rs61751404
1650:2273 natural variant: Missing (in CORD3; uncertain significance)
1652:2273 natural variant: Missing (in STGD1 and FFM; uncertain significance)
1662 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1681:1685 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
1696 S → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs61750564
1703 Q → E: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs61750565; Q → K: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity
1705 R → L: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753021; R → Q: in STGD1; uncertain significance; dbSNP:rs61753021
1724:2273 natural variant: Missing (in STGD1; uncertain significance)
1754 Y → D: in STGD1; uncertain significance
1761:1763 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
1762 A → D: in STGD1; uncertain significance; dbSNP:rs121909206
1773 A → E: found in a patient with chorioretinal atrophy; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs760549861; A → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs760549861
1775 I → N: in STGD1; uncertain significance; dbSNP:rs771742619
1779 Y → H: in STGD1; uncertain significance
1779:2273 natural variant: Missing (in STGD1; uncertain significance)
1794 A → D: in STGD1; also found in a patient with bull's eye maculopathy; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs61751406; A → P: in STGD1; uncertain significance; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases solubility below 50%; significantly reduces N-Ret-PE binding in the absence of ATP; dbSNP:rs1571252997
1805 N → D: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753029
1817 E → D: in dbSNP:rs1029950404
1838 H → D: in STGD1; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases basal ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → Y: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs62642562; H→R: Severely decreases solubility. Loss of cytoplasmic vesicle localization. Decreases basal ATPase activity below 50%. Loss of N-Ret-PE-induced stimulation in ATPase activity.
1843 R → W: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; does not affect N-Ret-PE binding; dbSNP:rs62642576
1868 N → I: risk factor for STGD1; slightly reduced retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; does not affect N-Ret-PE binding; dbSNP:rs1801466
1882 M → I: in CORD3; uncertain significance; dbSNP:rs752160946
1886 G → E: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs62642579
1898 R → C: does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; dbSNP:rs201357151; R → H: in STGD1 and ARMD2; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; Increases N-Ret-PE binding; dbSNP:rs1800552
1921 V → G: in STGD1; uncertain significance
2030:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61751383)
2040:2273 natural variant: Missing (in STGD1; uncertain significance; also found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs61753038)
2255 S → I: in dbSNP:rs6666652

8y1pA Cryo-em structure of human abca7 in dops-bound state
33% identity, 90% coverage: 30:315/319 of query aligns to 659:954/1800 of 8y1pA

query
sites
8y1pA

L

L

R

R

G

G

V

L

S

S

L

L

D

D

V

F

A

Y

P

Q

G

G

D

H

F

I

Y

T

A

A

L

F

L

L

G

G

P

H

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

I

L

G

S

I

I

V

L

S

S

S

G

L

L

V

F

N

P

A

P

T

S

S

G

G

G

T

S

V

A

E

F

V

I

F

L

G

G

V

H

D

D

I

V

A

R

R

S

R

M

G

A

E

A

A

I

M

R

R

P

L

H

I

L

G

G

L

V

V

C

P

P

Q

Q

E

-

I

-

N

-

F

Y

N

N

L

V

F

L

E

-

Q

-

P

-

F

F

D

D

I

M

L

L

V

T

-

V

-

D

N

E

Y

H

A

V

G

W

F

F

Y

Y

G

G

V

R

P

L

R

K

A

G

E

L

A

S

A

A

E

A

R

V

A

V

E

G

A

P

E

E

-

Q

-

D

-

R

-

L

L

L

R

Q

A

D

A

V

H

G

L

L

W

V

G

S

K

K

A

Q

R

S

T

V

M

Q

S

T

R

R

T

H

L

L

S

S

G

G

M

M

K

Q

R

R

R

K

L

L

M

S

I

V

A

A

R

I

A

A

M

F

M

V

T

G

R

G

P

S

R

Q

L

V

I

I

L

L

D

D

E

E

P

P

T

T

A

A

G

G

V

V

D

D

I

P

E

A

I

S

R

R

G

G

M

I

W

W

Q

E

A

L

L

L

Q

L

E

K

I

Y

N

R

A

-

A

E

G

G

T

R

T

T

I

L

I

I

L

L

T

S

T

T

H

H

Y

H

L

L

E

D

E

E

A

A

E

E

A

L

L

L

C

G

R

D

N

R

L

V

A

A

I

V

D

A

H

G

G

G

R

R

I

L

V

C

E

C

Q

C

G

G

S

S

M

P

R

L

A

F

L

L

L

R

S

R

K

H

L

L

D

G

V

S

E

G

A

Y

F

Y

V

L

L

T

D

L

I

V

D

K

G

R

E

V

L

G

P

T

P

P

A

Q

L

L

-

L

-

A

-

L

-

V

-

Q

P

H

I

W

V

V

E

P

G

G

V

A

R

R

L

L

H

V

A

E

R

E

D

L

G

P

H

H

T

E

L

L

D

V

L

L

E

V

M

L

P

P

R

Y

S

T

M

G

D

A

L

H

N

D

R

G

V

S

F

F

A

A

A

T

L

L

-

F

-

R

-

E

-

L

-

D

-

T

D

R

A

L

A

A

A

E

I

L

R

R

V

L

R

T

S

G

M

Y

R

G

T

I

R

S

S

D

N

T

R

S

L

L

E

E

L

I

F

F

V

L

R

K

M

V

T

V

A

E

Q

E

H

C

A

A

Sites not aligning to the query:

binding O-[(S)-({(2R)-2,3-bis[(9Z)-octadec-9-enoyloxy]propyl}oxy)(hydroxy)phosphoryl]-L-serine: 21, 24, 46, 371, 432, 440, 448, 452, 455, 1147

7roqA Alternative structure of human abca1
31% identity, 87% coverage: 32:310/319 of query aligns to 789:1079/1831 of 7roqA

query
sites
7roqA

G

G

V

L

S

A

L

L

D

N

V

F

A

Y

P

E

G

G

D

Q

F

I

Y

T

A

S

L

F

L

L

G

G

P

H

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

I

M

G

S

I

I

V

L

S

T

S

G

L

L

V

F

N

P

A

P

T

T

S

S

G

G

T

T

V

A

E

Y

V

I

F

L

G

G

V

K

D

D

I

I

A

R

R

S

R

E

R

M

G

S

E

T

A

I

M

R

R

Q

L

N

I

L

G

G

L

V

V

C

P

P

Q

Q

E

H

I

-

N

-

F

-

N

N

L

V

F

L

E

-

Q

-

P

-

F

F

D

D

I

M

L

L

V

T

-

V

-

E

N

E

Y

H

A

I

G

W

F

F

Y

Y

G

A

V

R

P

L

R

K

A

G

E

L

A

S

A

E

E

K

R

H

A

V

E

K

A

A

E

E

L

M

R

E

A

Q

-

M

-

A

-

L

-

D

A

V

H

G

L

L

W

S

G

S

K

K

A

L

R

K

T

S

M

K

S

T

R

S

T

Q

L

L

S

S

G

G

M

M

K

Q

R

R

R

K

L

L

M

S

I

V

A

A

R

L

A

A

M

F

M

V

T

G

R

G

P

S

R

K

L

V

I

I

L

L

D

D

E

E

P

P

T

T

A

A

G

G

V

V

D

D

I

P

E

Y

I

S

R

R

G

G

M

I

W

W

Q

E

A

L

L

L

Q

L

E

K

I

Y

N

R

A

-

A

Q

G

G

T

R

T

T

I

I

L

L

T

S

T

T

H

H

Y

H

L

M

E

D

E

E

A

A

E

D

A

V

L

L

C

G

R

D

N

R

L

I

A

A

I

I

D

S

H

H

G

G

R

K

I

L

V

C

E

C

Q

V

G

G

S

S

M

S

R

L

A

F

L

L

L

K

S

N

K

Q

L

L

D

G

-

T

-

G

-

Y

-

L

-

T

-

L

V

V

E

K

A

K

F

L

V

T

L

I

D

D

I

V

D

S

G

A

E

I

L

S

P

N

P

L

A

I

L

R

P

K

I

H

V

V

E

S

G

E

V

A

R

R

L

L

H

V

A

E

R

D

D

I

G

G

H

H

T

E

L

L

D

T

L

Y

E

V

M

L

P

P

R

Y

S

E

M

A

D

A

L

K

N

E

R

G

V

A

F

F

A

V

A

E

L

L

-

F

-

H

-

E

-

I

-

D

D

R

A

L

A

S

A

D

I

L

R

G

V

I

R

S

S

S

M

Y

R

G

T

I

R

S

S

E

N

T

R

T

L

L

E

E

L

I

F

F

V

L

R

K

M

V

Sites not aligning to the query:

binding cholesterol: 688, 1106, 1426, 1526, 1527

7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
35% identity, 70% coverage: 14:236/319 of query aligns to 1703:1926/2003 of 7e7oA

query
sites
7e7oA

L

L

S

R

I

L

R

H

D

E

L

L

R

T

K

K

T

I

Y

Y

A

P

G

G

-

T

G

S

V

S

E

P

A

A

L

V

R

D

G

R

V

L

S

C

L

V

D

G

V

V

A

R

P

P

G

G

D

E

F

C

Y

F

A

G

L

L

G

G

P

V

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

I

F

G

K

I

M

V

L

S

T

S

G

L

D

V

T

N

T

A

V

T

T

S

S

G

G

T

D

V

A

E

T

V

V

F

A

G

G

V

K

D

S

I

I

A

L

R

T

R

N

R

I

G

S

E

E

A

V

M

H

R

Q

L

N

I

M

G

G

L

Y

V

C

P

P

Q

Q

E

F

I

D

N

A

F

I

N

D

L

E

F

L

E

L

Q

T

P

G

F

R

D

E

I

H

L

L

V

Y

N

L

Y

Y

A

A

G

R

F

L

Y

R

G

G

V

V

P

P

R

A

A

E

E

E

A

I

A

E

E

K

R

V

A

A

E

N

A

W

E

S

L

I

R

K

A

S

A

L

H

G

L

L

W

T

G

V

K

Y

A

A

R

D

T

C

M

L

S

A

R

G

T

T

L

Y

S

S

G

G

M

N

K

K

R

R

R

K

L

L

M

S

I

T

A

A

R

I

A

A

M

L

M

I

T

G

R

C

P

P

R

P

L

L

L

V

I

L

L

L

D

D

E

E

P

P

T

T

A

T

G

G

V

M

D

D

I

P

E

Q

I

A

R

R

G

M

M

L

W

W

Q

N

A

V

L

I

Q

V

E

S

I

I

N

I

A

R

A

E

G

G

T

R

T

A

I

V

L

L

T

T

T

S

H

H

Y

S

L

M

E

E

A

C

E

E

A

A

L

L

C

C

R

T

N

R

L

L

A

A

I

I

I

M

D

V

H

K

G

G

R

A

I

F

V

R

E

C

Q

M

G

G

S

T

M

I

R

Q

A

H

L

L

L

K

S

S

K

K

L

F

Sites not aligning to the query:

binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate: 285, 290, 526, 527, 589, 592, 1454

5x40A Structure of a cbio dimer bound with amppcp (see paper)
36% identity, 82% coverage: 12:274/319 of query aligns to 3:262/280 of 5x40A

query
sites
5x40A

P

P

A

I

L

L

S

A

I

A

R

E

D

A

L

L

R

T

K

Y

T

A

Y
x
F

A

P

G

G

V
|
V

E

K

A
|
A

L

L

R

D

G

D

V

L

S

S

L

L

D

A

V

V

A

P

P

K

G

G

D

E

F

S

Y

L

A

A

L

I

L

L

G

G

P

P

N
|
N

G
|
G

A

A

G
|
G

K
|
K

S
|
S

T
|
T

L

L

I

L

G

L

I

H

V

L

S

N

S

G

L

T

V

L

N

R

A

P

T

Q

S

S

G

G

T

R

V

V

E

L

V

L

F

G

G

G

V

T

D

A

I

T

A

G

R

H

R

S

R

R

G

K

E

D

A

L

M

T

-

G

-

W

-

R

R

R

L

R

I

V

G

G

L

L

V

V

P

L

Q
|
Q

E

D

I

A

N

D

F

D

N

Q

L

L

F

F

E

A

Q

T

P

T

F

V

D

F

I

E

L

D

V

V

N

S

Y

F

A

G

G

P

F

L

-

N

Y

L

G

G

V

L

P

S

R

E

A

A

E

E

A

A

A

R

E

A

R

R

A

V

E

E

A

E

E

A

L

L

R

A

A

A

A

L

H

S

L

I

W

S

G

D

K

L

A

R

R

D

T

R

M

P

S

T

R
x
H

T
x
M

L
|
L

S
|
S

G

G

G
|
G

M
x
Q

K

K

R

R

L

V

M

A

I

I

A

A

R

G

A

A

M

V

M

A

T

M

R

R

P

P

R

E

L

V

L

L

I

L

L

L

D

D

E
x
Q

P

P

T

T

A

A

G

G

V

L

D

D

I

L

E

A

I

G

R

T

R

E

G

Q

M

L

W

L

Q

T

A

L

L

L

Q

R

E

G

I

L

N

R

A

A

G

G

T

M

T

T

I

L

I

V

L

F

T

S

T

T

H
|
H

Y

D

L

V

E

E

E

L

A

A

E

A

A

A

L

L

C

A

R

D

N

R

L

V

A

A

I

L

I

F

D

R

H

T

G

G

R

R

I

V

V

L

E

A

Q

E

G

G

S

A

M

A

R

E

A

A

L

V

L

L

S

S

K

D

L

R

D

A

V

T

E

L

A

A

F

K

V

V

L

-

D

-

I

-

D

-

G

-

E

A

L

L

P

R

P

P

A

-

L

-

P

P

I

L

V

V

E

I

G

D

V

L

R

A

L

L

H

L

A

A

R

R

D

D

G

H

H

G

T

L

L

L

D

A

L

P

E

E

M

A

P

P

binding phosphomethylphosphonic acid adenylate ester: F14 (≠ Y23), V18 (= V27), A20 (= A29), N40 (= N49), G41 (= G50), G43 (= G52), K44 (= K53), S45 (= S54), T46 (= T55), Q88 (= Q94), H139 (≠ R144), M140 (≠ T145), L141 (= L146), S142 (= S147), G144 (= G149), Q145 (≠ M150), Q166 (≠ E171), H198 (= H203)
binding magnesium ion: S45 (= S54), Q88 (= Q94)

7e7qA Cryo-em structure of human abca4 in atp-bound state (see paper)
31% identity, 96% coverage: 5:311/319 of query aligns to 783:1091/1958 of 7e7qA

query
sites
7e7qA

R

R

E

E

A

H

V

P

G

G

S

W

P

V

P

P

A

G

L

V

S

C

I

V

R

K

D

N

L

L

R

V

K

K

T

I

Y
x
F

A

E

G

P

-
x
C

G

G

V

R

E

P

A
|
A

L

V

R

D

G

R

V

L

S

N

L

I

D

T

V

F

A

Y

P

E

G

N

D

Q

F

I

Y

T

A

A

L

F

L

L

G

G

P

H

N
|
N

G

G

A

A

G
|
G

K
|
K

S
x
T

T
|
T

L

T

I

L

G

S

I

I

V

L

S

T

S

G

L

L

V

L

N

P

A

P

T

T

S

S

G

G

T

T

V

V

E

L

V

V

F

G

G

G

V

R

D

D

I

I

A

E

R

T

R

S

R

L

G

D

E

A

A

V

M

R

R

Q

L

S

I

L

G

G

L

M

V

C

P

P

Q
|
Q

E

H

-

N

I

I

N

L

F

F

N

H

L

H

F

L

E

T

Q

V

P

A

F

E

D

H

I

M

L

L

V

F

N

-

Y

Y

A

A

G

Q

F

L

Y

K

G

G

V

K

P

S

R

Q

A

E

E

E

A

A

A

Q

E

L

R

E

A

M

E

E

A

A

E

M

L

L

R

E

A

D

A

T

H

G

L

L

W

H

G

H

K

K

A

R

R

N

T

E

M

E

S

A

R

Q

T

D

L

L

S
|
S

G

G

G
|
G

M

M

K

Q

R

R

R

K

L

L

M

S

I

V

A

A

R

I

A

A

M

F

M

V

T

G

R

D

P

A

R

K

L

V

I

I

L

L

D

D

E

Q

P

P

T

T

A

S

G

G

V

V

D

D

I

P

E

Y

I

S

R

R

G

S

M

I

W

W

Q

D

A

L

L

L

Q

L

E

K

I

Y

N

R

A

-

A

S

G

G

T

R

T

T

I

I

L

M

T

S

T

T

H

H

Y

H

L

M

E

D

E

E

A

A

E

D

A

L

L

L

C

G

R

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N

R

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I

A

A

I

I

D

A

H

Q

G

G

R

R

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V

Y

E

C

Q

S

G

G

S

T

-

P

-

L

-

F

-

L

-

K

-

N

-

C

-

F

-

G

-

T

-

G

M

L

R

Y

A

L

L

T

L

L

S

V

K

R

L

K

D

D

V

V

E

N

A

E

F

-

V

L

L

M

D

D

I

V

D

V

G

L

E

H

L

H

P

V

P

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A

E

L

A

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K

I

L

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V

E

E

G

C

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I

R

-

L

-

H

-

A

-

R

-

D

-

G

G

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Q

T

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L

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I

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M

L

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P

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K

S

H

M

R

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A

L

Y

N

A

R

S

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L

F

F

A

R

A

E

L

L

D

E

A

E

A

T

A

G

I

L

R

-

V

-

R

S

S

S

M

F

R

G

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I

R

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N

T

R

P

L

L

E

E

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F

F

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L

R

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M

V

T

T

binding adenosine-5'-triphosphate: F801 (≠ Y23), C804 (vs. gap), A808 (= A29), N828 (= N49), G831 (= G52), K832 (= K53), T833 (≠ S54), T834 (= T55), Q873 (= Q94), S926 (= S147), G928 (= G149)
binding magnesium ion: T833 (≠ S54), Q873 (= Q94)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1671, 1698, 1701, 1702, 1703, 1704, 1743, 1794, 1796
binding magnesium ion: 1703, 1743

Q9BZC7 ATP-binding cassette sub-family A member 2; ATP-binding cassette transporter 2; ATP-binding cassette 2; EC 7.6.2.- from Homo sapiens (Human) (see paper)
36% identity, 68% coverage: 11:228/319 of query aligns to 987:1204/2435 of Q9BZC7

query
sites
Q9BZC7

P

P

P

L

A

V

L

V

S

C

I

V

R

D

D

K

L

L

R

T

K

K

T

V

Y

Y

A

K

G

D

V

K

E

K

-

L

A

A

L

L

R

N

G

K

V

L

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S

L

L

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N

V

L

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P

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G

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D

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F

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Y

V

A

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F

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L

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G

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H

N

N

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G

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A

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G

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K

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T

I

M

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I

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S

G

L

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P

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N

I

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G

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Q

E

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I

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N

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F

-

N

N

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-

Q

-

P

-

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F

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-

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-

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K

A

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I

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H

H

Y

H

L

M

E

D

E

E

A

A

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A

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C

G

R

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N

R

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A

A

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H

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C

Q

C

G

G

S

S

Sites not aligning to the query:

271 modified: N5-methylglutamine; Q→R: Abolishes methylation by N6AMT1.

Q99758 Phospholipid-transporting ATPase ABCA3; ABC-C transporter; ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; ATP-binding cassette 3; Xenobiotic-transporting ATPase ABCA3; EC 7.6.2.1; EC 7.6.2.2 from Homo sapiens (Human) (see 15 papers)
35% identity, 73% coverage: 3:236/319 of query aligns to 1372:1605/1704 of Q99758

query
sites
Q99758

A

S

P

P

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S

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P

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A

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|
K

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L

A

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K

G

G

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A

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N

N

G

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A

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x
L

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L

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x
Q

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L

F

K1388 (= K21) to N: in SMDP3; decreases phosphatidylcholine transport; increases protein abundance; does not affect folding in the endoplasmic reticulum; decreases proteolytic processing; affects lamellar bodies development; reduces free cholesterol transport
L1553 (≠ M184) to P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs121909183
L1580 (= L211) to P: in SMDP3; does not affect location in intracellular vesicle membrane; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; affects the intracellular vesicles development; decreases phosphatidylcholine transport; mutation to A: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; mutation to F: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; mutation to V: Decreases ATP hydrolysis activity of 56% compared to the wild-type.
Q1591 (≠ R222) to P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs28936691

Sites not aligning to the query:

43 R → L: in SMDP3; uncertain significance
53 N→Q: Does not affect N-glycosylation. Does not affect protein expression. Does not affect lamellar body membrane location.
101 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; dbSNP:rs121909182
124 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→Q: Loss of N-glycosylation. Reduces protein expression by 50%. Affects anterograde trafficking; when associated with Q-140. Reduces protein expression by 85%; when associated with Q-140. Does not affect lamellar body membrane location.
140 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → H: in dbSNP:rs45447801; N→Q: Loss of N-glycosylation. Reduces protein expression by 50%. Affects anterograde trafficking; when associated with Q-124. Reduces protein expression by 85%; when associated with Q-140. Does not affect lamellar body membrane location.
173:174 LK→AA: Loss of proteolytic processing.
174:175 Cleavage; by CTSL
215 Q → K: in SMDP3; loss of lamellar bodies membrane location; loss of proteolytic cleavage; increases cellular free cholesterol and phosphatidylcholine transport; loss of vesicles formation; increases free cholesterol induced cell death; loss of protein oligomerization; dbSNP:rs879159551
280 R → C: in SMDP3; uncertain significance; does not affect protein oligomerization; dbSNP:rs201299260
288 R → K: in SMDP3; uncertain significance; does not affect protein oligomerization; dbSNP:rs117603931
290 L → M: in a breast cancer sample; somatic mutation
292 E → V: in SMDP3; uncertain significance; does not affect lamellar bodies membrane location; does not affect proteolytic cleavage; affects lamellar bodies formation; does not affect cholesterol and phosphatidylcholine transport; decreases vesicles formation; does not affect free cholesterol induced cell death; dbSNP:rs149989682
568 N → D: in SMDP3; does not affect location in intracellular vesicle membrane; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; does not affect protein expression; does not affect multivesicular bodies and lamellar bodies location; affects multivesicular bodies and lamellar bodies development; loss of phosphatidylcholine transport; does not affect cholesterol transport; dbSNP:rs121909184
579 L → P: in SMDP3; uncertain significance
605 R → Q: in SMDP3; uncertain significance; dbSNP:rs760006956
693 S→L: Does not affect protein oligomerization.
766 P → S: in dbSNP:rs45592239
801 E → D: in a breast cancer sample; somatic mutation
945 N→Q: Does not affect lamellar body membrane location. Does not affect protein expression. Does not affect proteolytic processing.
982 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs1402761450
1069 H → Q: in a breast cancer sample; somatic mutation
1076 N → K: in SMDP3; uncertain significance; dbSNP:rs2093663770
1221 G → S: in SMDP3; does not affect intracellular vesicle membrane location; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; G→A: Decreases ATP hydrolysis activity of 15% compared to the wild-type.; G→T: Decreases ATP hydrolysis activity of 36% compared to the wild-type.; G→V: Decreases ATP hydrolysis activity of 18% compared to the wild-type.
1302 G → E: in SMDP3; uncertain significance; dbSNP:rs2093657978

Q5SSE9 ATP-binding cassette sub-family A member 13; EC 7.6.2.- from Mus musculus (Mouse) (see paper)
35% identity, 64% coverage: 17:221/319 of query aligns to 4699:4907/5034 of Q5SSE9

query
sites
Q5SSE9

R

K

D

S

L

Y

R

R

K

S

T

V

Y

F

A

G

G

G

G

K

V

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E

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A

A

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G

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I

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S

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L

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I

A

P

P

R

G

G

D

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F

C

Y

F

A

G

L

L

G

G

P

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N

N

G

G

A

A

G

G

K
|
K

S

S

T

T

L

T

I

F

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K

I

I

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S

N

S

G

L

E

V

T

N

P

A

P

T

S

S

S

G

G

-

Y

-

T

-

V

-

I

-

R

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T

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V

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F

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M

V

V

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D

I

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A

A

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-

G

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I

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G

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A

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E

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A
x
R

A

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H

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H

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A

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L

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E

Q

I

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A

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G

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C

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A

I

A

I

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H

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S

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M

E

E

A

C

E

E

A

A

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C

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L

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A

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I

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M

D

V

H

D

G

G

K4735 (= K53) mutation to M: Does not affect intracellular vesicle localization.Affects cholesterol internalization.
R4818 (≠ A132) mutation to C: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.

Sites not aligning to the query:

3577 H→P: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.
3849 K→M: Does not affect intracellular vesicle localization. Affects cholesterol internalization.
3999 T→A: Does not affect protein expression. Affects intracellular vesicles localization. Impairs intracellular cholesterol accumulation in the vesicle.

P34358 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans (see 2 papers)
30% identity, 94% coverage: 16:315/319 of query aligns to 548:856/1704 of P34358

query
sites
P34358

I

V

R

R

D

N

L

L

R

V

K

K

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I

Y

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A

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G

T

-

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G

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A

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A

I

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L

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G

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N

N

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A

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G

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P

Q

Q

E

-

I

-

N

-

F

Y

N

N

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Q

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x
E

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Y

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Y

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-

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T

F

V

V

V

L

L

D

D

I

H

D

N

G

G

E

D

L

K

P

R

P

K

A

M

L

A

P

V

I

I

V

L

E

T

G

D

V

V

R

C

L

T

H

H

-

Y

-

V

-

K

-

E

-

A

-

E

-

R

-

G

A

E

R

M

D

H

G

G

H

Q

T

Q

L

I

D

E

L

I

E

I

M

L

P

P

-

E

-

A

R

R

S

K

M

K

D

E

L

F

N

V

R

P

V

L

F

F

A

Q

A

A

L

L

D

E

A

A

A

-

I

-

R

-

V

I

R

Q

S

D

M

R

R

N

T

Y

R

R

S

S

N

N

R

V

L

F

E

D

E

N

L

M

F

P

V

N

R

T

M

L

T

K

A

S

Q

Q

H

L

A

A

K586 (= K53) mutation to R: Cell corpses not engulfed.
E639 (≠ V109) mutation to G: Cell corpses not engulfed.

Sites not aligning to the query:

126 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1012 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1045 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1417 K→R: Some cell corpses not engulfed.

Query Sequence

>WP_043690930.1 NCBI__GCF_000559025.1:WP_043690930.1
MHAPREAVGSPPALSIRDLRKTYAGGVEALRGVSLDVAPGDFYALLGPNGAGKSTLIGIV
SSLVNATSGTVEVFGVDIARRRGEAMRLIGLVPQEINFNLFEQPFDILVNYAGFYGVPRA
EAAERAEAELRAAHLWGKARTMSRTLSGGMKRRLMIARAMMTRPRLLILDEPTAGVDIEI
RRGMWQALQEINAAGTTIILTTHYLEEAEALCRNLAIIDHGRIVEQGSMRALLSKLDVEA
FVLDIDGELPPALPIVEGVRLHARDGHTLDLEMPRSMDLNRVFAALDAAAIRVRSMRTRS
NRLEELFVRMTAQHAERAA

Or try a new SitesBLAST search

SitesBLAST's Database

SitesBLAST's database includes (1) SwissProt entries with experimentally-supported functional features; and (2) protein structures with bound ligands, from the BioLip database.

by Morgan Price, Arkin group
Lawrence Berkeley National Laboratory