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ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; ATP-binding cassette 3; ABC-C transporter (ABCA3, ABC3)
Function:
- role in the formation of pulmonary surfactant, probably by transporting lipids including as cholesterol
Structure:
- multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain & an ATP binding cassette domain (ABC domain) (putative)
- belongs to the ABC transporter family, ABCA subfamily contains 2 ABC transporter domains
Compartment: membrane (putative)
Expression:
- expressed in lung > brain, pancreas, skeletal muscle & heart > placenta, kidney & liver
- expressed in calcitonin-secreting C-cells of the thyroid & in medullary thyroid carcinoma
Pathology:
- defects in ABCA3 are the cause of pulmonary alveolar proteinosis
General
ATP-binding cassette sub-family A (ABC transporter-A, ABCA)
phosphoprotein
Properties
SIZE: entity length = 1704 aa
MW = 191 kD
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {22-42}
transmembrane domain {261-283}
transmembrane domain {307-327}
transmembrane domain {344-364}
transmembrane domain {373-393}
transmembrane domain {405-425}
transmembrane domain {447-467}
ABC transporter 1 {530-763}
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 566-573
transmembrane domain {925-945}
transmembrane domain {1100-1120}
transmembrane domain {1144-1164}
transmembrane domain {1183-1203}
transmembrane domain {1213-1233}
transmembrane domain {1245-1265}
MOTIF: Tyr phosphorylation site {Y1265}
Tyr phosphorylation site {Y1268}
transmembrane domain {1306-1326}
ABC transporter 2 {1381-1614}
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 1416-1423
Database Correlations
OMIM correlations
UniProt Q99758
Pfam PF00005
Entrez Gene 21
Kegg hsa:21
References
- UniProt :accession Q99758
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA3
- SeattleSNPs
http://pga.gs.washington.edu/data/abca3/