SitesBLAST

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)
39% identity, 70% coverage: 1:223/318 of query aligns to 888:1111/2261 of O95477

query
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O95477

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D917 (≠ G31) to Y: in a colorectal cancer sample; somatic mutation
T929 (≠ F43) 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 (≠ L153) modified: Phosphoserine; by PKA
P1065 (≠ V176) natural variant: P -> S
M1091 (≠ L203) to T: in FHA1; loss of localization to plasma membrane; decreased cholesterol efflux; decreased phospholipid efflux
C1110 (≠ I222) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1111.
C1111 (≠ T223) 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)
39% identity, 70% coverage: 1:223/318 of query aligns to 888:1111/2261 of P41233

query
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P41233

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Sites not aligning to the query:

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

7roqA Alternative structure of human abca1
41% identity, 60% coverage: 32:223/318 of query aligns to 789:981/1831 of 7roqA

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7roqA

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Sites not aligning to the query:

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

7tbwA The structure of atp-bound abca1 (see paper)
40% identity, 68% coverage: 7:223/318 of query aligns to 754:966/1928 of 7tbwA

query
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binding adenosine-5'-triphosphate: Y763 (= Y16), D765 (≠ S23), K768 (= K27), N790 (= N49), G791 (= G50), G793 (= G52), K794 (= K53), T795 (≠ S54), Q835 (= Q94), Q887 (≠ S143), S889 (= S145), H944 (= H201)
binding magnesium ion: Q835 (= Q94), D912 (= D168), Q913 (≠ E169)

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

8f5bA Human abca4 structure in complex with amp-pnp (see paper)
32% identity, 96% coverage: 4:309/318 of query aligns to 1613:1919/1924 of 8f5bA

query
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8f5bA

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G

G

-

V

-

S

-

F

-

D

-

V

V

P

R

Q

P

G

G

Q

E

I

C

F

F

G

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

N

K

T

M

L

L

A

T

G

G

L

D

V

T

M

T

K

V

S

T

S

S

G

G

S

D

V

A

E

T

I

V

W

A

G

G

F

K

D

S

I

I

D

L

R

T

E

N

P

I

R

S

N

E

A

V

K

H

A

Q

S

N

I

M

G

G

I

Y

V

C

P

P

Q
|
Q

E

F

I

D

V

A

F

I

D

D

P

E

F

L

T

T

P

G

L

R

E

E

V

H

L

L

D

Y

I

L

Q

Y

A

A

G

R

L

L

Y

R

G

G

V

V

P

P

A

A

P

E

V

E

-

I

-

E

R

K

R

V

S

A

M

N

E

W

L

S

L

I

K

K

S

S

V

L

H

G

L

L

A

T

D

V

K

Y

A

A

N

D

A

C

Y

L

A

A

R

G

S
x
T

L

Y

S
|
S

G

G

M

N

K

K

R

R

R

K

L

L

L

S

I

T

A

A

K

I

A

A

M

L

V

I

H

G

T

C

P

P

I

L

L

V

V

L

L

L

D

D

E

E

P

P

T

T

A

T

G

G

V

M

D

D

V

P

E

Q

L

A

R

R

L

M

L

L

W

W

E

N

L

V

V

I

V

V

D

S

L

I

N

I

N

R

Q

E

G

G

V

R

T

A

I

V

V

V

L

L

T

T

T

S

H

H

Y

S

L

M

E

E

A

C

E

E

Q

A

L

L

C

C

D

T

R

R

I

L

A

A

I

I

I

M

N

V

H

K

G

G

R

A

L

F

I

R

T

C

N

M

Q

G

P

T

T

I

R

Q

E

H

L

L

V

K

G

S

M

K

M

F

R

G

E

D

K

G

I

Y

V

I

V

V

L

-

T

T

L

M

D

K

R

I

P

K

I

S

D

D

A

L

A

N

P

P

Q

V

H

E

E

Q

A

F

F

F

V

Q

K

G

S

N

T

F

I

P

S

G

S

S

-

V

E

Q

R

R

E

E

L

R

R

H

V

Y

T

N

Y

M

N

L

K

Q

D

F

R

Q

I

V

N

S

A

S

G

S

V

L

L

A

A

R

L

I

V

F

Q

Q

S

L

L

L

-

L

-

S

-

H

-

K

-

D

G

S

Y

L

G

L

I

I

V

E

D

E

V

Y

S

S

T

V

D

T

E

Q

A

T

D

T

L

L

E

D

D

Q

V

V

F

F

V

V

K

N

L

F

binding phosphoaminophosphonic acid-adenylate ester: N1652 (= N49), G1653 (= G50), A1654 (= A51), G1655 (= G52), K1656 (= K53), T1657 (≠ S54), Q1697 (= Q94), T1748 (≠ S143), S1750 (= S145)
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

7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
38% identity, 68% coverage: 4:219/318 of query aligns to 1700:1911/2003 of 7e7oA

query
sites
7e7oA

T

T

P

D

A

I

I

L

R

R

I

L

R

H

D

E

L

L

V

T

K

K

R

I

Y

Y

A

-

P

P

A

G

G

T

S

S

K

S

S

P

G

A

E

V

G

D

K

R

L

L

A

C

L

V

G

G

G

-

V

-

S

-

F

-

D

-

V

V

P

R

Q

P

G

G

Q

E

I

C

F

F

G

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

N

K

T

M

L

L

A

T

G

G

L

D

V

T

M

T

K

V

S

T

S

S

G

G

S

D

V

A

E

T

I

V

W

A

G

G

F

K

D

S

I

I

D

L

R

T

E

N

P

I

R

S

N

E

A

V

K

H

A

Q

S

N

I

M

G

G

I

Y

V

C

P

P

Q

Q

E

F

I

D

V

A

F

I

D

D

P

E

F

L

T

T

P

G

L

R

E

E

V

H

L

L

D

Y

I

L

Q

Y

A

A

G

R

L

L

Y

R

G

G

V

V

P

P

A

A

P

E

V

E

-

I

-

E

R

K

R

V

S

A

M

N

E

W

L

S

L

I

K

K

S

S

V

L

H

G

L

L

A

T

D

V

K

Y

A

A

N

D

A

C

Y

L

A

A

R

G

S

T

L

Y

S

S

G

G

M

N

K

K

R

R

R

K

L

L

L

S

I

T

A

A

K

I

A

A

M

L

V

I

H

G

T

C

P

P

I

L

L

V

V

L

L

L

D

D

E

E

P

P

T

T

A

T

G

G

V

M

D

D

V

P

E

Q

L

A

R

R

L

M

L

L

W

W

E

N

L

V

V

I

V

V

D

S

L

I

N

I

N

R

Q

E

G

G

V

R

T

A

I

V

V

V

L

L

T

T

T

S

H

H

Y

S

L

M

E

E

A

C

E

E

Q

A

L

L

C

C

D

T

R

R

I

L

A

A

I

I

I

M

N

V

H

K

G

G

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

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)
38% identity, 68% coverage: 4:219/318 of query aligns to 1935:2146/2273 of P78363

query
sites
P78363

T
|
T

P
x
D

A
x
I

I
x
L

R
|
R

I
x
L

R
x
H

D
x
E

L
|
L

V
x
T

K
|
K

R
x
I

Y
|
Y

A

-

P
|
P

A
x
G

G
x
T

S
|
S

K
x
S

S
x
P

G
x
A

E
x
V

G
x
D

K
x
R

L
|
L

A
x
C

L
x
V

G
|
G

G

-

V

-

S

-

F

-

D

-

V
|
V

P
x
R

Q
x
P

G
|
G

Q
x
E

I
x
C

F
|
F

G
|
G

L
|
L

G
|
G

P
x
V

N
|
N

G
|
G

A
|
A

G
|
G

K
|
K

S
x
T

T
|
T