SitesBLAST
Comparing WP_078427103.1 NCBI__GCF_002019605.1:WP_078427103.1 to proteins with known functional sites using BLASTp with E ≤ 0.001.
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Found 20 (the maximum) hits to proteins with known functional sites (download)
P04983 Ribose import ATP-binding protein RbsA; EC 7.5.2.7 from Escherichia coli (strain K12) (see paper)
37% identity, 94% coverage: 1:479/509 of query aligns to 1:473/501 of P04983
- K43 (= K43) mutation to R: Loss of transport.
4ymuJ Crystal structure of an amino acid abc transporter complex with arginines and atps (see paper)
34% identity, 45% coverage: 4:232/509 of query aligns to 1:223/240 of 4ymuJ
- binding adenosine-5'-triphosphate: F11 (= F14), V16 (≠ A19), S36 (≠ N39), G37 (= G40), S38 (≠ A41), G39 (= G42), K40 (= K43), S41 (= S44), T42 (= T45), E162 (= E166), H194 (= H198)
- binding magnesium ion: S41 (= S44), E162 (= E166)
3c4jA Abc protein artp in complex with atp-gamma-s
33% identity, 45% coverage: 4:232/509 of query aligns to 3:225/242 of 3c4jA
3c41J Abc protein artp in complex with amp-pnp/mg2+
33% identity, 45% coverage: 4:232/509 of query aligns to 3:225/242 of 3c41J
2olkA Abc protein artp in complex with adp-beta-s
33% identity, 45% coverage: 4:232/509 of query aligns to 3:225/242 of 2olkA
2oljA Abc protein artp in complex with adp/mg2+
33% identity, 45% coverage: 4:232/509 of query aligns to 3:225/242 of 2oljA
4u00A Crystal structure of ttha1159 in complex with adp (see paper)
31% identity, 41% coverage: 4:213/509 of query aligns to 2:209/241 of 4u00A
P30750 Methionine import ATP-binding protein MetN; EC 7.4.2.11 from Escherichia coli (strain K12) (see 3 papers)
31% identity, 48% coverage: 4:248/509 of query aligns to 1:252/343 of P30750
- 40:46 (vs. 39:45, 86% identical) binding ATP
- E166 (= E166) mutation to Q: Exhibits little ATPase activity.
Sites not aligning to the query:
- 278:283 binding L-methionine
- 295 N→A: Reduces the binding of L-methionine to undetectable levels.
- 295:296 binding L-methionine
3tuzC Inward facing conformations of the metni methionine abc transporter: cy5 semet soak crystal form (see paper)
30% identity, 48% coverage: 3:248/509 of query aligns to 1:253/344 of 3tuzC
Sites not aligning to the query:
3tuiC Inward facing conformations of the metni methionine abc transporter: cy5 native crystal form (see paper)
30% identity, 48% coverage: 3:248/509 of query aligns to 1:253/344 of 3tuiC
6cvlD Crystal structure of the escherichia coli atpgs-bound metni methionine abc transporter in complex with its metq binding protein (see paper)
30% identity, 48% coverage: 3:248/509 of query aligns to 1:253/344 of 6cvlD
- binding phosphothiophosphoric acid-adenylate ester: F12 (= F14), Q14 (vs. gap), I19 (= I17), S41 (≠ N39), G42 (= G40), A43 (= A41), G44 (= G42), K45 (= K43), S46 (= S44), T47 (= T45), N141 (≠ D140), S143 (= S142), Q146 (≠ M145), H200 (= H198)
7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
30% identity, 39% coverage: 18:217/509 of query aligns to 823:1016/2003 of 7e7oA
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
7lkpA Structure of atp-free human abca4 (see paper)
29% identity, 40% coverage: 12:217/509 of query aligns to 732:940/1941 of 7lkpA
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
8f5bA Human abca4 structure in complex with amp-pnp
30% identity, 40% coverage: 16:217/509 of query aligns to 734:929/1924 of 8f5bA
Sites not aligning to the query:
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, 40% coverage: 16:217/509 of query aligns to 942:1137/2273 of P78363
- R943 (≠ I17) 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 (≠ K28) to D: in STGD1; uncertain significance; dbSNP:rs61749447
- T959 (≠ H33) to I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
- 963:970 (vs. 37:44, 75% identical) binding ATP
- 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 (≠ L46) to N: in STGD1; uncertain significance; dbSNP:rs61749451
- L973 (≠ M47) to S: in STGD1; uncertain significance
- T977 (≠ F51) 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 (= A117) 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 (= G129) to D: in STGD1; uncertain significance; dbSNP:rs61750062
- K1054 (≠ D133) binding ATP
- S1071 (≠ E150) to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
- I1074 (≠ K153) to L: in STGD1; uncertain significance
- G1078 (≠ R157) to E: in STGD1; uncertain significance
- E1087 (= E166) mutation to Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
- G1091 (≠ A170) 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 (= P173) to T: in STGD1; uncertain significance
- R1097 (≠ I176) to S: in STGD1; uncertain significance
- R1098 (≠ T177) to C: in STGD1; uncertain significance; dbSNP:rs756840095
- S1099 (≠ E178) to P: in STGD1; uncertain significance; dbSNP:rs61750119
- D1102 (≠ Q181) to Y: in dbSNP:rs138641544
- R1108 (≠ V187) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
- E1122 (= E202) to K: in STGD1 and CORD3; dbSNP:rs61751399
- R1129 (= R209) 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 (≠ C210) to T: in STGD1; uncertain significance; dbSNP:rs1064793010
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%.
- 1029:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1099:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1140 C → W: 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; dbSNP:rs1385119665
- 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 ATP
- 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 ATP
- 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
7roqA Alternative structure of human abca1
29% identity, 39% coverage: 17:217/509 of query aligns to 784:978/1831 of 7roqA
Sites not aligning to the query:
4yerA Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution
31% identity, 56% coverage: 1:285/509 of query aligns to 1:278/285 of 4yerA
- binding adenosine-5'-diphosphate: F14 (= F14), F17 (≠ I17), N39 (= N39), G40 (= G40), G42 (= G42), K43 (= K43), T44 (≠ S44), T45 (= T45), T135 (≠ D140), F136 (≠ I141), S137 (= S142)
8wm7D Cryo-em structure of cyanobacterial nitrate/nitrite transporter nrtbcd in complex with signalling protein pii (see paper)
34% identity, 39% coverage: 21:216/509 of query aligns to 25:214/257 of 8wm7D
Sites not aligning to the query:
P75831 Macrolide export ATP-binding/permease protein MacB; EC 7.6.2.- from Escherichia coli (strain K12) (see paper)
28% identity, 42% coverage: 1:216/509 of query aligns to 1:219/648 of P75831
- K47 (= K43) mutation to L: Lack of activity.
- D169 (= D165) mutation to N: Lack of activity.
5xu1B Structure of a non-canonical abc transporter from streptococcus pneumoniae r6 (see paper)
33% identity, 38% coverage: 22:216/509 of query aligns to 25:218/226 of 5xu1B
Query Sequence
>WP_078427103.1 NCBI__GCF_002019605.1:WP_078427103.1
MSYVIEMKDIRKEFPGIVANDNVTLQVKQGEIHALLGENGAGKSTLMNVLFGLYQPEKGE
ILVKGKPVKITDPNVANRLGIGMVHQHFMLVEKFTVTENIILGKEPTAGGKINIKKAAKA
VETISKQYGLAVDPYAKIQDISVGMQQRVEILKTLYRGAEILIFDEPTAALTPQEITELI
QIMKKLVSEGKSIILITHKLKEIMEVCDRCTVIRRGRGIGTVDISESTPDSLAAMMVGRE
VNFSVEKDPAQPKDAVLQIKDLVVKDSRDITAVNDLHLEVHAGEILGVAGVDGNGQTELI
EAITGLRKPTGGNIQLNGQDITGLTPRKITGAGVGHIPQDRHKHGLVLDFTVGENIVLQT
YYQKPYSTSGVLNFNEIYKKANELIEDYDVRTPSEHTLARALSGGNQQKAIIAREVDRSP
DLLIAAQPTRGLDVGAIESIHHRLVKERDKGKAVLLISLELDEVLNVSDRIAVIYEGKIV
AIVDADKTNENELGLLMAGGSAKKEGETT
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