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)
31% identity, 82% coverage: 34:236/248 of query aligns to 552:752/1704 of Q99758

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Q99758

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N568 (= N50) 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 (≠ I61) to P: in SMDP3; uncertain significance
R605 (= R89) to Q: in SMDP3; uncertain significance; dbSNP:rs760006956
S693 (≠ E176) 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
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
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

4ymuJ Crystal structure of an amino acid abc transporter complex with arginines and atps (see paper)
28% identity, 87% coverage: 15:229/248 of query aligns to 1:218/240 of 4ymuJ

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binding adenosine-5'-triphosphate: F11 (≠ Y25), V16 (= V30), S36 (≠ N50), G37 (= G51), S38 (≠ M52), G39 (= G53), K40 (= K54), S41 (≠ T55), T42 (= T56), E162 (= E173), H194 (≠ K205)
binding magnesium ion: S41 (≠ T55), E162 (= E173)

4s0fA Crystal structure of the peptidase-containing abc transporter pcat1 e648q mutant complexed with atpgs in an occluded conformation (see paper)
32% identity, 86% coverage: 16:229/248 of query aligns to 329:545/565 of 4s0fA

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binding phosphothiophosphoric acid-adenylate ester: Y338 (= Y25), S364 (≠ N50), G365 (= G51), K368 (= K54), T369 (= T55), N465 (≠ F147), L466 (= L148), S467 (= S149), E468 (≠ G150)

7w02A Cryo-em structure of atp-bound abca3 (see paper)
31% identity, 82% coverage: 34:236/248 of query aligns to 517:717/1566 of 7w02A

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binding adenosine-5'-triphosphate: N533 (= N50), G534 (= G51), G536 (= G53), K537 (= K54), T538 (= T55), T539 (= T56), Q578 (≠ E97), L630 (= L148), S631 (= S149)
binding magnesium ion: T538 (= T55), Q578 (≠ E97)

Sites not aligning to the query:

binding adenosine-5'-triphosphate: 504, 1277, 1305, 1306, 1307, 1308, 1309, 1310, 1344, 1395, 1398
binding magnesium ion: 1310, 1344

7roqA Alternative structure of human abca1
31% identity, 82% coverage: 33:235/248 of query aligns to 789:989/1831 of 7roqA

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K

H

G

G

E

K

V

L

V

C

Y

C

S

V

G

G

D

S

S

S

Q

L

G

F

L

L

R

K

Sites not aligning to the query:

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

7z18I E. Coli c-p lyase bound to a phnk abc dimer and atp (see paper)
31% identity, 95% coverage: 14:248/248 of query aligns to 2:245/250 of 7z18I

query
sites
7z18I

P

P

L

L

I

L

D

S

A

V

R

N

G

N

L

L

H

T

T

H

Y

L

Y
|
Y

G

A

E

P

S

G

H

K

V

G

L

F

H

S

G

D

V

V

D

S

L

F

R

D

L

L

M

W

P

P

G

G

E

E

T

V

L

L

S

G

L

I

M

V

G

G

R

E

N
x
S

G
|
G

M
x
S

G
|
G

K
|
K

T
|
T

T

L

L

L

K

K

S

S

I

I

L

S

G

A

F

R

V

L

P

T

P

P

R

Q

E

Q

G

G

E

E

V

I

-

H

-

Y

-

E

-

N

-

R

S

S

I

L

K

Y

G

A

K

M

S

S

T

E

A

A

R

D

R

R

P

-

W

-

Q

R

L

L

I

L

R

R

Q

T

G

E

I

W

G

G

Y

V

V

V

P

H

E
x
Q

G

H

-

P

-

L

-

D

-

G

-

L

-

R

R

R

G

Q

I

V

F

S

P

A

G

G

I

G

S

N

V

I

R

G

E

E

H

R

L

L

I

-

M

M

A

A

A

T

R

G

P

A

N

R

E

H

R

Y

G

G

E

D

S

I

P

R

W

A

T

T

L

A

E

Q

R

K

V

W

L

L

D

E

T

E

F

V

P

E

R

I

L

P

G

A

Q

N

R
|
R

I

I

N

D

H

D

D

L

G

P

S

T

F
x
T

L

F

S
|
S

G

G

G
|
G

E
x
M

Q

Q

M

R

L

L

S

Q

I

I

G

A

R

R

A

N

L

L

T

V

T

T

N

H

P

P

D

K

M

L

V

V

I

F

L

M

D

D

E

E

A

P

T

T

E

G

G

G

L

L

A

D

P

V

L

S

I

V

R

Q

D

A

E

R

I

L

W

L

K

D

I

L

R

R

E

G

I

L

K

V

A

V

S

E

-

L

G

N

I

L

A

A

S

V

I

V

I

I

V

V

D

T

K
x
H

N

D

I

L

D

G

N

V

L

A

L

R

E

L

V

L

A

A

D

D

K

R

H

L

L

L

L

V

L

M

V

K

K

Q

G

G

E

Q

V

V

Y

E

S

S

G

G

D

L

S

T

Q

D

G

R

L

V

R

L

E

D

D

D

P

P

S

H

I

H

L

P

D

Y

T

T

H

Q

L

L

G

L

V

V

A

S

binding adenosine-5'-triphosphate: Y13 (= Y25), S38 (≠ N50), G39 (= G51), S40 (≠ M52), G41 (= G53), K42 (= K54), T43 (= T55), T44 (= T56), Q88 (≠ E97), R136 (= R140), T143 (≠ F147), S145 (= S149), G147 (= G151), M148 (≠ E152), H202 (≠ K205)
binding magnesium ion: T43 (= T55), Q88 (≠ E97)

7z15I E. Coli c-p lyase bound to a phnk/phnl dual abc dimer and adp + pi (see paper)
31% identity, 95% coverage: 14:248/248 of query aligns to 2:245/253 of 7z15I

query
sites
7z15I

P

P

L

L

I

L

D

S

A

V

R

N

G

N

L

L

H

T

T

H

Y

L

Y
|
Y

G

A

E

P

S

G

H
x
K

V
x
G

L

F

H

S

G

D

V

V

D

S

L

F

R

D

L

L

M

W

P

P

G

G

E

E

T

V

L

L

S

G

L

I

M

V

G

G

R

E

N
x
S

G
|
G

M

S

G
|
G

K
|
K

T
|
T

T

L

L

L

K

K

S

S

I

I

L

S

G

A

F

R

V

L

P

T

P

P

R

Q

E

Q

G

G

E

E

V

I

-

H

-

Y

-

E

-

N

-

R

S

S

I

L

K

Y

G

A

K

M

S

S

T

E

A

A

R

D

R

R

P

-

W

-

Q

R

L

L

I

L

R

R

Q

T

G

E

I

W

G

G

Y

V

V

V

P

H

E
x
Q

G

H

-

P

-

L

-

D

-

G

-

L

-

R

R

R

G

Q

I

V

F

S

P

A

G

G

I

G

S

N

V

I

R

G

E

E

H

R

L

L

I

-

M

M

A

A

A

T

R

G

P

A

N

R

E

H

R

Y

G

G

E

D

S

I

P

R

W

A

T

T

L

A

E

Q

R

K

V

W

L

L

D

E

T

E

F

V

P

E

R

I

L

P

G

A

Q

N

R
|
R

I

I

N

D

H

D

D

L

G

P

S

T

F
x
T

L

F

S
|
S

G

G

E
x
M

Q

Q

M

R

L

L

S

Q

I

I

G

A

R

R

A

N

L

L

T

V

T

T

N

H

P

P

D

K

M

L

V

V

I

F

L

M

D

D

E

E

A

P

T

T

E

G

G

G

L

L

A

D

P

V

L

S

I

V

R

Q

D

A

E

R

I

L

W

L

K

D

I

L

R

R

E

G

I

L

K

V

A

V

S

E

-

L

G

N

I

L

A

A

S

V

I

V

I

I

V

V

D

T

K

H

N

D

I

L

D

G

N

V

L

A

L

R

E

L

V

L

A

A

D

D

K

R

H

L

L

L

L

V

L

M

V

K

K

Q

G

G

E

Q

V

V

Y

E

S

S

G

G

D

L

S

T

Q

D

G

R

L

V

R

L

E

D

D

D

P

P

S

H

I

H

L

P

D

Y

T

T

H

Q

L

L

G

L

V

V

A

S

binding adenosine-5'-diphosphate: Y13 (= Y25), K17 (≠ H29), G18 (≠ V30), S38 (≠ N50), G39 (= G51), G41 (= G53), K42 (= K54), T43 (= T55), T44 (= T56), R136 (= R140), T143 (≠ F147), S145 (= S149), M148 (≠ E152)
binding magnesium ion: T43 (= T55), Q88 (≠ E97)

Query Sequence

>WP_086511549.1 NCBI__GCF_002151265.1:WP_086511549.1
MTNPRASASGASAPLIDARGLHTYYGESHVLHGVDLRLMPGETLSLMGRNGMGKTTTLKS
ILGFVPPREGEVSIKGKSTARRRPWQLIRQGIGYVPEGRGIFPGISVREHLIMAARPNER
GESPWTLERVLDTFPRLGQRINHDGSFLSGGEQQMLSIGRALTTNPDMVILDEATEGLAP
LIRDEIWKIIREIKASGIASIIVDKNIDNLLEVADKHLLLVKGEVVYSGDSQGLREDPSI
LDTHLGVA

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