SitesBLAST

Q8R420 Phospholipid-transporting ATPase ABCA3; ATP-binding cassette sub-family A member 3; Xenobiotic-transporting ATPase ABCA3; EC 7.6.2.1; EC 7.6.2.2 from Mus musculus (Mouse) (see paper)
35% identity, 68% coverage: 4:218/317 of query aligns to 528:741/1704 of Q8R420

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Q8R420

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Sites not aligning to the query:

292 E→V: Knockin new born mice are healthy and survive into adulthood without overt signs of respiratory distress. Knockin mice show a severe lung phenotype that begins with alveolar inflammatory cell infiltration at the early stage of the mouse life followed by aberrant lung remodeling with characteristics of diffuse parenchymal lung disease (DPLD)- and emphysema-like alveolar disruption in older mice.

Q8N139 ATP-binding cassette sub-family A member 6; EC 7.6.2.- from Homo sapiens (Human) (see 2 papers)
31% identity, 95% coverage: 11:312/317 of query aligns to 1282:1595/1617 of Q8N139

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N1322 (= N46) to S: in dbSNP:rs2302134

Sites not aligning to the query:

282 V → I: in dbSNP:rs4968839
875 M → I: in dbSNP:rs7212506
940 modified: carbohydrate, N-linked (GlcNAc...) asparagine

Q8IUA7 ATP-binding cassette sub-family A member 9; EC 7.6.2.- from Homo sapiens (Human) (see 2 papers)
32% identity, 95% coverage: 11:312/317 of query aligns to 1288:1603/1624 of Q8IUA7

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Q8IUA7

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K1306 (= K24) to T: in dbSNP:rs2302294

Sites not aligning to the query:

353 R → H: in dbSNP:rs1860447
949 modified: carbohydrate, N-linked (GlcNAc...) asparagine

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)
34% identity, 75% coverage: 6:244/317 of query aligns to 899:1135/2261 of O95477

query
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O95477

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D917 (≠ K28) to Y: in a colorectal cancer sample; somatic mutation
T929 (≠ F40) 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 (= N46) to S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs28937313
K939 (= K50) 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 (≠ L150) modified: Phosphoserine; by PKA
P1065 (≠ V173) natural variant: P -> S
M1091 (≠ L200) to T: in FHA1; loss of localization to plasma membrane; decreased cholesterol efflux; decreased phospholipid efflux
C1110 (≠ I219) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1111.
C1111 (≠ A220) 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)
34% identity, 75% coverage: 6:244/317 of query aligns to 899:1135/2261 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

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, 68% coverage: 4:218/317 of query aligns to 528:741/1704 of Q99758

query
sites
Q99758

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N568 (= N46) to 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
L579 (≠ M57) to P: in SMDP3; uncertain significance
R605 (≠ K83) to Q: in SMDP3; uncertain significance; dbSNP:rs760006956
S693 (≠ A169) mutation to L: Does not affect protein oligomerization.

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
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
1388 K → 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
1553 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs121909183
1580 L → 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; L→A: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; L→F: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; L→V: Decreases ATP hydrolysis activity of 56% compared to the wild-type.
1591 Q → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs28936691

7roqA Alternative structure of human abca1
37% identity, 61% coverage: 29:220/317 of query aligns to 789:981/1831 of 7roqA

query
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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)
33% identity, 76% coverage: 6:247/317 of query aligns to 754:993/1928 of 7tbwA

query
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G

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S

T

S

R

L

E

F

L

L

V

K

G

N

M

Q

M

L

G

G

E

T

K

G

I

Y

A

L

L

T

T

L

V

V

D

K

S

S

D

A

V

I

G

S

A

N

L

L

binding adenosine-5'-triphosphate: Y763 (= Y15), D765 (≠ G17), K768 (= K20), N790 (= N46), G791 (= G47), G793 (= G49), K794 (= K50), T795 (≠ S51), Q835 (= Q91), Q887 (≠ T140), S889 (= S142), H944 (= H198)
binding magnesium ion: Q835 (= Q91), D912 (= D165), Q913 (≠ E166)

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

7w02A Cryo-em structure of atp-bound abca3 (see paper)
34% identity, 68% coverage: 4:218/317 of query aligns to 493:706/1566 of 7w02A

query
sites
7w02A

A

A

A

G

I

I

E

K

I

I

R

K

D

H

L

L

R

S

K

K

E

V

Y
x
F

A

R

G

V

S

G

A

N

K

K

A

-

P

-

P

D

K

R

L

A

A

A

L

V

K

R

G

D

V

L

S

N

F

L

D

N

V

L

P

Y

Q

E

G

G

S

Q

V

I

F

T

G

V

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

N

S

I

M

M

L

A

T

G

G

L

L

V

F

N

P

K

P

T

T

G

S

G

G

T

R

V

A

R

Y

I

I

W

S

G

G

R

Y

D

E

I

I

D

S

E

Q

D

D

H

M

R

V

N

Q

A

I

K

R

L

K

N

S

I

L

G

G

I

L

V

C

P

P

Q
|
Q

-

H

E

D

I

I

V

L

F

F

D

D

P

N

F

L

F

-

T

-

P

-

Y

-

E

-

V

T

L

V

E

A

N

E

Q

H

S

L

G

Y

F

F

Y

Y

G

A

I

Q

A

L

K

K

A

G

L

L

R

S

R

R

S

Q

E

K

-

C

-

P

-

E

-

V

-

K

E

Q

L

M

L

L

R

H

A

I

V

I

R

G

L

L

E

E

D

D

K

K

R

W

D

N

A

S

Y

R

A

S

R

R

T

F

L
|
L

S
|
S

G

G

M

M

K

R

R

R

R

K

L

L

L

S

I

I

A

G

K

I

A

A

M

L

V

I

H

A

S

G

P

S

P

K

I

V

L

L

V

I

L

L

D

D

E

Q

P

P

T

T

A

S

G

G

V

M

D

D

V

A

E

I

L

S

R

R

K

R

Q

A

L

I

W

W

E

D

L

L

V

L

G

Q

E

R

L

Q

N

K

A

S

E

D

G

R

V

-

T

T

V

I

V

V

L

L

T

T

H

H

Y

F

L

M

E

D

E

E

A

A

E

D

E

L

L

L

C

G

E

D

Q

R

I

I

A

A

I

I

I

M

N

A

H

K

G

G

E

E

L

L

binding adenosine-5'-triphosphate: F504 (≠ Y15), N533 (= N46), G534 (= G47), G536 (= G49), K537 (= K50), T538 (≠ S51), T539 (= T52), Q578 (= Q91), L630 (= L141), S631 (= S142)
binding magnesium ion: T538 (≠ S51), Q578 (= Q91)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1277, 1305, 1306, 1307, 1308, 1309, 1310, 1344, 1395, 1398
binding magnesium ion: 1310, 1344

P34358 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans (see 2 papers)
34% identity, 73% coverage: 2:232/317 of query aligns to 542:769/1704 of P34358

query
sites
P34358

A

A

D

R

A

A

A

D

I

I

E

I

I

V

R

R

D

N

L

L

R

V

K

K

E

I

Y

W

A

S

G

T

S

T

A

G

K

E

A

R

P

-

K

-

L

-

A

A

L

V

K

D

G

G

V

L

S

S

F

L

D

R

V

A

P

V

Q

R

G

G

S

Q

V

C

F

S

G

I

L

L

G

G

P

H

N

N

G

G

A

A

G

G

K
|
K

S

S

T

T

L

T

I

F

N

S

I

S

M

I

A

A

G

G

L

I

V

I

N

R

K

P

T

T

G

N

G

G

T

R

V

I

R

T

I

I

W

C

G

G

R

Y

D

D

I

V

D

G

E

N

D

E

H

P

R

G

N

E

A

T

K

R

L

R

N

H

I

I

G

G

I

M

V

C

P

P

Q

Q

E

-

I

-

V

-

F

Y

D

N

P

P

F

L

F

Y

T

D

P

Q

Y

L

E

T

V

V

L

S

E
|
E

N

H

Q

L

S

K

G

L

F

V

Y

Y

G

G

I

L

A

K

K

G

A

A

L

R

R

E

R

K

S

D

-

F

-

K

-

Q

-

D

-

M

E

K

E

R

L

L

R

S

A

D

V

V

R

K

L

L

E

D

D

F

K

K

R

E

D

N

A

E

Y

K

A

A

R

V

T

N

L

L

S

S

G

G

M

M

K

K

R

R

R

K

L

L

L

C

I

V

A

C

K

M

A

A

M

L

V

I

H

G

S

D

P

S

P

E

I

V

L

V

V

L

L

L

D

D

E

E

P

P

T

T

A

A

G

G

V

M

D

D

V

P

E

G

L

A

R

R

K

Q

Q

D

L

V

W

Q

E

K

L

L

V

V

G

-

E

E

L

R

N

E

A

K

E

A

G

N

V

R

T

T

V

I

V

L

L

L

T

T

H

H

Y

Y

L

M

E

D

E

E

A

A

E

E

E

R

L

L

C

G

E

D

Q

W

I

V

A

F

I

I

I

M

N

S

H

H

G

G

E

K

L

L

I

V

A

A

N

S

K

G

P

T

T

N

R

Q

E

Y

L

L

V

K

G

Q

M

K

M

F

G

G

K586 (= K50) mutation to R: Cell corpses not engulfed.
E639 (= E106) 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.

E9Q876 Glucosylceramide transporter ABCA12; ATP-binding cassette sub-family A member 12; EC 7.6.2.1 from Mus musculus (Mouse) (see 2 papers)
35% identity, 62% coverage: 24:218/317 of query aligns to 1358:1555/2595 of E9Q876

query
sites
E9Q876

K

K

L

T

A

A

L

V

K

E

G

N

V

L

S

N

F

L

D

N

V

F

P

Y

Q

E

G

G

S

H

V

I

F

T

G

S

L

L

G

G

P

P

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

I
|
I

N
x
S

I
x
M

M
x
L

A
x
T

G
|
G

L
|
L

V
x
F

N
x
G

K
x
A

T
|
T

G
x
A

G
|
G

T
|
T

V
x
I

R
x
F

I
x
V

W
x
Y

G
|
G

R
x
K

D
|
D

I
|
I

D
x
K

E
x
T

D
|
D

H
x
L

R
x
N

N
x
T

A
x
V

K
x
R

L
x
K

N
|
N

I
x
M

G
|
G

I
x
V

V
x
C

P
x
M

Q
|
Q

E
x
H

I
x
D

V
|
V

F
x
L

D
x
F

P
x
S

F
x
Y

F
x
L

T
|
T

P
x
T

Y
x
K

E
|
E

V
x
H

L
|
L

E
x
L

N

-

Q

-

S

-

G

-

F
x
L

Y
|
Y

G
|
G

I
x
S

A
x
I

K
|
K

A
x
V

L
x
P

R
x
H

R
x
W

S
x
T

-
x
K

-
x
T

-
x
Q

-
x
L

-
x
H

E
|
E

L
x
V

L
x
K

R
|
R

A

T

V

L

R

K

-

D

-

T

-

G

L

L

E

Y

D

S

K

H

R

R

D

H

A

K

Y

R

A

V

R

G

T

T

L

L

S

S

G

G

M

M

K

K

R

R

R

K

L

L

L

S

I

I

A

S

K

I

A

A

M

L

V

I

H

G

S

G

P

S

P

R

I

V

L

V

V

I

L

L

D

D

E

E

P

P

T

S

A

T

G

G

V

V

D

D

V

P

E

C

L

S

R

R

K

R

Q

S

L

I

W

W

E

D

L

V

V

I

G

S

E

K

L

-

N

N

A

K

E

T

G

A

V

R

T

T

V

I

L

L

T

S

T

T

H

H

Y

H

L

L

E

D

E

E

A

A

E

E

E

V

L

L

C

S

E

D

Q

R

I

I

A

A

I

F

I

L

N

E

H

Q

G

G

E

G

L

L

1388:1461 (vs. 54:126, 29% identical) mutation to M: In a mouse model for harlequin ichthyosis (HI), smooth skin (smsk) mutant mice show a pronounced perinatal lethal skin phenotype in 25% of the offspring and newborn mutant pups die within a few hours after birth, and appear severely dehydrated with dry cracking skin. Smsk homozygous mutants embryos show a normal appearance at 14.5 dpc, but at 16.5 dpc develop a partial absence of normal skin folds around the trunk and limbs, and by 18.5 dpc develop a taut, thick skin and limb contractures.

Sites not aligning to the query:

1996 G→D: In a mouse model for harlequin ichthyosis (HI), homozygous mice are embryonic lethal but occasionally pups are found in the first few hours after birth but die and are severely dehydrated and fail to suckle normally. Homozygous pups show hallmarks of HI desease including hyperkeratosis, abnormal extracellular lipid lamellae and defects in cornified envelope processing. At 14.5 dpc and 15.5 dpc homozygous embryos appear normal; however from 16.5 dpc onwards they are characterized by an absence of normal skin folds around the trunk and limbs. As development progressed, embryos develop a taut, thick epidermis and multiple contractures affecting the limbs. Late stage embryos are smaller.

Q5SSE9 ATP-binding cassette sub-family A member 13; EC 7.6.2.- from Mus musculus (Mouse) (see paper)
31% identity, 90% coverage: 26:309/317 of query aligns to 4711:5010/5034 of Q5SSE9

query
sites
Q5SSE9

A

A

L

V

K

H

G

G

V

I

S

S

F

L

D

G

V

I

P

P

Q

R

G

G

S

E

V

C

F

F

G

G

L

L

G

G

P

V

N

N

G

G

A

A

G

G

K
|
K

S

S

T

T

L

T

I

F

N

K

I

I

M

L

A

N

G

G

L

E

V

T

N

P

K

P

T

S

G

S

G

G

T

Y

V

T

R

V

I

I

-

R

-

T

-

P

W

Q

G

G

R

D

D

M

I

V

D

D

-

L

E

A

D

S

H

A

R

G

N

K

A

A

K

G

L

I

N

L

I

I

G

G

I

Y

V

C

P

P

Q

Q

E

Q

I

D

V

A

F

L

D

D

P

E

F

L

T

T

P

G

Y

W

E

E

V

H

L

L

E

Q

N

Y

Q

Y

S

C

G

R

F

L

Y

R

G

G

I

I

A

P

K

K

A

Q

L

Y

-

I

-

P

R

E

R

V

S

A

E

A

E

D

L

L

L

V

R

R

A
x
R

V

L

R

H

L

L

E

E

D

S

K

H

R

V

D

D

A

K

Y

P

A

V

R

A

T

T

L

Y

S

S

G

G

M

T

K

R

R

R

R

K

L

L

L

S

I

T

A

A

K

L

A

A

M

L

V

V

H

G

S

K

P

P

P

D

I

I

L

L

V

L

L

L

D

D

E

E

P

P

T

S

A

S

G

G

V

M

D

D

V

P

E

C

L

S

R

K

K

R

Q

Y

L

L

W

W

E

Q

L

T

V

I

G

T

E

Q

L

E

N

V

A

R

E

D

G

G

V

C

T

A

V

A

V

V

L

L

T

T

T

S

H

H

Y

S

L

M

E

E

A

C

E

E

E

A

L

L

C

C

E

T

Q

R

I

L

A

A

I

I

I

M

N

V

H

D

G

G

E

S

L

F

I

R

A

C

N

L

K

G

P

P

T

P

R

Q

E

H

L

I

V

K

G

N

M

R

M

F

G

G

E

D

K

G

I

Y

I

T

A

V

L

K

T

V

V

W

D

L

S

H

D

K

V

E

G

G

A

S

L

Q

P

P

A

S

-

A

-

V

-

S

-

D

-

C

-

L

D

K

P

L

R

H

F

F

R

P

K

G

C

I

Q

Q

S

F

V

K

G

G

E

Q

R

R

-

L

-

N

V

L

I

L

E

E

I

Y

T

H

Y

V

D

Q

K

K

S

S

E

W

M

E

T

C

A

L

G

A

Q

D

V

L

L

F

A

K

Q

V

V

L

Q

E

A

N

Q

N

G

K

-

S

-

L

F

L

T

N

I

I

E

E

D

H

V

Y

S

S

T

I

R

S

E

Q

A

T

D

T

L

L

E

E

D

Q

V

V

F

F

V

V

Q

N

L

F

T

A

G

T

E

E

K4735 (= K50) mutation to M: Does not affect intracellular vesicle localization.Affects cholesterol internalization.
R4818 (≠ A127) 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.

8k1pB Mycobacterial efflux pump, adp+vanadate bound state
36% identity, 68% coverage: 6:219/317 of query aligns to 4:208/213 of 8k1pB

query
sites
8k1pB

I

I

E

E

I

I

R

R

D

G

L

L

R

T

K

K

E

H

Y
x
F

A

-

G

G

S

S

A

V

K

R

A

A

P

-

K

-

L

-

A

-

L

L

K

D

G

G

V

L

S

D

F

L

D

T

V

V

P

R

Q

E

G

G

S

E

V

V

F

H

G

G

L

F

L

L

G

G

P

P

N
|
N

G
|
G

A
|
A

G
|
G

K
|
K

S
|
S

T
|
T

L

T

I

L

N

R

I

I

M

L

A

L

G

G

L

L

V

V

N

K

K

A

T

D

G

G

T

S

V

V

R

R

I

L

W

L

G

G

R

G

D

D

I

P

D

W

E

T

D

D

H

A

R

V

N

D

A

L

K

H

L

R

N

H

I

I

G

A

I

Y

V

V

P

P

Q

G

E

D

I

V

V

T

F

L

D

W

P

P

F

S

F

L

T

T

P

G

Y

G

E

E

V

T

L

I

E

D

N

L

Q

L

S

A

G

R

F

M

Y

R

G

G

I

G

A

I

K

D

A

N

L

A

R

R

S

A

E

-

E

E

L

L

L

I

R

E

A

R

V

F

R

G

L

L

E

D

D

P

K

T

R

K

D

K

A

-

Y

-

A

A

R

R

T
|
T

L

Y

S
|
S

G

K

G

G

M

N

K

R

R

Q

R

K

L

V

L

S

I

L

A

I

K

S

A

A

M

L

V

S

H

S

S

H

P

A

P

T

I

L

L

L

V

L

L

L

D

D

E

E

P

P

T

S

A

S

G

G

V

L

D

D

V

P

E

L

L

M

R

E

K

N

Q

V

L

F

W

Q

E

Q

L

C

V

I

G

G

E

E

L

A

N

R

A

Q

E

R

G

G

V

V

T

T

V

V

V

L

L

L

T

S

H

H

Y

I

L

L

E

A

E

E

A

T

E

E

E

A

L

L

C

C

E

E

Q

K

I

V

A

T

I

I

N

R

H

A

G

G

E

K

L

T

I

V

binding adenosine-5'-diphosphate: F13 (≠ Y15), N38 (= N46), G39 (= G47), A40 (= A48), G41 (= G49), K42 (= K50), S43 (= S51), T44 (= T52)
binding adenosine-5'-triphosphate: T129 (= T140), S131 (= S142)

8k1oB Mycobacterial efflux pump, amppnp bound state
36% identity, 68% coverage: 6:219/317 of query aligns to 6:210/215 of 8k1oB

query
sites
8k1oB

I

I

E

E

I

I

R

R

D

G

L

L

R

T

K

K

E

H

Y

F

A

-

G

G

S

S

A

V

K

R

A

A

P

-

K

-

L

-

A

-

L

L

K

D

G

G

V

L

S

D

F

L

D

T

V

V

P

R

Q

E

G

G

S

E

V

V

F

H

G

G

L

F

L

L

G

G

P

P

N
|
N

G

G

A

A

G
|
G

K
|
K

S
|
S

T
|
T

L

T

I

L

N

R

I

I

M

L

A

L

G

G

L

L

V

V

N

K

K

A

T

D

G

G

T

S

V

V

R

R

I

L

W

L

G

G

R

G

D

D

I

P

D

W

E

T

D

D

H

A

R

V

N

D

A

L

K

H

L

R

N

H

I

I

G

A

I

Y

V

V

P

P

Q

G

E

D

I

V

V

T

F

L

D

W

P

P

F

S

F

L

T

T

P

G

Y

G

E

E

V

T

L

I

E

D

N

L

Q

L

S

A

G

R

F

M

Y

R

G

G

I

G

A

I

K

D

A

N

L

A

R

R

S

A

E

-

E

E

L

L

L

I

R

E

A

R

V

F

R

G

L

L

E

D

D

P

K

T

R

K

D

K

A

-

Y

-

A

A

R

R

T
|
T

L

Y

S
|
S

G

K

G

G

M

N

K

R

R

Q

R

K

L

V

L

S

I

L

A

I

K

S

A

A

M

L

V

S

H

S

S

H

P

A

P

T

I

L

L

L

V

L

L

L

D

D

E

E

P

P

T

S

A

S

G

G

V

L

D

D

V

P

E

L

L

M

R

E

K

N

Q

V

L

F

W

Q

E

Q

L

C

V

I

G

G

E

E

L

A

N

R

A

Q

E

R

G

G

V

V

T

T

V

V

V

L

L

L

T

S

H

H

Y

I

L

L

E

A

E

E

A

T

E

E

E

A

L

L

C

C

E

E

Q

K

I

V

A

T

I

I

N

R

H

A

G

G

E

K

L

T

I

V

binding phosphoaminophosphonic acid-adenylate ester: N40 (= N46), G43 (= G49), K44 (= K50), S45 (= S51), T46 (= T52), T131 (= T140), S133 (= S142)

P30750 Methionine import ATP-binding protein MetN; EC 7.4.2.11 from Escherichia coli (strain K12) (see 3 papers)
32% identity, 73% coverage: 26:256/317 of query aligns to 20:265/343 of P30750

query
sites
P30750

A

A

L

L

K

N

G

N

V

V

S

S

F

L

D

H

V

V

P

P

Q

A

G

G

S

Q

V

I

F

Y

G

G

L

V

L

I

G

G

P

A

N
x
S

G
|
G

A
|
A

G
|
G

K
|
K