SitesBLAST
Comparing Ga0059261_2703 Ga0059261_2703 ABC-type multidrug transport system, ATPase component to proteins with known functional sites using BLASTp with E ≤ 0.001.
Or try Sites on a Tree, PaperBLAST, Conserved Domains, or compare to all protein structures
Found 20 (the maximum) hits to proteins with known functional sites (download)
4yerA Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution
39% identity, 81% coverage: 1:254/313 of query aligns to 1:255/285 of 4yerA
- binding adenosine-5'-diphosphate: F14 (≠ Y14), F17 (≠ H18), N39 (= N40), G40 (= G41), G42 (= G43), K43 (= K44), T44 (= T45), T45 (= T46), T135 (≠ E134), F136 (≠ L135), S137 (= S136)
7roqA Alternative structure of human abca1
35% identity, 91% coverage: 26:311/313 of query aligns to 792:1087/1831 of 7roqA
Sites not aligning to the query:
8ee6A Cryo-em structure of human abca7 in pe/ch nanodiscs (see paper)
34% identity, 97% coverage: 1:305/313 of query aligns to 620:933/1808 of 8ee6A
Sites not aligning to the query:
7tbwA The structure of atp-bound abca1 (see paper)
35% identity, 96% coverage: 5:305/313 of query aligns to 754:1048/1928 of 7tbwA
- binding adenosine-5'-triphosphate: Y763 (= Y14), D765 (≠ S16), K768 (= K19), N790 (= N40), G791 (= G41), G793 (= G43), K794 (= K44), T795 (= T45), Q835 (= Q85), Q887 (≠ E134), S889 (= S136), H944 (= H192)
- binding magnesium ion: Q835 (= Q85), D912 (= D159), Q913 (≠ E160)
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 1630, 1633, 1657, 1658, 1660, 1661, 1662, 1663, 1702, 1753, 1755, 1756, 1757, 1779, 1783, 1811
- binding cholesterol: 218, 219, 360, 367
- binding magnesium ion: 1662, 1702
8eopA Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state (see paper)
38% identity, 79% coverage: 3:250/313 of query aligns to 648:891/1687 of 8eopA
- binding adenosine-5'-triphosphate: F659 (≠ Y14), S662 (= S16), A666 (= A20), N686 (= N40), G687 (= G41), G689 (= G43), K690 (= K44), T691 (= T45), T692 (= T46), H782 (≠ E134), S784 (= S136)
Sites not aligning to the query:
8f5bA Human abca4 structure in complex with amp-pnp
32% identity, 97% coverage: 3:305/313 of query aligns to 719:1030/1924 of 8f5bA
Sites not aligning to the query:
7e7qA Cryo-em structure of human abca4 in atp-bound state (see paper)
31% identity, 97% coverage: 3:305/313 of query aligns to 790:1092/1958 of 7e7qA
- binding adenosine-5'-triphosphate: F801 (≠ Y14), C804 (≠ S16), A808 (= A20), N828 (= N40), G831 (= G43), K832 (= K44), T833 (= T45), T834 (= T46), Q873 (= Q85), S926 (= S136), G928 (= G138)
- binding magnesium ion: T833 (= T45), Q873 (= Q85)
Sites not aligning to the query:
7lkzA Structure of atp-bound human abca4 (see paper)
31% identity, 97% coverage: 3:305/313 of query aligns to 707:1024/1920 of 7lkzA
- binding adenosine-5'-triphosphate: F718 (≠ Y14), A725 (= A20), N745 (= N40), G746 (= G41), G748 (= G43), K749 (= K44), T750 (= T45), K834 (= K127), D841 (≠ E134), S843 (= S136)
- binding magnesium ion: T750 (= T45), Q790 (= Q85)
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
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)
34% identity, 76% coverage: 3:241/313 of query aligns to 927:1166/2273 of P78363
- P940 (≠ A15) mutation to R: Decreases 11-cis-Retinal binding affinity by 50%.
- R943 (≠ H18) 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 (≠ N29) to D: in STGD1; uncertain significance; dbSNP:rs61749447
- T959 (≠ F34) to I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
- 963:970 (vs. 38:45, 88% identical) binding
- N965 (= N40) 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 (= G41) mutation to D: Abolishes basal and retinal-stimulated ATP hydrolysis.
- K969 (= K44) 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 (= T45) to P: in STGD1; uncertain significance; dbSNP:rs1570377849
- T971 (= T46) to N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
- T972 (≠ L47) to N: in STGD1; uncertain significance; dbSNP:rs61749451
- L973 (≠ I48) to S: in STGD1; uncertain significance
- T977 (≠ C52) to P: in STGD1; uncertain significance
- G978 (= G53) to D: in STGD1; uncertain significance; dbSNP:rs61749453
- G991 (= G66) to R: in FFM and STGD1; dbSNP:rs61749455
- E1022 (≠ A97) to G: in STGD1; uncertain significance; to K: in STGD1; uncertain significance; dbSNP:rs61749459
- A1038 (= A113) 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 (≠ S123) to D: in STGD1; uncertain significance; dbSNP:rs61750062
- K1054 (= K127) binding
- S1071 (≠ L144) to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
- I1074 (≠ K147) to L: in STGD1; uncertain significance
- G1078 (≠ H151) to E: in STGD1; uncertain significance
- E1087 (= E160) mutation to Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
- G1091 (= G164) 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 (≠ V167) to T: in STGD1; uncertain significance
- R1097 (= R170) to S: in STGD1; uncertain significance
- R1098 (= R171) to C: in STGD1; uncertain significance; dbSNP:rs756840095
- S1099 (≠ D172) to P: in STGD1; uncertain significance; dbSNP:rs61750119
- D1102 (≠ K175) to Y: in dbSNP:rs138641544
- R1108 (= R181) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
- E1122 (= E196) to K: in STGD1 and CORD3; dbSNP:rs61751399
- R1129 (= R203) 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 (≠ V204) to T: in STGD1; uncertain significance; dbSNP:rs1064793010
- C1140 (≠ V215) to W: in STGD1; uncertain significance
- L1145 (≠ E220) to H: in CORD3; uncertain significance
- K1148 (= K223) natural variant: K -> T
- L1159 (= L234) to S: in STGD1; uncertain significance; dbSNP:rs1340749727
- R1161 (≠ E236) to H: in STGD1; uncertain significance; dbSNP:rs768278935
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)
- 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
7tbyA The structure of human abca1 in nanodisc (see paper)
35% identity, 91% coverage: 26:311/313 of query aligns to 703:990/1788 of 7tbyA
Sites not aligning to the query:
7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
32% identity, 91% coverage: 20:305/313 of query aligns to 824:1117/2003 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
7m1qA Human abca4 structure in complex with n-ret-pe (see paper)
33% identity, 89% coverage: 24:301/313 of query aligns to 825:1097/1911 of 7m1qA
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: 291, 296, 538, 539, 600, 604, 1157, 1310, 1437, 1575
- binding magnesium ion: 287, 289
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, 76% coverage: 3:241/313 of query aligns to 927:1166/2281 of F1MWM0
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
O95477 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) (see 35 papers)
38% identity, 71% coverage: 5:226/313 of query aligns to 899:1123/2261 of O95477
- D917 (≠ G22) to Y: in a colorectal cancer sample; somatic mutation
- T929 (≠ F34) to I: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane
- N935 (= N40) to S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs28937313
- K939 (= K44) mutation to M: Inhibits ATPase activity; when associated with M-1952. Decreases translocase activity; when associated with M-1952. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-1952.
- S1042 (≠ L144) modified: Phosphoserine; by PKA
- P1065 (≠ V167) natural variant: P -> S
- M1091 (≠ I194) to T: in FHA1; loss of localization to plasma membrane; decreased cholesterol efflux; decreased phospholipid efflux
- C1110 (≠ L213) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1111.
- C1111 (≠ L214) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1110.
Sites not aligning to the query:
- 3 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased cholesterol efflux. Decreased phospholipid efflux. Decreased palmitoylation; when associated with S-23, S-1110 and S-1111.
- 23 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased palmitoylation; when associated with S-3, S-1110 and S-1111.
- 74 I→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.; I→K: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-371.
- 75 modified: Disulfide link with 309
- 85 P → L: in FHA1; Alabama; dbSNP:rs145183203
- 98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 100 S→C: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
- 210 E → D: in a colorectal cancer sample; somatic mutation
- 219 R → K: in dbSNP:rs2230806
- 230 R → C: in dbSNP:rs9282541
- 244 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 248 P → A: in dbSNP:rs142625938
- 255 A → T: in TGD; deficient cellular cholesterol efflux; dbSNP:rs758100110
- 304 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-308.
- 308 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-304.
- 309 modified: Disulfide link with 75
- 364 S → C: in dbSNP:rs775035559
- 371 I→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane. 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-74 or C-375.; I→E: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-74.
- 375 L→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.
- 399 V → A: in dbSNP:rs9282543
- 401 K → Q: in dbSNP:rs138487227
- 496 R → W: in dbSNP:rs147675550
- 568 K→A: 60-65% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane.
- 573 Y→F: No effect on phospholipid and cholesterol efflux and on localization to cell membrane.
- 581 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-584 and K-585.
- 583 F→K: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-590.
- 584 E→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-585.
- 585 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-584.
- 590 W → S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs137854496; W→E: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-583.
- 593 F→L: Moderately decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
- 638 R → Q: in dbSNP:rs374190304
- 771 V → M: in dbSNP:rs2066718
- 774 T → P: in dbSNP:rs35819696; natural variant: T -> S
- 776 K → N: in dbSNP:rs138880920
- 815 E → G: in dbSNP:rs145582736
- 825 V → I: in dbSNP:rs2066715
- 883 I → M: in dbSNP:rs2066714
- 1172 E → D: in dbSNP:rs33918808
- 1181 S → F: in dbSNP:rs76881554
- 1216 G → V: in dbSNP:rs562403512
- 1341 R → T: in dbSNP:rs147743782
- 1376 S → G: in dbSNP:rs145689805
- 1379 L → F: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane
- 1407 A → T: in a colorectal cancer sample; somatic mutation; dbSNP:rs189206655
- 1463 modified: Disulfide link with 1477
- 1477 modified: Disulfide link with 1463; C → R: in TGD; loss of interaction with APOE; unable to generate APOE-containing high density lipoproteins; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs137854494
- 1512 T→M: Moderately decreased protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
- 1555 I → T: in dbSNP:rs1997618
- 1587 K → R: in dbSNP:rs2230808
- 1611 N → D: in FHA1; deficient cellular cholesterol efflux
- 1615 R → Q: in dbSNP:rs1251839800
- 1648 L → P: in dbSNP:rs1883024
- 1670 A → T: in dbSNP:rs1203589782
- 1680 R → Q: in dbSNP:rs150125857
- 1704 V → D: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane
- 1731 S → C: in dbSNP:rs760507032
- 1897 R → W: in FHA1; uncertain significance; dbSNP:rs760768125
- 1925 R → Q: in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906
- 1952 K→M: Inhibits ATPase activity; when associated with M-939. Decreases translocase activity; when associated with M-939. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-939.
- 2054 modified: Phosphoserine; by PKA
- 2081 R → W: in TGD; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane; dbSNP:rs137854501
- 2109 A → T: in a colorectal cancer sample; somatic mutation
- 2150 P → L: in FHA1; moderately decreased protein abundance; does not affect ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs369098049
- 2163 natural variant: F -> S
- 2168 L → P: in dbSNP:rs2853577
- 2243 D → E: in dbSNP:rs34879708
- 2244 V → I: in dbSNP:rs144588452
5x40A Structure of a cbio dimer bound with amppcp (see paper)
38% identity, 70% coverage: 1:220/313 of query aligns to 1:225/280 of 5x40A
- binding phosphomethylphosphonic acid adenylate ester: F14 (≠ Y14), V18 (≠ H18), A20 (= A20), N40 (= N40), G41 (= G41), G43 (= G43), K44 (= K44), S45 (≠ T45), T46 (= T46), Q88 (= Q85), H139 (≠ M133), M140 (≠ E134), L141 (= L135), S142 (= S136), G144 (= G138), Q145 (≠ M139), Q166 (≠ E160), H198 (= H192)
- binding magnesium ion: S45 (≠ T45), Q88 (= Q85)
P41233 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; EC 7.6.2.1 from Mus musculus (Mouse) (see paper)
38% identity, 71% coverage: 5:226/313 of query aligns to 899:1123/2261 of P41233
Sites not aligning to the query:
- 489 modified: carbohydrate, N-linked (GlcNAc...) asparagine
Q5SSE9 ATP-binding cassette sub-family A member 13; EC 7.6.2.- from Mus musculus (Mouse) (see paper)
30% identity, 98% coverage: 3:310/313 of query aligns to 3808:4133/5034 of Q5SSE9
- K3849 (= K44) mutation to M: Does not affect intracellular vesicle localization. Affects cholesterol internalization.
- T3999 (= T191) mutation to A: Does not affect protein expression. Affects intracellular vesicles localization. Impairs intracellular cholesterol accumulation in the vesicle.
Sites not aligning to the query:
- 3577 H→P: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.
- 4735 K→M: Does not affect intracellular vesicle localization.Affects cholesterol internalization.
- 4818 R→C: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.
7lkpA Structure of atp-free human abca4 (see paper)
32% identity, 89% coverage: 24:301/313 of query aligns to 752:1039/1941 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
Q9BZC7 ATP-binding cassette sub-family A member 2; ATP-binding cassette transporter 2; ATP-binding cassette 2; EC 7.6.2.- from Homo sapiens (Human) (see paper)
37% identity, 67% coverage: 4:212/313 of query aligns to 989:1199/2435 of Q9BZC7
Sites not aligning to the query:
- 271 modified: N5-methylglutamine; Q→R: Abolishes methylation by N6AMT1.
P34358 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans (see 2 papers)
35% identity, 77% coverage: 7:246/313 of query aligns to 548:803/1704 of P34358
- K586 (= K44) mutation to R: Cell corpses not engulfed.
- E639 (≠ A97) mutation to G: Cell corpses not engulfed.
Sites not aligning to the query:
- 126 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1012 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1045 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1417 K→R: Some cell corpses not engulfed.
Query Sequence
>Ga0059261_2703 Ga0059261_2703 ABC-type multidrug transport system, ATPase component
MQPILSVRGVSKTYASGHKALGSVDLDINKGEIFALLGPNGAGKTTLISIICGIVTPSSG
TIVVDGHDAISEPRAARMKIGLVPQELSVDMFETVQATTRYSRRLFGRPANDAYIDQVLK
DLSLYDKRNSKVMELSGGMKRRVLIAKALAHEPDILFLDEPTAGVDVSLRRDMWKLIGSL
RERGTTIILTTHYIEEAEEMADRVGVINKGELLLVEGKAELMKKLGKREMDIALVEPMTA
IPGELEEWHLALEDEGHRLRYTFDAQAERTGIPSLLRKLGDLGIQFKDLDTSKSSLEDIF
VDLVETRNEEKAA
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