SitesBLAST

4yerA Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution
29% identity, 93% coverage: 1:215/230 of query aligns to 1:219/285 of 4yerA

query
sites
4yerA

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binding adenosine-5'-diphosphate: F14 (≠ Y14), F17 (≠ S17), N39 (= N39), G40 (= G40), G42 (= G42), K43 (= K43), T44 (≠ S44), T45 (= T45), T135 (≠ S131), F136 (≠ L132), S137 (= S133)

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, 84% coverage: 23:215/230 of query aligns to 949:1143/2281 of F1MWM0

query
sites
F1MWM0

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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

6mjpA Lptb(e163q)fgc from vibrio cholerae (see paper)
29% identity, 98% coverage: 4:229/230 of query aligns to 2:235/240 of 6mjpA

query
sites
6mjpA

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binding calcium ion: E111 (≠ M111), D115 (≠ G115)

6s8nB Cryo-em structure of lptb2fgc in complex with lipopolysaccharide (see paper)
31% identity, 97% coverage: 8:229/230 of query aligns to 6:235/238 of 6s8nB

query
sites
6s8nB

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binding 2-decyl-5,6-dimethoxy-3-methylcyclohexa-2,5-diene-1,4-dione: R90 (≠ A92), M133 (≠ V128), G134 (≠ A129), Q135 (≠ R130)

6s8gA Cryo-em structure of lptb2fgc in complex with amp-pnp (see paper)
31% identity, 97% coverage: 8:229/230 of query aligns to 6:235/238 of 6s8gA

query
sites
6s8gA

E

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binding phosphoaminophosphonic acid-adenylate ester: Y12 (= Y14), R15 (≠ S17), N37 (= N39), G40 (= G42), K41 (= K43), T42 (≠ S44), T43 (= T45), Q84 (≠ E86), S136 (= S131), S138 (= S133), E141 (= E136)

7m1qA Human abca4 structure in complex with n-ret-pe (see paper)
31% identity, 88% coverage: 14:215/230 of query aligns to 816:1019/1911 of 7m1qA

query
sites
7m1qA

Y

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L

L

T

T

V

V

A

A

E

E

N

H

L

M

L

L

A

F

A

Y

A

A

R

Q

P

L

G

K

P

G

W

K

D

S

M

Q

A

E

R

E

V

A

G

Q

A

L

L

E

F

M

P

E

R

A

L

M

A

L

E

E

-

D

-

T

-

G

-

L

-

H

R

K

R

R

D

N

Q

E

V

E

A

A

R

Q

S

D

L

L

S

S

G

G

E

M

Q

Q

Q

R

M

K

L

L

A

S

I

V

G

A

R

I

A

A

L

F

M

V

T

G

N

D

P

A

R

K

L

V

V

I

L

L

D

D

E

E

A

P

T

T

E

S

G

G

L

V

A

D

P

P

V

Y

V

S

R

R

Q

R

E

S

I

I

W

W

A

D

A

L

I

L

A

L

R

K

L

Y

R

R

A

S

E

-

G

-

G

G

L

R

S

T

L

I

I

I

L

M

V

S

D

T

K

H

S

H

L

M

R

D

E

E

L

A

R

D

Q

L

V

L

A

G

D

D

T

R

A

I

V

A

I

I

L

I

A

A

R

Q

G

G

R

R

T

L

V

Y

W

C

S

S

G

G

S

T

Sites not aligning to the query:

6mhzA Vanadate trapped cryo-em structure of e.Coli lptb2fg transporter (see paper)
31% identity, 97% coverage: 8:229/230 of query aligns to 6:235/235 of 6mhzA

query
sites
6mhzA

E

K

G

N

V

L

T

A

A

K

A

A

Y
|
Y

G

K

A

G

S

R

Q

R

A

V

L

V

F

E

G

D

V

V

D

S

L

L

T

T

L

V

K

N

E

S

G

G

G

E

A

I

L

V

A

G

L

L

M

L

G

G

R

P

N
|
N

G
|
G

M

A

G
|
G

K
|
K

S
x
T

T
|
T

T

T

L

F

K

Y

T

M

L

V

C

V

G

G

L

I

L

V

P

P

P

R

T

D

G

A

G

G

R

N

V

I

R

I

L

I

A

D

G

D

V

D

E

D

I

I

T

S

G

L

R

L

P

P

A

L

H

H

R

A

I

R

A

A

R

R

L

R

G

G

V

I

G

G

L

Y

V

L

P

P

E
x
Q

G

E

R

A

R

S

C

I

F

F

A

R

P

R

L

L

T

S

V

V

A

Y

E

D

N

N

L

L

L

M

A

A

A

V

A

L

R

Q

-

I

-

R

-

D

-

L

P

S

G

A

P

E

W

Q

D

R

M

E

A

D

R

R

V

A

G

N

A

E

L

L

F

M

P

E

-

E

-

F

R

H

L

I

A

E

E

H

R

L

R

R

D

D

Q

S

V

M

A

G

R

Q

S
|
S

L

L

S
|
S

G
|
G

E

E

Q

R

M

R

L

V

A

E

I

I

G

A

R

R

A

A

L

L

M

A

T

A

N

N

P

P

R

K

L

F

L

I

V

L

L

L

D

D

E
|
E

A

P

T

F

E

A

G
|
G

L

V

A

D

P

P

V

I

V

S

R

V

Q

I

E

D

I

I

W

K

A

R

A

I

I

I

A

E

R

H

L

L

R

R

A

-

E

D

G

S

G

G

L

L

S

G

L

V

I

L

L

I

V

T

D

D

K
x
H

S

N

L

V

R

R

E

E

L

T

R

L

Q

A

V

V

A

C

D

E

T

R

A

A

V

Y

I

I

L

V

A

S

R

Q

G

G

R

H

T

L

V

I

W

A

S

H

G

G

S

T

-

P

I

T

D

E

A

I

L

L

G

Q

A

D

E

E

Q

H

T

V

N

K

R

R

-

V

W

Y

L

L

G

G

binding adp orthovanadate: Y12 (= Y14), N37 (= N39), G38 (= G40), G40 (= G42), K41 (= K43), T42 (≠ S44), T43 (= T45), Q84 (≠ E86), S136 (= S131), S138 (= S133), G139 (= G134), G140 (= G135), E162 (= E157), G166 (= G161), H194 (≠ K190)

1g6hA Crystal structure of the adp conformation of mj1267, an atp-binding cassette of an abc transporter (see paper)
27% identity, 92% coverage: 4:214/230 of query aligns to 4:232/254 of 1g6hA

query
sites
1g6hA

L

I

V

L

Q

R

I

T

E

E

G

N

V

I

T

V

A

K

A

Y

Y
x
F

G

G

A

E

S
x
F

Q

K

A

A

L

L

F

D

G

G

V

V

D

S

L

I

T

S

L

V

K

N

E

K

G

G

G

D

A

V

L

T

A

L

L

I

M

I

G

G

R

P

N
|
N

G
|
G

M

S

G
|
G

K
|
K

S
|
S

T
|
T

T

L

L

I

K

N

T

V

L

I

C

T

G

G

L

F

L

L

P

K

P

A

T

D

G

E

G

G

R

R

V

V

R

Y

L

F

A

E

G

N

V

K

E

D

I

I

T

T

G

N

R

K

P

E

A

P

H

A

R

E

I

L

A

Y

R

H

L

Y

G

G

V

I

G

V

L

R

V

T

P

F

E

Q

G

T

R

P

R

Q

C

P

F

L

A

K

P

E

L

M

T

T

V

V

A

L

E

E

N

N

L

L

A

I

A

G

A

E

R

I

-

C

P

P

G

G

-

E

-

S

-

P

-

L

-

N

-

S

-

L

-

F

-

Y

-

K

-

W

-

I

P

P

W

K

D

E

M

E

A

E

R

M

V

V

G

E

A

K

L

A

F

F

P

K

-

I

-

L

-

E

-

F

-

L

R

K

L

L

A

S

E

H

R

L

R

Y

D

D

Q

R

V

K

A

A

R

G

S

E

L

L

S

S

G

G

E

Q

Q

M

Q

K

M

L

L

V

A

E

I

I

G

G

R

R

A

A

L

L

M

M

T

T

N

N

P

P

R

K

L

M

L

I

V

V

L

M

D

D

E

E

A

P

T

I

E

A

G

G

L

V

A

A

P

P

V

G

V

L

R

A

Q

H

E

D

I

I

W

F

A

N

A

H

I

V

A

L

R

E

L

L

R

K

A

A

E

K

G

-

G

G

L

I

S

T

L

F

I

L

L

I

V

I

D

E

K

H

S

R

L

L

R

D

E

I

L

V

R

L

Q

N

V

Y

A

I

D

D

T

H

A

L

V

Y

I

V

L

M

A

F

R

N

G

G

R

Q

T

I

V

I

W

A

S

E

G

G

binding adenosine-5'-diphosphate: F14 (≠ Y14), F17 (≠ S17), N39 (= N39), G40 (= G40), G42 (= G42), K43 (= K43), S44 (= S44), T45 (= T45)

1g9xB Characterization of the twinning structure of mj1267, an atp-binding cassette of an abc transporter (see paper)
27% identity, 92% coverage: 4:214/230 of query aligns to 4:232/253 of 1g9xB

query
sites
1g9xB

L

I

V

L

Q

R

I

T

E

E

G

N

V

I

T

V

A

K

A

Y

Y
x
F

G

G

A

E

S
x
F

Q

K

A

A

L

L

F

D

G

G

V

V

D

S

L

I

T

S

L

V

K

C

E

K

G

G

G

D

A

V

L

T

A

L

L

I

M

I

G

G

R

P

N

N

G
|
G

M
x
S

G
|
G

K
|
K

S
|
S

T
|
T

T

L

L

I

K

N

T

V

L

I

C

T

G

G

L

F

L

L

P

K

P

A

T

D

G

E

G

G

R

R

V

V

R

Y

L

F

A

E

G

N

V

K

E

D

I

I

T

T

G

N

R

K

P

E

A

P

H

A

R

E

I

L

A

Y

R

H

L

Y

G

G

V

I

G

V

L

R

V

T

P

F

E

Q

G

T

R

P

R

Q

C

P

F

L

A

K

P

E

L

M

T

T

V

V

A

L

E

E

N

N

L

L

A

I

A

G

A

E

-

I

R

N

P

P

G

G

-

E

-

S

-

P

-

L

-

N

-

S

-

L

-

F

-

Y

-

K

-

W

-

I

P

P

W

K

D

E

M

E

A

E

R

M

V

V

G

E

A

K

L

A

F

F

P

K

-

I

-

L

-

E

-

F

-

L

R

K

L

L

A

S

E

H

R

L

R

Y

D

D

Q

R

V

K

A

A

R

G

S

E

L

L

S

S

G

G

E

Q

Q

M

Q

K

M

L

L

V

A

E

I

I

G

G

R

R

A

A

L

L

M

M

T

T

N

N

P

P

R

K

L

M

L

I

V

V

L

M

D

D

E
|
E

A

P

T

I

E

A

G

G

L

V

A

A

P

P

V

G

V

L

R

A

Q

H

E

D

I

I

W

F

A

N

A

H

I

V

A

L

R

E

L

L

R

K

A

A

E

K

G

-

G

G

L

I

S

T

L

F

I

L

L

I

V

I

D

E

K

H

S

R

L

L

R

D

E

I

L

V

R

L

Q

N

V

Y

A

I

D

D

T

H

A

L

V

Y

I

V

L

M

A

F

R

N

G

G

R

Q

T

I

V

I

W

A

S

E

G

G

binding adenosine-5'-diphosphate: F14 (≠ Y14), F17 (≠ S17), G40 (= G40), S41 (≠ M41), G42 (= G42), K43 (= K43), S44 (= S44), T45 (= T45)
binding magnesium ion: S44 (= S44), E176 (= E157)

6b8bA E. Coli lptb in complex with adp and a novobiocin derivative (see paper)
30% identity, 95% coverage: 8:226/230 of query aligns to 6:231/233 of 6b8bA

query
sites
6b8bA

E

K

G

N

V

L

T

A

A

K

A

A

Y
|
Y

G

K

A

G

S
x
R

Q

R

A
x
V

L

V

F

E

G

D

V

V

D

S

L

L

T

T

L

V

K

N

E

S

G

G

G

E

A

I

L

V

A

G

L

L

M

L

G

G

R

P

N

N

G
|
G

M

A

G
|
G

K
|
K

S
x
T

T
|
T

T

T

L

F

K

Y

T

M

L

V

C

V

G

G

L

I

L

V

P

P

P

R

T

D

G

A

G

G

R

N

V

I

R

I

L

I

A

D

G

D

V

D

E

D

I

I

T

S

G

L

R

L

P

P

A

L

H

H

R

A

I

R

A

A

R

R

L

R

G

G

V

I

G

G

L

Y

V

L

P

P

E

Q

G

E

R

A

R

S

C

I

F
|
F

A
x
R

P
x
R

L

L

T

S

V

V

A

Y

E

D

N

N

L

L

L

M

A

A

A

V

A

L

R

Q

-

I

-

R

-

D

-

L

P

S

G

A

P

E

W

Q

D

R

M

E

A

D

R

R

V

A

G

N

A

E

L

L

F

M

P

E

-

E

-

F

R

H

L

I

A

E

E

H

R

L

R

R

D

D

Q

S

V

M

A

G

R

Q

S

S

L

L

S

S

G

G

E

E

Q

R

M

R

L

V

A

E

I

I

G

A

R

R

A

A

L

L

M

A

T

A

N

N

P

P

R

K

L

F

L

I

V

L

L

L

D

D

E

E

A

P

T

F

E

A

G

G

L

V

A

D

P

P

V

I

V

S

R

V

Q

I

E

D

I

I

W

K

A

R

A

I

I

I

A

E

R

H

L

L

R

R

A

-

E

D

G

S

G

G

L

L

S

G

L

V

I

L

L

I

V

T

D

D

K

H

S

N

L

V

R

R

E

E

L

T

R

L

Q

A

V

V

A

C

D

E

T

R

A

A

V

Y

I

I

L

V

A

S

R

Q

G

G

R

H

T

L

V

I

W

A

S

H

G

G

S

T

-

P

I

T

D

E

A

I

L

L

G

Q

A

D

E

E

Q

H

T

V

N

K

R

R

binding adenosine-5'-diphosphate: Y12 (= Y14), R15 (≠ S17), V17 (≠ A19), G38 (= G40), G40 (= G42), K41 (= K43), T42 (≠ S44), T43 (= T45)
binding (3s,5s,7s)-N-{7-[(3-O-carbamoyl-6-deoxy-5-methyl-4-O-methyl-beta-D-gulopyranosyl)oxy]-4-hydroxy-8-methyl-2-oxo-2H-1-benzopyran-3-yl}tricyclo[3.3.1.1~3,7~]decane-1-carboxamide: F89 (= F91), R90 (≠ A92), R91 (≠ P93)

6b89A E. Coli lptb in complex with adp and novobiocin (see paper)
30% identity, 95% coverage: 8:226/230 of query aligns to 6:231/234 of 6b89A

query
sites
6b89A

E

K

G

N

V

L

T

A

A

K

A

A

Y
|
Y

G

K

A

G

S
x
R

Q

R

A
x
V

L

V

F

E

G

D

V

V

D

S

L

L

T

T

L

V

K

N

E

S

G

G

G

E

A

I

L

V

A

G

L

L

M

L

G

G

R

P

N
|
N

G
|
G

M

A

G
|
G

K
|
K

S
x
T

T
|
T

T

T

L

F

K

Y

T

M

L

V

C

V

G

G

L

I

L

V

P

P

P

R

T

D

G

A

G

G

R

N

V

I

R

I

L

I

A

D

G

D

V

D

E

D

I

I

T

S

G

L

R

L

P

P

A
x
L

H
|
H

R

A

I

R

A

A

R

R

L

R

G

G

V

I

G

G

L

Y

V

L

P
|
P

E
x
Q

G

E

R
x
A

R
x
S

C

I

F
|
F

A
x
R

P
x
R

L
|
L

T

S

V

V

A

Y

E

D

N

N

L

L

L

M

A

A

A
x
V

A

L

R

Q

-

I

-

R

-

D

-

L

P

S

G

A

P

E

W

Q

D

R

M

E

A

D

R

R

V

A

G

N

A

E

L

L

F

M

P

E

-

E

-

F

R

H

L

I

A

E

E

H

R

L

R

R

D

D

Q

S

V

M

A

G

R
x
Q

S

S

L

L

S

S

G

G

E

E

Q

R

M

R

L

V

A

E

I

I

G

A

R
|
R

A

A

L

L

M

A

T

A

N

N

P

P

R

K

L

F

L

I

V

L

L

L

D

D

E

E

A

P

T

F

E

A

G

G

L

V

A

D

P

P

V

I

V

S

R

V

Q

I

E

D

I

I

W

K

A

R

A

I

I

I

A

E

R

H

L

L

R

R

A

-

E

D

G

S

G

G

L

L

S

G

L

V

I

L

L

I

V

T

D

D

K

H

S

N

L

V

R

R

E

E

L

T

R

L

Q

A

V

V

A

C

D

E

T

R

A

A

V

Y

I

I

L

V

A

S

R

Q

G

G

R

H

T

L

V

I

W

A

S

H

G

G

S

T

-

P

I

T

D

E

A

I

L

L

G

Q

A

D

E

E

Q

H

T

V

N

K

R

R

binding adenosine-5'-diphosphate: Y12 (= Y14), R15 (≠ S17), V17 (≠ A19), N37 (= N39), G38 (= G40), G40 (= G42), K41 (= K43), T42 (≠ S44), T43 (= T45)
binding magnesium ion: T42 (≠ S44), Q84 (≠ E86)
binding novobiocin: L71 (≠ A73), H72 (= H74), P83 (= P85), A86 (≠ R88), S87 (≠ R89), F89 (= F91), R90 (≠ A92), R91 (≠ P93), L92 (= L94), V101 (≠ A103), Q135 (≠ R130), R149 (= R144)

4p31A Crystal structure of a selenomethionine derivative of e. Coli lptb in complex with adp-magensium (see paper)
30% identity, 95% coverage: 8:226/230 of query aligns to 6:231/234 of 4p31A

query
sites
4p31A

E

K

G

N

V

L

T

A

A

K

A

A

Y
|
Y

G

K

A

G

S
x
R

Q

R

A
x
V

L

V

F

E

G

D

V

V

D

S

L

L

T

T

L

V

K

N

E

S

G

G

G

E

A

I

L

V

A

G

L

L

M

L

G

G

R

P

N

N

G
|
G

M

A

G
|
G

K
|
K

S
x
T

T
|
T

T

T

L

F

K

Y

T

M

L

V

C

V

G

G

L

I

L

V

P

P

P

R

T

D

G

A

G

G

R

N

V

I

R

I

L

I

A

D

G

D

V

D

E

D

I

I

T

S

G

L

R

L

P

P

A

L

H

H

R

A

I

R

A

A

R

R

L

R

G

G

V

I

G

G

L

Y

V

L

P

P

E
x
Q

G

E

R

A

R

S

C

I

F

F

A

R

P

R

L

L

T

S

V

V

A

Y

E

D

N

N

L

L

L

M

A

A

A

V

A

L

R

Q

-

I

-

R

-

D

-

L

P

S

G

A

P

E

W

Q

D

R

M

E

A

D

R

R

V

A

G

N

A

E

L

L

F

M

P

E

-

E

-

F

R

H

L

I

A

E

E

H

R

L

R

R

D

D

Q

S

V

M

A

G

R

Q

S

S

L

L

S

S

G

G

E

E

Q

R

M

R

L

V

A

E

I

I

G

A

R

R

A

A

L

L

M

A

T

A

N

N

P

P

R

K

L

F

L

I

V

L

L

L

D

D

E

E

A

P

T

F

E

A

G

G

L

V

A

D

P

P

V

I

V

S

R

V

Q

I

E

D

I

I

W

K

A

R

A

I

I

I

A

E

R

H

L

L

R

R

A

-

E

D

G

S

G

G

L

L

S

G

L

V

I

L

L

I

V

T

D

D

K

H

S

N

L

V

R

R

E

E

L

T

R

L

Q

A

V

V

A

C

D

E

T

R

A

A

V

Y

I

I

L

V

A

S

R

Q

G

G

R

H

T

L

V

I

W

A

S

H

G

G

S

T

-

P

I

T

D

E

A

I

L

L

G

Q

A

D

E

E

Q

H

T

V

N

K

R

R

binding adenosine-5'-diphosphate: Y12 (= Y14), R15 (≠ S17), V17 (≠ A19), G38 (= G40), G40 (= G42), K41 (= K43), T42 (≠ S44), T43 (= T45)
binding magnesium ion: T42 (≠ S44), Q84 (≠ E86)

6mbnA Lptb e163q in complex with atp (see paper)
30% identity, 97% coverage: 8:229/230 of query aligns to 7:236/241 of 6mbnA

query
sites
6mbnA

E

K

G

N

V

L

T

A

A

K

A

A

Y
|
Y

G

K

A

G

S
x
R

Q

R

A
x
V

L

V

F

E

G

D

V

V

D

S

L

L

T

T

L

V

K

N

E

S

G

G

G

E

A

I

L

V

A

G

L

L

M

L

G

G

R

P

N
|
N

G
|
G

M

A

G
|
G

K
|
K

S
x
T

T
|
T

T

T

L

F

K

Y

T

M

L

V

C

V

G

G

L

I

L

V

P

P

P

R

T

D

G

A

G

G

R

N

V

I

R

I

L

I

A

D

G

D

V

D

E

D

I

I

T

S

G

L

R

L

P

P

A

L

H

H

R

A

I

R

A

A

R

R

L

R

G

G

V

I

G

G

L

Y

V

L

P

P

E

Q

G

E

R

A

R

S

C

I

F

F

A

R

P

R

L

L

T

S

V

V

A

Y

E

D

N

N

L

L

L

M

A

A

A

V

A

L

R

Q

-

I

-

R

-

D

-

L

P

S

G

A

P

E

W

Q

D

R

M

E

A

D

R

R

V

A

G

N

A

E

L

L

F

M

P

E

-

E

-

F

R

H

L

I

A

E

E

H

R

L

R

R

D

D

Q

S

V

M

A

G

R

Q

S

S

L

L

S

S

G

G

E

E

Q

R

M

R

L

V

A

E

I

I

G

A

R

R

A

A

L

L

M

A

T

A

N

N

P

P

R

K

L

F

L

I

V

L

L

L

D

D

E

Q

A

P

T

F

E

A

G

G

L

V

A

D

P

P

V

I

V

S

R

V

Q

I

E

D

I

I

W

K

A

R

A

I

I

I

A

E

R

H

L

L

R

R

A

-

E

D

G

S

G

G

L

L

S

G

L

V

I

L

L

I

V

T

D

D

K
x
H

S

N

L

V

R

R

E

E

L

T

R

L

Q

A

V

V

A

C

D

E

T

R

A

A

V

Y

I

I

L

V

A

S

R

Q

G

G

R

H

T

L

V

I

W

A

S

H

G

G

S

T

-

P

I

T

D

E

A

I

L

L

G

Q

A

D

E

E

Q

H

T

V

N

K

R

R

-

V

W

Y

L

L

G

G

binding adenosine-5'-triphosphate: Y13 (= Y14), R16 (≠ S17), V18 (≠ A19), N38 (= N39), G39 (= G40), G41 (= G42), K42 (= K43), T43 (≠ S44), T44 (= T45), H195 (≠ K190)

8f5bA Human abca4 structure in complex with amp-pnp
32% identity, 84% coverage: 23:215/230 of query aligns to 741:935/1924 of 8f5bA

query
sites
8f5bA

V

L

D

N

L

I

T

T

L

F

K

Y

E

E

G

N

G

Q

A

I

L

T

A

A

L

F

M

L

G

G

R

H

N
|
N

G
|
G

M

A

G
|
G

K
|
K

S
x
T

T
|
T

T

T

L

L

K

S

T

I

L

L

C

T

G

G

L

L

P

P

T

T

G

S

G

G

R

T

V

V

R

L

L

V

A

G

G

G

V

R

E

D

I

I

T

-

G

-

R

E

P

T

A

S

H

L

R

D

I

A

A

V

R

R

L

Q

G

S

V

L

G

G

L

M

V

C

P

P

E
x
Q

G

H

R

N

R

I

C

L

F

F

A

H

P

H

L

L

T

T

V

V

A

A

E

E

N

H

L

M

L

L

A

F

A

Y

A

A

R

Q

P

L

G

K

P

G

W

K

D

S

M

Q

A

E

R

E

V

A

G

Q

A

L

L

E

F

M

P

E

R

A

L

M

A

L

E

E

-

D

-

T

-

G

-

L

-

H

R

K

R

R

D

N

Q

E

V

E

A

A

R

Q

S
x
D

L

L

S

S

G

G

E

M

Q

Q

Q

R

M

K

L

L

A

S

I

V

G

A

R

I

A

A

L

F

M

V

T

G

N

D

P

A

R

K

L

V

V

I

L

L

D

D

E

E

A

P

T

T

E

S

G

G

L

V

A

D

P

P

V

Y

V

S

R

R

Q

R

E

S

I

I

W

W

A

D

A

L

I

L

A

L

R

K

L

Y

R

R

A

S

E

-

G

-

G

G

L

R

S

T

L

I

I

I

L

M

V

S

D

T

K

H

S

H

L

M

R

D

E

E

L

A

R

D

Q

L

V

L

A

G

D

D

T

R

A

I

V

A

I

I

L

I

A

A

R

Q

G

G

R

R

T

L

V

Y

W

C

S

S

G

G

S

T

binding phosphoaminophosphonic acid-adenylate ester: N757 (= N39), G758 (= G40), G760 (= G42), K761 (= K43), T762 (≠ S44), T763 (= T45), Q802 (≠ E86), D853 (≠ S131)
binding magnesium ion: T762 (≠ S44), Q802 (≠ E86)

Sites not aligning to the query:

binding phosphoaminophosphonic acid-adenylate ester: 1652, 1653, 1654, 1655, 1656, 1657, 1697, 1748, 1750
binding magnesium ion: 1657, 1697

7lkpA Structure of atp-free human abca4 (see paper)
32% identity, 84% coverage: 23:215/230 of query aligns to 752:946/1941 of 7lkpA

query
sites
7lkpA

V

L

D

N

L

I

T

T

L

F

K

Y

E

E

G

N

G

Q

A

I

L

T

A

A

L

F

M

L

G

G

R

H

N

N

G

G

M

A

G

G

K

K

S

T

T

T

L

L

K

S

T

I

L

L

C

T

G

G

L

L

P

P

T

T

G

S

G

G

R

T

V

V

R

L

L

V

A

G

G

G

V

R

E

D

I

I

T

-

G

-

R

E

P

T

A

S

H

L

R

D

I

A

A

V

R

R

L

Q

G

S

V

L

G

G

L

M

V

C

P

P

E

Q

G

H

R

N

R

I

C

L

F

F

A
x
H

P

H

L

L

T

T

V

V

A

A

E

E

N

H

L

M

L

L

A

F

A

Y

A

A

R

Q

P

L

G

K

P

G

W

K

D

S

M

Q

A

E

R

E

V

A

G

Q

A

L

L

E

F

M

P

E

R

A

L

M

A

L

E

E

-

D

-

T

-

G

-

L

-

H

R

K

R

R

D

N

Q

E

V

E

A

A

R
x
Q

S

D

L

L

S

S

G

G

E

M

Q

Q

Q

R

M

K

L

L

A

S

I

V

G

A

R

I

A

A

L

F

M

V

T

G

N

D

P

A

R

K

L

V

V

I

L

L

D

D

E

E

A

P

T

T

E

S

G

G

L

V

A

D

P

P

V

Y

V

S

R

R

Q

R

E

S

I

I

W

W

A

D

A

L

I

L

A

L

R

K

L

Y

R

R

A

S

E

-

G

-

G

G

L

R

S

T

L

I

I

I

L

M

V

S

D

T

K

H

S

H

L

M

R

D

E

E

L

A

R

D

Q

L

V

L

A

G

D

D

T

R

A

I

V

A

I

I

L

I

A

A

R

Q

G

G

R

R

T

L

V

Y

W

C

S

S

G

G

S

T

binding Digitonin: H819 (≠ A92), Q863 (≠ R130)

Sites not aligning to the query:

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

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, 84% coverage: 23:215/230 of query aligns to 552:746/1704 of Q99758

query
sites
Q99758

V

L

D

N

L

L

T

N

L

L

K

Y

E

E

G

G

G

Q

A

I

L

T

A

V

L

L

M

L

G

G

R

H

N
|
N

G

G

M

A

G

G

K

K

S

T

T

T

L

L

K

S

T

M

L
|
L

C

T

G

G

L

L

L

F

P

P

T

T

G

S

G

G

R

R

V

A

R

Y

L

I

A

S

G

G

V

Y

E

E

I

I

T

S

G

Q

R

D

P

M

A

V

H

Q

R

-

I

-

A

I

R
|
R

L

K

G

S

V

L

G

G

L

L

V

C

P

P

E

Q

G

H

R

D

R

I

C

L

F

F

A

D

P

N

L

L

T

T

V

V

A

A

E

E

N

H

L

L

L

Y

A

F

A

Y

A

A

-

Q

-

L

-

K

-

G

-

L

-

S

-

R

R

Q

P

K

G

C

P

P

W

E

D

E

M

V

A

K

R

Q

V

M

G

L

A

H

L

I

F

I

P

-

R

G

L

L

A

E

E

D

R

K

R

W

D

N

Q

S

V

R

A

S

R

R

S

F

L

L

S

S

G

G

E

M

Q

R

M

K

L

L

A

S

I

I

G

G

R

I

A

A

L

L

M

I

T

A

N

G

P

S

R

K

L

V

L

L

V

I

L

L

D

D

E

E

A

P

T

T

E
x
S

G

G

L

M

A

D

P

A

V

I

V

S

R

R

Q

R

E

A

I

I

W

W

A

D

A

L

I

L

A

Q

R

R

L

Q

R

K

A

S

E

D

G

R

G

-

L

-

S

T

L

I

I

V

L

L

V

T

D

T

K

H

S

F

L

M

R

D

E

E

L

A

R

D

Q

L

V

L

A

G

D

D

T

R

A

I

V

A

I

I

L

M

A

A

R

K

G

G

R

E

T

L

V

Q

W

C

S

C

G

G

S

S

N568 (= N39) 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 (= L50) to P: in SMDP3; uncertain significance
R605 (= R78) to Q: in SMDP3; uncertain significance; dbSNP:rs760006956
S693 (≠ E160) 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

7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
32% identity, 84% coverage: 23:215/230 of query aligns to 828:1022/2003 of 7e7oA

query
sites
7e7oA

V

L

D

N

L

I

T

T

L

F

K

Y

E

E

G

N

G

Q

A

I

L

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A

A

L

F

M

L

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G

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N

N

G

G

M

A

G

G

K

K

S

T

T

T

L

L

K

S

T

I

L

L

C

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G

L

L

P

P

T

T

G

S

G

G

R

T

V

V

R

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L

V

A

G

G

G

V

R

E

D

I

I

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-

G

-

R

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A

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R

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C

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F

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T

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V

A

A

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E

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A

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A

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A

A

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K

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A

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V

A

G

Q

A

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L

E

F

M

P

E

R

A

L

M

A

L

E

E

-

D

-

T

-

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-

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-

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R

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N

Q

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E

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A

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S

S

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Q

Q

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A

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A

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M

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V

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E

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I

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W

A

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A

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I

L

A

L

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K

L

Y

R

R

A

S

E

-

G

-

G

G

L

R

S

T

L

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I

I

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V

S

D

T

K

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S

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E

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A

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G

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S

S

G

G

S

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, 589, 592, 1454

P69874 Spermidine/putrescine import ATP-binding protein PotA; EC 7.6.2.11 from Escherichia coli (strain K12) (see 3 papers)
30% identity, 100% coverage: 1:229/230 of query aligns to 14:245/378 of P69874

query
sites
P69874

M

L

S

S

P

P

L

L

V

V

Q

Q

I

L

E

A

G

G

V

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x
F

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C

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L

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L

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N

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A

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P

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x
V

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D

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R

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V

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V

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M

A

S

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A

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N

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A

C26 (≠ A13) mutation to A: Lower ATPase activity and transport efficiency.
F27 (≠ Y14) mutation to L: Lower ATPase activity and transport efficiency.
F45 (≠ A32) mutation to L: Lower ATPase activity and transport efficiency.
C54 (≠ M41) mutation to T: Loss of ATPase activity and transport.
L60 (= L47) mutation to F: Lower ATPase activity and transport efficiency.
L76 (= L63) mutation to P: Lower ATPase activity and transport efficiency.
V135 (≠ D126) mutation to M: Loss of ATPase activity and transport.
D172 (= D156) mutation to N: Loss of ATPase activity and transport.

Sites not aligning to the query:

276 C→A: Lower ATPase activity and transport efficiency.
297 mutation E->K,D: Lower ATPase activity and transport efficiency.; E→Q: Loss of ATPase activity and transport.

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)
32% identity, 84% coverage: 23:215/230 of query aligns to 949:1143/2273 of P78363

query
sites
P78363

V
x
L

D
x
N

L
x
I

T
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T

L
x
F

K
x
Y

E
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E

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A

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T

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R

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E

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x
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R

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-

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T

Y954 (≠ K28) to D: in STGD1; uncertain significance; dbSNP:rs61749447
T959 (≠ L33) to I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
963:970 (vs. 37:44, 63% identical) binding
N965 (= N39) to 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; to Y: in STGD1; uncertain significance
G966 (= G40) mutation to D: Abolishes basal and retinal-stimulated ATP hydrolysis.
K969 (= K43) mutation to M: Abolishes basal and retinal-stimulated ATP hydrolysis.; mutation to 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.
T970 (≠ S44) to P: in STGD1; uncertain significance; dbSNP:rs1570377849
T971 (= T45) to N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
T972 (= T46) to N: in STGD1; uncertain significance; dbSNP:rs61749451
L973 (= L47) to S: in STGD1; uncertain significance
T977 (≠ C51) to P: in STGD1; uncertain significance
G978 (= G52) to D: in STGD1; uncertain significance; dbSNP:rs61749453
G991 (= G65) to R: in FFM and STGD1; dbSNP:rs61749455
E1022 (= E98) to G: in STGD1; uncertain significance; to K: in STGD1; uncertain significance; dbSNP:rs61749459
A1038 (≠ V114) to 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
G1050 (vs. gap) to D: in STGD1; uncertain significance; dbSNP:rs61750062
K1054 (≠ R124) binding
S1071 (≠ A141) to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
I1074 (≠ R144) to L: in STGD1; uncertain significance
G1078 (≠ T148) to E: in STGD1; uncertain significance
E1087 (= E157) mutation to Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
G1091 (= G161) to 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
P1094 (= P164) to T: in STGD1; uncertain significance
R1097 (= R167) to S: in STGD1; uncertain significance
R1098 (≠ Q168) to C: in STGD1; uncertain significance; dbSNP:rs756840095
S1099 (≠ E169) to P: in STGD1; uncertain significance; dbSNP:rs61750119
D1102 (≠ A172) to Y: in dbSNP:rs138641544
R1108 (= R178) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
E1122 (= E194) to K: in STGD1 and CORD3; dbSNP:rs61751399
R1129 (≠ T201) to C: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs779426136; to L: in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity; dbSNP:rs1801269
I1130 (≠ A202) to T: in STGD1; uncertain significance; dbSNP:rs1064793010
C1140 (≠ W212) to W: in STGD1; uncertain significance

Sites not aligning to the query:

14 N → K: in STGD1; uncertain significance
18 R → P: in STGD1; uncertain significance
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
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
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
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
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
418 F → S: in STGD1; uncertain significance; dbSNP:rs794726979
423 H → R: in dbSNP:rs3112831
424 V → A: in STGD1 and RP19; uncertain significance
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
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
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
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
1029:2273 natural variant: Missing (in STGD1; uncertain significance)
1099:2273 natural variant: Missing (in STGD1; uncertain significance)
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
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
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; 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 natural variant: E -> D
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
1940 L → P: in STGD1 and FFM; dbSNP:rs61753033
1942 E → Q: in STGD1; uncertain significance; dbSNP:rs760353830
1948 P → L: in dbSNP:rs56142141; natural variant: P -> S
1961 G → 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; G → R: in STGD1; uncertain significance; dbSNP:rs142253670
1970 L → F: in ARMD2, FFM and STGD1; also found in a patient with cone dystrophy; dbSNP:rs28938473
1971 L → R: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis; dbSNP:rs61753034
1972:1980 binding
1975 G→D: Inhibition of retinal-stimulated ATP hydrolysis.
1977 G → S: in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750639
1978 K→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.
2017 C → Y: in STGD1; uncertain significance
2023 I → T: in STGD1; uncertain significance; dbSNP:rs150633517
2027 L → F: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; highly reduced ATP-binding capacity; dbSNP:rs61751408
2030 R → Q: in STGD1 and FFM; dbSNP:rs61750641
2030:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61751383)
2032 H → R: in STGD1; uncertain significance; dbSNP:rs1242866408
2033 L → R: in STGD1; uncertain significance; dbSNP:rs1553186896
2038 R → W: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs61750643
2040 R → Q: in STGD1; uncertain significance; dbSNP:rs148460146
2040:2273 natural variant: Missing (in STGD1; uncertain significance; also found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs61753038)
2042 V → G: in STGD1; uncertain significance
2043 P → S: in CORD3; uncertain significance; dbSNP:rs763230559
2050 V → 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
2059 natural variant: G -> A
2064 A → T: in STGD1; uncertain significance; dbSNP:rs61753040
2073:2074 binding
2074 G → V: in STGD1; uncertain significance; dbSNP:rs367839100
2077 R → 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
2078 K → E: in STGD1; uncertain significance
2096 E → K: in STGD1; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750646; E→Q: Does not affect protein folding; when associated with Q-1087. Loss of ATPase activity; when associated with Q-1087.
2097 P → S: in STGD1; uncertain significance; dbSNP:rs1166357291
2106 R → C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750648
2107 R → C: in STGD1; uncertain significance; dbSNP:rs2297669; R → H: in STGD1 and CORD3; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs62642564; R→P: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
2131 E → K: in STGD1; uncertain significance; dbSNP:rs61750652
2140 L → Q: in STGD1; uncertain significance; dbSNP:rs774475956
2150 C → Y: in STGD1 and CORD3; dbSNP:rs61751384
2177 D → N: in CORD3, ARMD2 and STGD1; uncertain significance; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555
2180 P→L: Does not affect protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
2188 F → S: in STGD1; uncertain significance; dbSNP:rs61750658
2216 A → V: in dbSNP:rs886044763
2221 L → P: in STGD1; uncertain significance
2237 T → P: in STGD1; uncertain significance
2244:2249 Essential for ATP binding and ATPase activity
2255 S → I: in dbSNP:rs6666652

Query Sequence

>3607445 FitnessBrowser__Dino:3607445
MSPLVQIEGVTAAYGASQALFGVDLTLKEGGALALMGRNGMGKSTTLKTLCGLLPPTGGR
VRLAGVEITGRPAHRIARLGVGLVPEGRRCFAPLTVAENLLAAARPGPWDMARVGALFPR
LAERRDQVARSLSGGEQQMLAIGRALMTNPRLLVLDEATEGLAPVVRQEIWAAIARLRAE
GGLSLILVDKSLRELRQVADTAVILARGRTVWSGSIDALGAEQTNRWLGV

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