SitesBLAST

P07821 Iron(3+)-hydroxamate import ATP-binding protein FhuC; Ferric hydroxamate uptake protein C; Ferrichrome transport ATP-binding protein FhuC; Iron(III)-hydroxamate import ATP-binding protein FhuC; EC 7.2.2.16 from Escherichia coli (strain K12) (see 2 papers)
30% identity, 93% coverage: 4:238/254 of query aligns to 14:237/265 of P07821

query
sites
P07821

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K50 (= K40) mutation to Q: Lack of activity.
D172 (= D174) mutation to E: Lack of activity.
E173 (= E175) mutation to A: Lack of activity.

3c4jA Abc protein artp in complex with atp-gamma-s
27% identity, 95% coverage: 1:241/254 of query aligns to 3:230/242 of 3c4jA

query
sites
3c4jA

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binding phosphothiophosphoric acid-adenylate ester: F13 (= F11), V18 (≠ A16), S38 (≠ N36), G39 (= G37), S40 (≠ A38), G41 (= G39), K42 (= K40), S43 (≠ T41), T44 (= T42)

3c41J Abc protein artp in complex with amp-pnp/mg2+
27% identity, 95% coverage: 1:241/254 of query aligns to 3:230/242 of 3c41J

query
sites
3c41J

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binding phosphoaminophosphonic acid-adenylate ester: F13 (= F11), V18 (≠ A16), S38 (≠ N36), G39 (= G37), G41 (= G39), K42 (= K40), S43 (≠ T41), T44 (= T42)
binding magnesium ion: S43 (≠ T41), D163 (= D174)

2olkA Abc protein artp in complex with adp-beta-s
27% identity, 95% coverage: 1:241/254 of query aligns to 3:230/242 of 2olkA

query
sites
2olkA

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binding 5'-o-[(r)-hydroxy(thiophosphonooxy)phosphoryl]adenosine: F13 (= F11), V18 (≠ A16), S38 (≠ N36), G39 (= G37), S40 (≠ A38), G41 (= G39), K42 (= K40), S43 (≠ T41), T44 (= T42)

2oljA Abc protein artp in complex with adp/mg2+
27% identity, 95% coverage: 1:241/254 of query aligns to 3:230/242 of 2oljA

query
sites
2oljA

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binding adenosine-5'-diphosphate: F13 (= F11), V18 (≠ A16), S38 (≠ N36), G39 (= G37), S40 (≠ A38), G41 (= G39), K42 (= K40), S43 (≠ T41), T44 (= T42)

4u00A Crystal structure of ttha1159 in complex with adp (see paper)
29% identity, 95% coverage: 1:241/254 of query aligns to 2:228/241 of 4u00A

query
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4u00A

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binding adenosine-5'-diphosphate: F12 (= F11), V17 (≠ A16), S37 (≠ N36), G38 (= G37), S39 (≠ A38), G40 (= G39), K41 (= K40), S42 (≠ T41), T43 (= T42)

8f5bA Human abca4 structure in complex with amp-pnp
30% identity, 91% coverage: 4:233/254 of query aligns to 723:936/1924 of 8f5bA

query
sites
8f5bA

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binding phosphoaminophosphonic acid-adenylate ester: N757 (= N36), G758 (= G37), G760 (= G39), K761 (= K40), T762 (= T41), T763 (= T42), Q802 (= Q83), D853 (= D149)
binding magnesium ion: T762 (= T41), Q802 (= Q83)

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

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)
30% identity, 91% coverage: 4:233/254 of query aligns to 931:1144/2273 of P78363

query
sites
P78363

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P940 (vs. gap) mutation to R: Decreases 11-cis-Retinal binding affinity by 50%.
R943 (≠ L14) to Q: risk factor for STGD1; risk factor for ARMD2; decreases 11-cis-Retinal binding affinity by 100-fold; dbSNP:rs1801581; to W: in STGD1 and FFM; dbSNP:rs61749446
Y954 (≠ E25) to D: in STGD1; uncertain significance; dbSNP:rs61749447
T959 (≠ N30) to I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
963:970 (vs. 34:41, 88% identical) binding
N965 (= N36) 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 (= G37) mutation to D: Abolishes basal and retinal-stimulated ATP hydrolysis.
K969 (= K40) 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 (= T41) to P: in STGD1; uncertain significance; dbSNP:rs1570377849
T971 (= T42) to N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
T972 (≠ F43) to N: in STGD1; uncertain significance; dbSNP:rs61749451
L973 (≠ F44) to S: in STGD1; uncertain significance
T977 (≠ A48) to P: in STGD1; uncertain significance
G978 (= G49) to D: in STGD1; uncertain significance; dbSNP:rs61749453
G991 (= G62) to R: in FFM and STGD1; dbSNP:rs61749455
E1022 (≠ D95) to G: in STGD1; uncertain significance; to K: in STGD1; uncertain significance; dbSNP:rs61749459
A1038 (≠ E123) 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 (= G138) to D: in STGD1; uncertain significance; dbSNP:rs61750062
K1054 (≠ L142) binding
S1071 (≠ A159) to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
I1074 (≠ L162) to L: in STGD1; uncertain significance
G1078 (≠ T166) to E: in STGD1; uncertain significance
E1087 (= E175) mutation to Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
G1091 (= G179) 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 (= P182) to T: in STGD1; uncertain significance
R1097 (≠ T185) to S: in STGD1; uncertain significance
R1098 (≠ V186) to C: in STGD1; uncertain significance; dbSNP:rs756840095
S1099 (≠ G187) to P: in STGD1; uncertain significance; dbSNP:rs61750119
D1102 (≠ E190) to Y: in dbSNP:rs138641544
R1108 (= R197) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
E1122 (≠ M211) to K: in STGD1 and CORD3; dbSNP:rs61751399
R1129 (≠ K218) 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 (= I219) to T: in STGD1; uncertain significance; dbSNP:rs1064793010
C1140 (≠ A229) 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
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

7lkzA Structure of atp-bound human abca4 (see paper)
30% identity, 91% coverage: 4:233/254 of query aligns to 711:924/1920 of 7lkzA

query
sites
7lkzA

I

V

R

K

N

N

L

L

T

V

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K

I

F
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F

G

E

-

P

-

C

G

G

L

R

S

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A
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A

V

V

H

D

D

R

V

L

S

N

I

I

T

T

F

F

E

Y

T

E

G

N

H

Q

I

I

N

T

A

A

I

F

I

L

G

G

P

H

N
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N

G
|
G

A

A

G
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G

K
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K

T
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T

T

T

F

T

F

L

N

S

L

I

I

L

A

T

G

G

T

L

H

L

A

P

P

P

T

T

S

S

G

G

Q

T

I

V

L

L

L

V

K

G

G

G

R

R

N

D

V

I

A

E

G

-

L

-

R

T

A

S

D

L

Q

D

I

A

A

V

R

R

L

Q

G

S

V

L

A

G

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M

T

C

F

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Q
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Q

A

H

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N

H

I

L

L

F

F

D

H

R

H

A

L

T

T

V

V

L

A

D

E

N

H

L

M

I

L

V

F

G

Y

H

A

R

Q

L

L

R

K

T

G

Q

K

A

S

G

-

L

-

A

-

D

-

V

-

I

-

F

-

N

-

T

-

R

-

L

-

R

Q

E

E

E

A

R

Q

L

L

C

-

R

-

A

-

K

E

A

M

E

E

E

A

A

M

L

L

D

E

F

D

V

T

G

G

L

L

A

H

H

H

L
x
K

A

R

H

N

E

E

V

E

A

A

A

Q

D
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D

I

L

T
x
S

Q

G

E

G

E

M

R

Q

K

R

R

K

V

L

A

S

F

V

A

A

L

I

A

A

L

F

A

V

T

G

D

D

A

A

E

K

L

V

L

I

L

L

D

D

E

Q

P

P

A

T

G

S

G

G

V

V

N

D

P

P

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Y

E

S

T

R

V

R

G

S

L

I

A

W

E

D

L

L

I

L

R

L

K

K

M

Y

V

-

R

R

H

S

G

G

K

R

T

T

V

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C

I

L

M

I

S

E

T

H

H

K

H

M

M

D

D

M

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I

A

M

D

R

L

L

L

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D

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M

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V

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Q

G

G

E

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Y

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G

G

S

T

P

P

binding adenosine-5'-triphosphate: F718 (= F11), A725 (= A16), N745 (= N36), G746 (= G37), G748 (= G39), K749 (= K40), T750 (= T41), K834 (≠ L142), D841 (= D149), S843 (≠ T151)
binding magnesium ion: T750 (= T41), Q790 (= Q83)

Sites not aligning to the query:

binding [(2~{R})-1-[2-azanylethoxy(oxidanyl)phosphoryl]oxy-3-hexadecanoyloxy-propan-2-yl] (~{Z})-octadec-9-enoate: 22, 465, 566, 567, 568, 572, 592, 593, 595, 1076, 1355, 1362, 1470, 1471
binding adenosine-5'-triphosphate: 1619, 1646, 1647, 1649, 1650, 1651, 1652, 1742, 1744, 1745

Query Sequence

>RR42_RS34795 FitnessBrowser__Cup4G11:RR42_RS34795
MLEIRNLTRKFGGLSAVHDVSITFETGHINAIIGPNGAGKTTFFNLIAGTHAPTSGQILL
KGRNVAGLRADQIARLGVARTFQATHLFDRATVLDNLIVGHRLRTQAGLADVIFNTRRLR
EEERLCRAKAEEALDFVGLAHLAHEVAADITQEERKRVAFALALATDAELLLLDEPAGGV
NPEETVGLAELIRKMVRHGKTVCLIEHKMDMIMRLADKIMVLNHGEKIAEGSPAQIQQDP
QVIEAYLGADHVAA

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