SitesBLAST
Comparing Ga0059261_2556 Ga0059261_2556 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
41% identity, 39% coverage: 333:559/587 of query aligns to 2:230/285 of 4yerA
- binding adenosine-5'-diphosphate: F14 (= F345), F17 (= F348), N39 (= N370), G40 (= G371), G42 (= G373), K43 (= K374), T44 (≠ S375), T45 (= T376), T135 (≠ A466), F136 (≠ L467), S137 (≠ P468)
Q8R420 Phospholipid-transporting ATPase ABCA3; ATP-binding cassette sub-family A member 3; Xenobiotic-transporting ATPase ABCA3; EC 7.6.2.1; EC 7.6.2.2 from Mus musculus (Mouse) (see paper)
33% identity, 40% coverage: 350:585/587 of query aligns to 1398:1645/1704 of Q8R420
Sites not aligning to the query:
- 292 E→V: Knockin new born mice are healthy and survive into adulthood without overt signs of respiratory distress. Knockin mice show a severe lung phenotype that begins with alveolar inflammatory cell infiltration at the early stage of the mouse life followed by aberrant lung remodeling with characteristics of diffuse parenchymal lung disease (DPLD)- and emphysema-like alveolar disruption in older mice.
Q5SSE9 ATP-binding cassette sub-family A member 13; EC 7.6.2.- from Mus musculus (Mouse) (see paper)
38% identity, 35% coverage: 21:224/587 of query aligns to 3821:4025/5034 of Q5SSE9
- K3849 (= K49) mutation to M: Does not affect intracellular vesicle localization. Affects cholesterol internalization.
- T3999 (= T198) 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.
7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
40% identity, 35% coverage: 19:224/587 of query aligns to 818:1023/2003 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
8ee6A Cryo-em structure of human abca7 in pe/ch nanodiscs (see paper)
35% identity, 38% coverage: 335:557/587 of query aligns to 1497:1722/1808 of 8ee6A
Sites not aligning to the query:
E9Q876 Glucosylceramide transporter ABCA12; ATP-binding cassette sub-family A member 12; EC 7.6.2.1 from Mus musculus (Mouse) (see 2 papers)
37% identity, 39% coverage: 3:229/587 of query aligns to 1341:1566/2595 of E9Q876
- 1388:1461 (vs. 53:124, 27% identical) mutation to M: In a mouse model for harlequin ichthyosis (HI), smooth skin (smsk) mutant mice show a pronounced perinatal lethal skin phenotype in 25% of the offspring and newborn mutant pups die within a few hours after birth, and appear severely dehydrated with dry cracking skin. Smsk homozygous mutants embryos show a normal appearance at 14.5 dpc, but at 16.5 dpc develop a partial absence of normal skin folds around the trunk and limbs, and by 18.5 dpc develop a taut, thick skin and limb contractures.
Sites not aligning to the query:
- 1996 G→D: In a mouse model for harlequin ichthyosis (HI), homozygous mice are embryonic lethal but occasionally pups are found in the first few hours after birth but die and are severely dehydrated and fail to suckle normally. Homozygous pups show hallmarks of HI desease including hyperkeratosis, abnormal extracellular lipid lamellae and defects in cornified envelope processing. At 14.5 dpc and 15.5 dpc homozygous embryos appear normal; however from 16.5 dpc onwards they are characterized by an absence of normal skin folds around the trunk and limbs. As development progressed, embryos develop a taut, thick epidermis and multiple contractures affecting the limbs. Late stage embryos are smaller.
7lkpA Structure of atp-free human abca4 (see paper)
34% identity, 43% coverage: 22:276/587 of query aligns to 745:1002/1941 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
8eopA Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state (see paper)
34% identity, 37% coverage: 335:553/587 of query aligns to 1451:1672/1687 of 8eopA
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 659, 662, 666, 686, 687, 689, 690, 691, 692, 782, 784
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)
40% identity, 34% coverage: 25:224/587 of query aligns to 945:1144/2273 of P78363
- Y954 (≠ K34) to D: in STGD1; uncertain significance; dbSNP:rs61749447
- T959 (= T39) to I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
- 963:970 (vs. 43:50, 75% identical) binding
- N965 (≠ D45) 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 (= G46) mutation to D: Abolishes basal and retinal-stimulated ATP hydrolysis.
- K969 (= K49) 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 (= T50) to P: in STGD1; uncertain significance; dbSNP:rs1570377849
- T971 (= T51) to N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
- T972 (≠ L52) to N: in STGD1; uncertain significance; dbSNP:rs61749451
- L973 (≠ I53) to S: in STGD1; uncertain significance
- T977 (≠ A57) to P: in STGD1; uncertain significance
- G978 (= G58) to D: in STGD1; uncertain significance; dbSNP:rs61749453
- G991 (≠ D71) to R: in FFM and STGD1; dbSNP:rs61749455
- E1022 (= E102) to G: in STGD1; uncertain significance; to K: in STGD1; uncertain significance; dbSNP:rs61749459
- A1038 (≠ R118) 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 (≠ D130) to D: in STGD1; uncertain significance; dbSNP:rs61750062
- K1054 (≠ F134) binding
- S1071 (≠ G151) to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
- I1074 (≠ C154) to L: in STGD1; uncertain significance
- G1078 (= G158) to E: in STGD1; uncertain significance
- E1087 (= E167) mutation to Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
- G1091 (= G171) 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 (= P174) to T: in STGD1; uncertain significance
- R1097 (= R177) to S: in STGD1; uncertain significance
- R1098 (= R178) to C: in STGD1; uncertain significance; dbSNP:rs756840095
- S1099 (≠ E179) to P: in STGD1; uncertain significance; dbSNP:rs61750119
- D1102 (≠ K182) to Y: in dbSNP:rs138641544
- R1108 (≠ A188) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
- E1122 (= E203) to K: in STGD1 and CORD3; dbSNP:rs61751399
- R1129 (≠ V210) 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 (= I211) to T: in STGD1; uncertain significance; dbSNP:rs1064793010
- C1140 (= C221) to W: in STGD1; uncertain significance
Sites not aligning to the query:
- 14 N → K: in STGD1; uncertain significance
- 18 R → P: in STGD1; uncertain significance
- 21:2273 natural variant: Missing (in STGD1; uncertain significance)
- 24 R → H: in STGD1; uncertain significance; dbSNP:rs62645958
- 53:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs764744217)
- 54 modified: Disulfide link with 81
- 55 H → R: in CORD3; uncertain significance
- 63 S → P: in CORD3; uncertain significance
- 65 G → E: in STGD1 and CORD3; dbSNP:rs62654395
- 72 G → R: in STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation; dbSNP:rs61751412; G → V: in STGD1; uncertain significance
- 75 modified: Disulfide link with 324
- 81 modified: Disulfide link with 54
- 89:2273 natural variant: Missing (in STGD1; uncertain significance)
- 96 N → H: in STGD1; uncertain significance; dbSNP:rs61748529; N → K: in STGD1; uncertain significance; dbSNP:rs886039297
- 97 Y → C: in STGD1; uncertain significance; dbSNP:rs755691060
- 98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 100 S → P: in STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61748530
- 107:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs765429911)
- 108 D → V: in STGD1; uncertain significance
- 143 P → L: in STGD1; uncertain significance; dbSNP:rs62646860
- 172 G → S: in STGD1; uncertain significance; dbSNP:rs61748532
- 184 S → F: in STGD1; uncertain significance; S → R: in STGD1; uncertain significance
- 185:2273 natural variant: Missing (in STGD1; uncertain significance)
- 206 S → R: in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis; dbSNP:rs61748536
- 212 R → C: in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity; dbSNP:rs61750200; R → H: in dbSNP:rs6657239
- 218:2273 natural variant: Missing (in CORD3; uncertain significance)
- 219:2273 natural variant: Missing (found in a patient with chorioretinal atrophy; uncertain significance)
- 223 K → Q: in STGD1; uncertain significance; dbSNP:rs147619585
- 224 T → M: in a breast cancer sample; somatic mutation; dbSNP:rs373540612
- 240 I → R: in STGD1; uncertain significance; dbSNP:rs1553195472
- 241 E → D: in STGD1; uncertain significance
- 245:2273 natural variant: Missing (in STGD1; uncertain significance)
- 246 A → T: in STGD1; uncertain significance
- 290 R → W: in STGD1; uncertain significance; dbSNP:rs781716640
- 291 P → L: in STGD1; uncertain significance; dbSNP:rs190540405
- 320 S → C: in CORD3; uncertain significance
- 324 modified: Disulfide link with 75
- 326:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs747540967)
- 339:2273 natural variant: Missing (in CORD3; uncertain significance)
- 345 Y → S: in STGD1; uncertain significance
- 370 modified: Disulfide link with 519
- 407 A → V: in STGD1 and CORD3; dbSNP:rs61751264
- 410 I → T: in STGD1; uncertain significance
- 415 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → K: in STGD1; uncertain significance
- 418 F → S: in STGD1; uncertain significance; dbSNP:rs794726979
- 423 H → R: in dbSNP:rs3112831
- 424 V → A: in STGD1 and RP19; uncertain significance
- 431:2273 natural variant: Missing (in STGD1; uncertain significance)
- 440 Y → C: in CORD3; uncertain significance; dbSNP:rs770439859
- 444 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 455 L → M: in RP19; uncertain significance; dbSNP:rs764170051
- 471 E → K: in ARMD2 and STGD1; uncertain significance; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548
- 498 D → E: in STGD1; uncertain significance
- 504 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 508 R → C: in STGD1; uncertain significance; dbSNP:rs138157885
- 511 R → C: in STGD1; uncertain significance; dbSNP:rs752786160
- 519 modified: Disulfide link with 370; C → R: in STGD1; uncertain significance; dbSNP:rs1224959251
- 533:2273 natural variant: Missing (in STGD1; uncertain significance)
- 541 L → P: in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect intracellular vesicle localization; significantly reduces substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation; dbSNP:rs61751392
- 548 W → R: in STGD1; uncertain significance
- 552 V → I: in RP19; uncertain significance; dbSNP:rs145525174
- 572:2273 natural variant: Missing (in STGD1; uncertain significance)
- 576 D → H: found in a patient with pattern dystrophy; uncertain significance; dbSNP:rs374224955
- 593 P → L: in STGD1; uncertain significance
- 603 Y → C: in STGD1; uncertain significance
- 605:2273 natural variant: Missing (in CORD3; uncertain significance)
- 608 F → I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752398
- 616 E → K: in STGD1; uncertain significance; dbSNP:rs1557787473
- 636 Q → K: in CORD3; uncertain significance
- 639:2273 natural variant: Missing (in STGD1; uncertain significance)
- 640 P → L: in STGD1; uncertain significance; dbSNP:rs760790294
- 641 modified: Disulfide link with 1490, Interchain; C → S: in STGD1; uncertain significance; dbSNP:rs61749416
- 643 V → G: in CORD3; uncertain significance; dbSNP:rs61754024
- 653 R → C: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61749420; R → H: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs141823837
- 661 L → R: in CORD3; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
- 681:2273 natural variant: Missing (found in a patient with macular dystrophy; uncertain significance)
- 686 L → S: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752402
- 690 G → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; very low substrate binding
- 700:2273 natural variant: Missing (in STGD1; uncertain significance)
- 716 T → M: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749426
- 754 F → S: in STGD1; uncertain significance
- 764 C → Y: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749428
- 765 S → N: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749429; S → R: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752404
- 767 V → D: in STGD1; also found in a patient with macular dystrophy; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61751395
- 779:2273 natural variant: Missing (in STGD1; uncertain significance)
- 782:2273 natural variant: Missing (in STGD1; uncertain significance)
- 797 L → P: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749432
- 808:2273 natural variant: Missing (in STGD1; uncertain significance)
- 816 G → V: in STGD1; uncertain significance
- 818 G → E: in STGD1; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61750202
- 821 W → R: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61749433
- 824 I → T: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding
- 840 M → R: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
- 846 D → H: severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61754027
- 849 V → A: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749435
- 851 G → D: in STGD1; highly reduced ATP-binding capacity; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749436
- 854 A → T: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749437
- 863 G → A: in STGD1, FFM and CORD3; also found in a patient with bull's eye maculopathy; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis; significantly attenuates 11-cis-retinal binding; decreases about 80% the N-retinylidene-phosphatidylethanolamine transport activity; stimulates modestely the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding. Does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity; dbSNP:rs76157638; natural variant: Missing (in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis)
- 876:2273 natural variant: Missing (in STGD1; uncertain significance)
- 901 T → A: in dbSNP:rs61754030
- 914 natural variant: H -> R
- 940 P→R: Decreases 11-cis-Retinal binding affinity by 50%.
- 943 R → Q: risk factor for STGD1; risk factor for ARMD2; decreases 11-cis-Retinal binding affinity by 100-fold; dbSNP:rs1801581; R → W: in STGD1 and FFM; dbSNP:rs61749446
- 1029:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1099:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1145 L → H: in CORD3; uncertain significance
- 1148 natural variant: K -> T
- 1159 L → S: in STGD1; uncertain significance; dbSNP:rs1340749727
- 1161 R → H: in STGD1; uncertain significance; dbSNP:rs768278935
- 1177:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1183 G → C: in CORD3; uncertain significance; dbSNP:rs75267647
- 1201 L → R: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs61750126
- 1203 G → E: in CORD3; uncertain significance; dbSNP:rs146786552; G → R: in STGD1; uncertain significance
- 1204 D → N: in STGD1; uncertain significance; dbSNP:rs61750127
- 1209 M → T: in dbSNP:rs76258939
- 1253 T → M: in FFM; uncertain significance; dbSNP:rs61752424
- 1300 R → Q: in STGD1; uncertain significance; dbSNP:rs61750129
- 1300:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs61752427)
- 1314 P → T: in dbSNP:rs61754041
- 1332:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1357 A→T: Decreases solubility at 50%. Loss of intracellular vesicle localization. Does not affect substrate binding. Reduces basal ATPase activity.
- 1368 R → C: in CORD3; uncertain significance; dbSNP:rs1183074086
- 1371 K → N: in STGD1; uncertain significance
- 1380 P → L: in STGD1; also found in a patient with chorioretinal atrophy; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61750130
- 1399 E → K: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs62642573
- 1408 W → L: in STGD1; does not affect secondary structure; decreases structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750134; W → R: in STGD1; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750135
- 1408:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1416 natural variant: Missing (in STGD1; uncertain significance)
- 1428 T → M: in dbSNP:rs1800549
- 1442 N → K: in STGD1; uncertain significance; dbSNP:rs762150575
- 1443 R → H: in STGD1; loss of the majority of alpha-helical secondary structure; does not bind all-trans-retinal; does not affect conformational change; dbSNP:rs61750142
- 1444 modified: Disulfide link with 1455
- 1453:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1455 modified: Disulfide link with 1444
- 1461:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1469 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1479:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61752434)
- 1484 P → S: in STGD1; uncertain significance
- 1488 modified: Disulfide link with 1502; C → R: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; does not affect secondary structure; oss of structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750146
- 1490 modified: Disulfide link with 641, Interchain; C → Y: in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61751402
- 1502 modified: Disulfide link with 1488; C→R: Moderately decreased protein abundance. Moderately decreased ATPase activity. Moderately decreased phospholipid translocase activity.
- 1503 P → L: in STGD1; uncertain significance
- 1511 P → H: in STGD1; uncertain significance; dbSNP:rs886046564
- 1512 P → R: in STGD1; uncertain significance; dbSNP:rs61750150
- 1526 T → M: in STGD1; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750152
- 1529 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1537 T → M: in STGD1; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs62642575
- 1551 natural variant: Missing (in STGD1; uncertain significance)
- 1556 R → T: in STGD1; uncertain significance
- 1557 Y → C: found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs1401716074
- 1562 I → T: in STGD1, FFM, ARMD2 and CORD3; uncertain significance; dbSNP:rs1762111
- 1572 T → M: in dbSNP:rs185093512
- 1588 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1591 G → R: in STGD1; uncertain significance; also found in a patient with macular dystrophy; uncertain significance; dbSNP:rs113106943
- 1598 A → D: in CORD3 and STGD1; uncertain significance; dbSNP:rs61750155
- 1618:2273 natural variant: Missing
- 1623 G → V: in dbSNP:rs1571257969
- 1637 A → T: in dbSNP:rs61754056
- 1640 R → Q: in STGD1, FFM and CORD3; dbSNP:rs61751403; R → W: in STGD1 and CORD3; dbSNP:rs61751404
- 1650:2273 natural variant: Missing (in CORD3; uncertain significance)
- 1652:2273 natural variant: Missing (in STGD1 and FFM; uncertain significance)
- 1662 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1681:1685 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
- 1696 S → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs61750564
- 1703 Q → E: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs61750565; Q → K: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity
- 1705 R → L: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753021; R → Q: in STGD1; uncertain significance; dbSNP:rs61753021
- 1724:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1754 Y → D: in STGD1; uncertain significance
- 1761:1763 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
- 1762 A → D: in STGD1; uncertain significance; dbSNP:rs121909206
- 1773 A → E: found in a patient with chorioretinal atrophy; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; A → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs760549861
- 1775 I → N: in STGD1; uncertain significance; dbSNP:rs771742619
- 1779 Y → H: in STGD1; uncertain significance
- 1779:2273 natural variant: Missing (in STGD1; uncertain significance)
- 1794 A → D: in STGD1; also found in a patient with bull's eye maculopathy; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs61751406; A → P: in STGD1; uncertain significance; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases solubility below 50%; significantly reduces N-Ret-PE binding in the absence of ATP; dbSNP:rs1571252997
- 1805 N → D: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753029
- 1817 natural variant: E -> D
- 1838 H → D: in STGD1; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases basal ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → Y: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs62642562; H→R: Severely decreases solubility. Loss of cytoplasmic vesicle localization. Decreases basal ATPase activity below 50%. Loss of N-Ret-PE-induced stimulation in ATPase activity.
- 1843 R → W: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; does not affect N-Ret-PE binding; dbSNP:rs62642576
- 1868 N → I: risk factor for STGD1; slightly reduced retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; does not affect N-Ret-PE binding; dbSNP:rs1801466
- 1882 M → I: in CORD3; uncertain significance; dbSNP:rs752160946
- 1886 G → E: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs62642579
- 1898 R → C: does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; dbSNP:rs201357151; R → H: in STGD1 and ARMD2; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; Increases N-Ret-PE binding; dbSNP:rs1800552
- 1921 V → G: in STGD1; uncertain significance
- 1940 L → P: in STGD1 and FFM; dbSNP:rs61753033
- 1942 E → Q: in STGD1; uncertain significance; dbSNP:rs760353830
- 1948 P → L: in dbSNP:rs56142141; natural variant: P -> S
- 1961 G → E: in STGD1, FFM and CORD3; risk factor for ARMD2; also found in patients with cone dystrophy and with macular dystrophy; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553; G → R: in STGD1; uncertain significance; dbSNP:rs142253670
- 1970 L → F: in ARMD2, FFM and STGD1; also found in a patient with cone dystrophy; dbSNP:rs28938473
- 1971 L → R: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis; dbSNP:rs61753034
- 1972:1980 binding
- 1975 G→D: Inhibition of retinal-stimulated ATP hydrolysis.
- 1977 G → S: in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750639
- 1978 K→M: Inhibits ATPase activity; when associated with M-969. Decreases translocase activity; when associated with M-969. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-969. Loss of ATP-dependent all-trans-retinal transport; when associated with M-1978. Loss in N-retinylidene-PE transfer activity. Inhibits ATPase activity with increasing retinal concentration. Does not affect ATP-independent N-retinylidene-PE binding. Does not affect ATP-dependent of N-retinylidene-PE release. Significantly reduces PE flippase activity. Inhibition of retinal-stimulated ATP hydrolysis.
- 2017 C → Y: in STGD1; uncertain significance
- 2023 I → T: in STGD1; uncertain significance; dbSNP:rs150633517
- 2027 L → F: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; highly reduced ATP-binding capacity; dbSNP:rs61751408
- 2030 R → Q: in STGD1 and FFM; dbSNP:rs61750641
- 2030:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61751383)
- 2032 H → R: in STGD1; uncertain significance; dbSNP:rs1242866408
- 2033 L → R: in STGD1; uncertain significance; dbSNP:rs1553186896
- 2038 R → W: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs61750643
- 2040 R → Q: in STGD1; uncertain significance; dbSNP:rs148460146
- 2040:2273 natural variant: Missing (in STGD1; uncertain significance; also found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs61753038)
- 2042 V → G: in STGD1; uncertain significance
- 2043 P → S: in CORD3; uncertain significance; dbSNP:rs763230559
- 2050 V → L: in STGD1 and CORD3; may act as a modifier of macular dystrophy in patients who also have a Trp-172 mutation in PRPH2; dbSNP:rs41292677
- 2059 natural variant: G -> A
- 2064 A → T: in STGD1; uncertain significance; dbSNP:rs61753040
- 2073:2074 binding
- 2074 G → V: in STGD1; uncertain significance; dbSNP:rs367839100
- 2077 R → W: in STGD1; highly reduced ATP-binding capacity; decreases solubility at 50 %; loss of intracellular vesicle localization; drastically reduced basal activity with little or no substrate stimulation; dbSNP:rs61750645
- 2078 K → E: in STGD1; uncertain significance
- 2096 E → K: in STGD1; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750646; E→Q: Does not affect protein folding; when associated with Q-1087. Loss of ATPase activity; when associated with Q-1087.
- 2097 P → S: in STGD1; uncertain significance; dbSNP:rs1166357291
- 2106 R → C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750648
- 2107 R → C: in STGD1; uncertain significance; dbSNP:rs2297669; R → H: in STGD1 and CORD3; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs62642564; R→P: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
- 2131 E → K: in STGD1; uncertain significance; dbSNP:rs61750652
- 2140 L → Q: in STGD1; uncertain significance; dbSNP:rs774475956
- 2150 C → Y: in STGD1 and CORD3; dbSNP:rs61751384
- 2177 D → N: in CORD3, ARMD2 and STGD1; uncertain significance; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555
- 2180 P→L: Does not affect protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
- 2188 F → S: in STGD1; uncertain significance; dbSNP:rs61750658
- 2216 A → V: in dbSNP:rs886044763
- 2221 L → P: in STGD1; uncertain significance
- 2237 T → P: in STGD1; uncertain significance
- 2244:2249 Essential for ATP binding and ATPase activity
- 2255 S → I: in dbSNP:rs6666652
8f5bA Human abca4 structure in complex with amp-pnp
40% identity, 34% coverage: 25:224/587 of query aligns to 737:936/1924 of 8f5bA
Sites not aligning to the query:
Q8IUA7 ATP-binding cassette sub-family A member 9; EC 7.6.2.- from Homo sapiens (Human) (see 2 papers)
36% identity, 39% coverage: 327:555/587 of query aligns to 1289:1511/1624 of Q8IUA7
- K1306 (≠ F348) to T: in dbSNP:rs2302294
Sites not aligning to the query:
- 353 R → H: in dbSNP:rs1860447
- 949 modified: carbohydrate, N-linked (GlcNAc...) asparagine
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)
40% identity, 34% coverage: 25:224/587 of query aligns to 945:1144/2281 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
7lkzA Structure of atp-bound human abca4 (see paper)
39% identity, 34% coverage: 25:224/587 of query aligns to 725:924/1920 of 7lkzA
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: 718, 1619, 1646, 1647, 1649, 1650, 1651, 1652, 1742, 1744, 1745
7e7qA Cryo-em structure of human abca4 in atp-bound state (see paper)
39% identity, 34% coverage: 25:224/587 of query aligns to 808:1007/1958 of 7e7qA
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 801, 804, 1671, 1698, 1701, 1702, 1703, 1704, 1743, 1794, 1796
- binding magnesium ion: 1703, 1743
Q99758 Phospholipid-transporting ATPase ABCA3; ABC-C transporter; ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; ATP-binding cassette 3; Xenobiotic-transporting ATPase ABCA3; EC 7.6.2.1; EC 7.6.2.2 from Homo sapiens (Human) (see 15 papers)
33% identity, 40% coverage: 350:585/587 of query aligns to 1398:1645/1704 of Q99758
- L1553 (≠ F505) to P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs121909183
- L1580 (≠ Y531) to P: in SMDP3; does not affect location in intracellular vesicle membrane; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; affects the intracellular vesicles development; decreases phosphatidylcholine transport; mutation to A: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; mutation to F: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; mutation to V: Decreases ATP hydrolysis activity of 56% compared to the wild-type.
- Q1591 (≠ K542) to P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs28936691
Sites not aligning to the query:
- 43 R → L: in SMDP3; uncertain significance
- 53 N→Q: Does not affect N-glycosylation. Does not affect protein expression. Does not affect lamellar body membrane location.
- 101 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; dbSNP:rs121909182
- 124 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→Q: Loss of N-glycosylation. Reduces protein expression by 50%. Affects anterograde trafficking; when associated with Q-140. Reduces protein expression by 85%; when associated with Q-140. Does not affect lamellar body membrane location.
- 140 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → H: in dbSNP:rs45447801; N→Q: Loss of N-glycosylation. Reduces protein expression by 50%. Affects anterograde trafficking; when associated with Q-124. Reduces protein expression by 85%; when associated with Q-140. Does not affect lamellar body membrane location.
- 173:174 LK→AA: Loss of proteolytic processing.
- 174:175 Cleavage; by CTSL
- 215 Q → K: in SMDP3; loss of lamellar bodies membrane location; loss of proteolytic cleavage; increases cellular free cholesterol and phosphatidylcholine transport; loss of vesicles formation; increases free cholesterol induced cell death; loss of protein oligomerization; dbSNP:rs879159551
- 280 R → C: in SMDP3; uncertain significance; does not affect protein oligomerization; dbSNP:rs201299260
- 288 R → K: in SMDP3; uncertain significance; does not affect protein oligomerization; dbSNP:rs117603931
- 290 L → M: in a breast cancer sample; somatic mutation
- 292 E → V: in SMDP3; uncertain significance; does not affect lamellar bodies membrane location; does not affect proteolytic cleavage; affects lamellar bodies formation; does not affect cholesterol and phosphatidylcholine transport; decreases vesicles formation; does not affect free cholesterol induced cell death; dbSNP:rs149989682
- 568 N → D: in SMDP3; does not affect location in intracellular vesicle membrane; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; does not affect protein expression; does not affect multivesicular bodies and lamellar bodies location; affects multivesicular bodies and lamellar bodies development; loss of phosphatidylcholine transport; does not affect cholesterol transport; dbSNP:rs121909184
- 579 L → P: in SMDP3; uncertain significance
- 605 R → Q: in SMDP3; uncertain significance; dbSNP:rs760006956
- 693 S→L: Does not affect protein oligomerization.
- 766 P → S: in dbSNP:rs45592239
- 801 E → D: in a breast cancer sample; somatic mutation
- 945 N→Q: Does not affect lamellar body membrane location. Does not affect protein expression. Does not affect proteolytic processing.
- 982 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs1402761450
- 1069 H → Q: in a breast cancer sample; somatic mutation
- 1076 N → K: in SMDP3; uncertain significance
- 1221 G → S: in SMDP3; does not affect intracellular vesicle membrane location; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; G→A: Decreases ATP hydrolysis activity of 15% compared to the wild-type.; G→T: Decreases ATP hydrolysis activity of 36% compared to the wild-type.; G→V: Decreases ATP hydrolysis activity of 18% compared to the wild-type.
- 1302 G → E: in SMDP3; uncertain significance
- 1388 K → N: in SMDP3; decreases phosphatidylcholine transport; increases protein abundance; does not affect folding in the endoplasmic reticulum; decreases proteolytic processing; affects lamellar bodies development; reduces free cholesterol transport
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)
33% identity, 38% coverage: 8:231/587 of query aligns to 2050:2276/2435 of Q9BZC7
Sites not aligning to the query:
- 271 modified: N5-methylglutamine; Q→R: Abolishes methylation by N6AMT1.
Q8N139 ATP-binding cassette sub-family A member 6; EC 7.6.2.- from Homo sapiens (Human) (see 2 papers)
34% identity, 39% coverage: 327:553/587 of query aligns to 1283:1501/1617 of Q8N139
- N1322 (= N370) to S: in dbSNP:rs2302134
Sites not aligning to the query:
- 282 V → I: in dbSNP:rs4968839
- 875 M → I: in dbSNP:rs7212506
- 940 modified: carbohydrate, N-linked (GlcNAc...) asparagine
7m1qA Human abca4 structure in complex with n-ret-pe (see paper)
40% identity, 33% coverage: 29:224/587 of query aligns to 825:1020/1911 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
P55339 ABC-type transporter ATP-binding protein EcsA from Bacillus subtilis (strain 168) (see paper)
29% identity, 41% coverage: 335:575/587 of query aligns to 3:241/247 of P55339
- G164 (= G496) mutation to E: In ecsA-26; exoamylase and other exoenzymes decrease, competence- and sporulation-deficient phenotype.
P34358 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans (see 2 papers)
32% identity, 45% coverage: 8:274/587 of query aligns to 546:818/1704 of P34358
- K586 (= K49) mutation to R: Cell corpses not engulfed.
- E639 (= E102) 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_2556 Ga0059261_2556 ABC-type multidrug transport system, ATPase component
MTDLQNAIVFENLFRCFGKNDEVVAIDDLSASIKTGIITGLVGPDGAGKTTLIRMIAGLL
TPTRGKLTVNDLEPASQGDALRQQLGYMPQRFGLYEDLTVLENLTLYSDLRGVDPAKRAD
MFERMLEFTDLKRFTERRAGKLSGGMKQKLGLACTLLGDPQVLLLDEPSVGVDPISRREL
WKMVGDLAGEGKTIIWSTAYLDEAERCPEVILLDHGKPLYCGSPDELAERMQGRSRLIRN
ITGNRRQVLKHALKSDKVQDGVIQGRAVRVVLKDRNDPLDLAEAEAGDGATLEEVKPRLE
DAVIDLLGGGPGGESVVAKLLQDAGQREEAAGEVVIEAKHLTKRFGDFAATDDVSFDVKR
GEIYGLLGPNGAGKSTTFKMLCGLLVPSSGDANVLGYSLKRSPGDARQRLGYMAQKFSLY
GTLSVRQNMEFFAGIYGLDGSDRRERIDAMIDAFALKPYLAMSPDALPLGFKQRLALACA
IMHDPAILFLDEPTSGVDPLTRREFWTHINGVVEKGVTVMVTTHFMDEAEYCDRIGLIYR
GKLIASGAPDDLRAEAATEDDDDPSMEDAFIELVERADRADDERQAA
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