SitesBLAST
Comparing Dsui_0724 FitnessBrowser__PS:Dsui_0724 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
40% identity, 97% coverage: 9:307/307 of query aligns to 5:280/285 of 4yerA
- binding adenosine-5'-diphosphate: F14 (≠ Y18), F17 (= F21), N39 (= N43), G40 (= G44), G42 (= G46), K43 (= K47), T44 (= T48), T45 (= T49), T135 (≠ S139), F136 (≠ L140), S137 (= S141)
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)
36% identity, 88% coverage: 8:276/307 of query aligns to 1380:1641/1704 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.
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)
36% identity, 88% coverage: 8:276/307 of query aligns to 1380:1641/1704 of Q99758
- K1388 (= K16) to 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
- L1553 (≠ I178) to P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs121909183
- L1580 (= L205) 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 (≠ R216) 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; dbSNP:rs2093663770
- 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; dbSNP:rs2093657978
8ee6A Cryo-em structure of human abca7 in pe/ch nanodiscs (see paper)
41% identity, 71% coverage: 9:226/307 of query aligns to 1498:1717/1808 of 8ee6A
Sites not aligning to the query:
8eopA Cryo-em structure of nanodisc reconstituted human abca7 eq mutant in atp bound closed state (see paper)
40% identity, 73% coverage: 9:232/307 of query aligns to 1452:1677/1687 of 8eopA
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 659, 662, 666, 686, 687, 689, 690, 691, 692, 782, 784
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)
40% identity, 70% coverage: 11:226/307 of query aligns to 2052:2272/2435 of Q9BZC7
Sites not aligning to the query:
- 271 modified: N5-methylglutamine; Q→R: Abolishes methylation by N6AMT1.
7w02A Cryo-em structure of atp-bound abca3 (see paper)
39% identity, 71% coverage: 8:226/307 of query aligns to 1267:1482/1566 of 7w02A
- binding adenosine-5'-triphosphate: Y1277 (= Y18), N1305 (= N43), G1306 (= G44), A1307 (= A45), G1308 (= G46), K1309 (= K47), T1310 (= T48), Q1344 (= Q88), T1395 (≠ S139), G1398 (= G142)
- binding magnesium ion: T1310 (= T48), Q1344 (= Q88)
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 504, 533, 534, 536, 537, 538, 539, 578, 630, 631
- binding magnesium ion: 538, 578
P34358 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans (see 2 papers)
38% identity, 71% coverage: 9:226/307 of query aligns to 1379:1590/1704 of P34358
- K1417 (= K47) mutation to R: Some cell corpses not engulfed.
Sites not aligning to the query:
- 126 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 586 K→R: Cell corpses not engulfed.
- 639 E→G: Cell corpses not engulfed.
- 1012 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1045 modified: carbohydrate, N-linked (GlcNAc...) 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)
41% identity, 69% coverage: 11:222/307 of query aligns to 901:1114/2261 of O95477
- D917 (= D25) to Y: in a colorectal cancer sample; somatic mutation
- T929 (≠ F37) 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; dbSNP:rs1832457117
- N935 (= N43) to S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs28937313
- K939 (= K47) 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 (≠ T149) modified: Phosphoserine; by PKA
- P1065 (= P172) natural variant: P -> S
- M1091 (= M199) to T: in FHA1; loss of localization to plasma membrane; decreased cholesterol efflux; decreased phospholipid efflux
- C1110 (≠ I218) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1111.
- C1111 (≠ T219) 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; dbSNP:rs1831213945
- 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
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)
41% identity, 69% coverage: 11:222/307 of query aligns to 901:1114/2261 of P41233
Sites not aligning to the query:
- 489 modified: carbohydrate, N-linked (GlcNAc...) asparagine
7roqA Alternative structure of human abca1
40% identity, 66% coverage: 20:222/307 of query aligns to 783:984/1831 of 7roqA
Sites not aligning to the query:
7tbwA The structure of atp-bound abca1 (see paper)
40% identity, 69% coverage: 11:222/307 of query aligns to 756:969/1928 of 7tbwA
- binding adenosine-5'-triphosphate: Y763 (= Y18), D765 (= D20), K768 (≠ F21), N790 (= N43), G791 (= G44), G793 (= G46), K794 (= K47), T795 (= T48), Q835 (= Q88), Q887 (≠ S139), S889 (= S141), H944 (= H197)
- binding magnesium ion: Q835 (= Q88), D912 (= D164), Q913 (≠ E165)
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
7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
39% identity, 69% coverage: 11:223/307 of query aligns to 817:1023/2003 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
Q8IUA7 ATP-binding cassette sub-family A member 9; EC 7.6.2.- from Homo sapiens (Human) (see 2 papers)
39% identity, 66% coverage: 23:226/307 of query aligns to 1308:1508/1624 of Q8IUA7
Sites not aligning to the query:
- 353 R → H: in dbSNP:rs1860447
- 949 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 1306 K → T: in dbSNP:rs2302294
8f5bA Human abca4 structure in complex with amp-pnp (see paper)
38% identity, 66% coverage: 23:226/307 of query aligns to 1632:1835/1924 of 8f5bA
Sites not aligning to the query:
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)
38% identity, 66% coverage: 23:226/307 of query aligns to 1952:2155/2281 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
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)
39% identity, 65% coverage: 23:223/307 of query aligns to 945:1144/2273 of P78363