SitesBLAST
Comparing WP_036834324.1 NCBI__GCF_000775615.1:WP_036834324.1 to proteins with known functional sites using BLASTp with E ≤ 0.001.
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Found 20 (the maximum) hits to proteins with known functional sites (download)
4yerA Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution
39% identity, 98% coverage: 6:310/310 of query aligns to 9:280/285 of 4yerA
- binding adenosine-5'-diphosphate: F14 (= F11), F17 (≠ T14), N39 (= N36), G40 (= G37), G42 (= G39), K43 (= K40), T44 (≠ S41), T45 (= T42), T135 (≠ E132), F136 (≠ Y133), S137 (= S134)
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)
37% identity, 67% coverage: 16:222/310 of query aligns to 548:752/1704 of Q99758
- N568 (= N36) to 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
- L579 (≠ M47) to P: in SMDP3; uncertain significance
- R605 (= R73) to Q: in SMDP3; uncertain significance; dbSNP:rs760006956
- S693 (≠ V161) mutation to L: Does not affect protein oligomerization.
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
- 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
- 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
- 1553 L → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs121909183
- 1580 L → 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; L→A: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; L→F: Decreases ATP hydrolysis activity of 13% compared to the wild-type.; L→V: Decreases ATP hydrolysis activity of 56% compared to the wild-type.
- 1591 Q → P: in SMDP3; loss of intracellular vesicle membrane location; loss of proteolytic cleavage; does not affect N-glycosylation; dbSNP:rs28936691
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)
38% identity, 71% coverage: 6:226/310 of query aligns to 1385:1607/1704 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.
7w02A Cryo-em structure of atp-bound abca3 (see paper)
37% identity, 67% coverage: 16:222/310 of query aligns to 513:717/1566 of 7w02A
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 504, 1277, 1305, 1306, 1307, 1308, 1309, 1310, 1344, 1395, 1398
- binding magnesium ion: 1310, 1344
P34358 ABC transporter ced-7; Cell death protein 7 from Caenorhabditis elegans (see 2 papers)
33% identity, 74% coverage: 6:234/310 of query aligns to 1383:1604/1704 of P34358
- K1417 (= K40) 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
7roqA Alternative structure of human abca1
32% identity, 90% coverage: 27:306/310 of query aligns to 797:1082/1831 of 7roqA
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)
32% identity, 93% coverage: 16:303/310 of query aligns to 2272:2565/2595 of E9Q876
Sites not aligning to the query:
- 1388:1461 ISMLTGLFGATAGTIFVYGKDIKTDLNTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKTQLHEEVKR→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.
- 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.
7tbwA The structure of atp-bound abca1 (see paper)
30% identity, 93% coverage: 16:304/310 of query aligns to 770:1047/1928 of 7tbwA
- binding adenosine-5'-triphosphate: N790 (= N36), G791 (= G37), G793 (= G39), K794 (= K40), T795 (≠ S41), Q835 (= Q81), Q887 (≠ E132), S889 (= S134), H944 (= H191)
- binding magnesium ion: Q835 (= Q81), D912 (= D157), Q913 (≠ E158)
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 763, 765, 768, 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
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, 77% coverage: 1:239/310 of query aligns to 1935:2174/2281 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
7tbyA The structure of human abca1 in nanodisc (see paper)
31% identity, 90% coverage: 27:306/310 of query aligns to 708:985/1788 of 7tbyA
Sites not aligning to the query:
7e7qA Cryo-em structure of human abca4 in atp-bound state (see paper)
34% identity, 78% coverage: 1:241/310 of query aligns to 1661:1902/1958 of 7e7qA
Sites not aligning to the query:
- binding adenosine-5'-triphosphate: 801, 804, 808, 828, 831, 832, 833, 834, 873, 926, 928
- binding magnesium ion: 833, 873
8f5bA Human abca4 structure in complex with amp-pnp (see paper)
31% identity, 98% coverage: 1:304/310 of query aligns to 1615:1920/1924 of 8f5bA
Sites not aligning to the query:
P78363 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) (see 43 papers)
34% identity, 77% coverage: 1:239/310 of query aligns to 1937:2176/2273 of P78363