SitesBLAST

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)
33% identity, 66% coverage: 13:211/302 of query aligns to 539:741/1704 of Q99758

query
sites
Q99758

F

F

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R

F

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G

G

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N

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A

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L

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N568 (= N40) 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 (= L51) to P: in SMDP3; unknown pathological significance
R605 (≠ L77) to Q: in SMDP3; unknown pathological significance; dbSNP:rs760006956
S693 (≠ N161) mutation to L: Does not affect protein oligomerization.

Sites not aligning to the query:

43 R → L: in SMDP3; unknown pathological 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; unknown pathological significance; does not affect protein oligomerization; dbSNP:rs201299260
288 R → K: in SMDP3; unknown pathological significance; does not affect protein oligomerization; dbSNP:rs117603931
290 L → M: in a breast cancer sample; somatic mutation
292 E → V: in SMDP3; unknown pathological 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; unknown pathological significance
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; unknown pathological significance
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

7lkpA Structure of atp-free human abca4 (see paper)
33% identity, 66% coverage: 17:216/302 of query aligns to 745:946/1941 of 7lkpA

query
sites
7lkpA

N

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binding Digitonin: H819 (≠ G91), Q863 (≠ N131)

Sites not aligning to the query:

binding Digitonin: 518, 519, 522, 526, 530, 533, 534, 612, 613, 616, 617, 1493, 1496
binding cholesterol: 9, 10, 13, 21, 29, 560, 617, 621, 1066, 1070, 1072, 1073, 1074, 1076, 1402, 1433, 1433, 1436, 1436, 1483, 1486, 1487, 1491, 1492, 1493, 1495, 1496, 1496, 1499, 1500, 1595, 1599, 1603

F1MWM0 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) (see 2 papers)
34% identity, 65% coverage: 21:216/302 of query aligns to 946:1143/2281 of F1MWM0

query
sites
F1MWM0

V

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T

Sites not aligning to the query:

415 modified: carbohydrate, N-linked (Hex...) asparagine
504 modified: carbohydrate, N-linked (Hex...) asparagine
901 modified: Phosphothreonine; T→A: Decreases expression level. Affects subcellular location.
1185 modified: Phosphoserine; S→A: Does not affect subcellular location. Does not affect expression level. Does not affect ATPase activity. Reduces the stimulating effect of all-trans-retinal on ATP hydrolysis.
1309 Cleavage; by trypsin
1313 modified: Phosphothreonine; T→A: Does not affect subcellular location. Does not affect expression level. Does not affect ATPase activity. Reduces the stimulating effect of all-trans-retinal on ATP hydrolysis.
1317 modified: Phosphoserine; S→A: Does not affect subcellular location. Does not affect expression level. Affects both the basal and stimulated ATPase activity.
1319 modified: Phosphoserine
1455 modified: carbohydrate, N-linked (Hex...) asparagine
1527 modified: carbohydrate, N-linked (Hex...) asparagine
1660 modified: carbohydrate, N-linked (Hex...) asparagine

7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
33% identity, 66% coverage: 18:216/302 of query aligns to 822:1022/2003 of 7e7oA

query
sites
7e7oA

Q

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T

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, 588, 589, 592, 593, 1327, 1454

7w02A Cryo-em structure of atp-bound abca3 (see paper)
33% identity, 66% coverage: 13:211/302 of query aligns to 504:706/1566 of 7w02A

query
sites
7w02A

F
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F

N

R

F

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G

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A

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G

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T

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x
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S

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L

T

L

A

G

T

D

H

R

V

I

G

A

I

I

I

M

N

A

K

K

G

G

Q

E

L

L

binding adenosine-5'-triphosphate: F504 (= F13), A513 (≠ I20), N533 (= N40), G534 (= G41), G536 (= G43), K537 (= K44), T538 (= T45), T539 (= T46), Q578 (≠ E85), K622 (≠ A125), F629 (≠ K132), L630 (≠ Y133), S631 (= S134), G632 (≠ L135), G633 (= G136), M634 (= M137), Q655 (≠ E158), H686 (= H191)
binding magnesium ion: T538 (= T45), Q578 (≠ E85)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 1277, 1283, 1304, 1305, 1306, 1307, 1308, 1309, 1310, 1311, 1344, 1388, 1391, 1395, 1397, 1398, 1399, 1421, 1453
binding magnesium ion: 1310, 1344

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 41 papers)
33% identity, 65% coverage: 21:216/302 of query aligns to 946:1143/2273 of P78363

query
sites
P78363

V
|
V

K
x
D

D
x
R

L
|
L

S
x
N

L
x
I

Q
x
T

V
x
F

P
x
Y

K
x
E

G
x
N

S
x
Q

I
|
I

Y
x
T

G
x
A

F
|
F

L
|
L

G
|
G

P
x
H

N
|
N

G
|
G

A
|
A

G
|
G

K
|
K

T
|
T

I
x
L

K
x
S

I
|
I

L
|
L

L
x
T

N
x
G

L
|
L

K
x
P

S
x
P

P
x
T

S
|
S

D
x
G

Q
x
T

V
|
V

F
x
L

I
x
V

F
x
G

G
|
G

K
x
R

E
x
D

I
|
I

N
x
E

S
x
T

N
x
S

R
x
L

I
x
D

A
|
A

T
x
V

L
x
R

K
x
Q

R
x
S

I
x
L

G
|
G

A
x
M

L
x
C

V
x
P

E
x
Q

Q
x
H

P
x
N

A
x
I

I
x
L

Y
x
F

G
x
H

H
|
H

L
|
L

T
|
T

G
x
V

K
x
A

E
|
E

N
x
H

L
x
M

I
x
L

N
x
F