Protein Domain : IPR030365

Type:  Family Name:  ATP-binding cassette subfamily A member 1
Description:  Members of ABC (ATP-binding cassette) transporter subfamily A are full-length transporters [], which consist of a single long polypeptide chain organised into two tandemly arranged halves. Each half contains a membrane-spanning domain (MSD) followed by a cytoplasmic nucleotide binding domain (NBD) []. ATP-binding cassette sub-family A member 1 (ABCA1) interacts with apo-A1, an extracellular lipid acceptor in the plasma [, ]. ABCA1 is involved in cholesterol efflux from peripheral tissues in a process known as the reverse cholesterol transport (RCT). Mutations in the ABCA1 gene cause Tangier disease, which is an autosomal recessive disorder characterised by a severe reduction in the amount of high density lipoprotein (HDL) in the bloodstream []. Mutations in the ABCA1 gene also cause a defect in the clearance of apoptotic cells by macrophages [, ]. Short Name:  ABCA1

0 Child Features

0 Contains

1 Cross References

Identifier
PTHR19229:SF34

0 Found In

6 GO Annotations

GO Term Gene Name
GO:0005215 IPR030365
GO:0034186 IPR030365
GO:0006911 IPR030365
GO:0033344 IPR030365
GO:0043691 IPR030365
GO:0005887 IPR030365

6 Ontology Annotations

GO Term Gene Name
GO:0005215 IPR030365
GO:0034186 IPR030365
GO:0006911 IPR030365
GO:0033344 IPR030365
GO:0043691 IPR030365
GO:0005887 IPR030365

1 Parent Features

DB identifier Type Name
IPR026082 Family ABC transporter A, ABCA

0 Proteins

7 Publications

First Author Title Year Journal Volume Pages PubMed ID
            11320094
            23103747
            10431237
            10878804
            14967052
            14660648
            17710129