ABCA1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

ABCA1

Aliases

ABC-1, ABC1, CERP, HDLCQTL13, HDLDT1, HPALP1, TGD

Entrez Gene ID

Gene Name

ATP binding cassette subfamily A member 1

Chromosomal Location

9q31.1

HGNC ID

HGNC:29

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

RefSeq DNA

NG_007981.1

RefSeq mRNA

NM_005502.4

e!Ensembl

Gene	ENSG00000165029
Transcript	ENST00000374736, ENST00000423487, ENST00000374733
Protein	ENSP00000363868, ENSP00000416623, ENSP00000363865

Gene Ontology (GO)

Show/Hide all(56 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006869	Biological process	Lipid transport	IBA	21873635
GO:0007040	Biological process	Lysosome organization	IDA	15163665
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IMP	16443932
GO:0007189	Biological process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	14701824
GO:0008203	Biological process	Cholesterol metabolic process	IDA	14747463
GO:0010745	Biological process	Negative regulation of macrophage derived foam cell differentiation	TAS	18490524
GO:0010875	Biological process	Positive regulation of cholesterol efflux	IMP	25084135
GO:0010887	Biological process	Negative regulation of cholesterol storage	TAS	18490524
GO:0016197	Biological process	Endosomal transport	IDA	14747463
GO:0032367	Biological process	Intracellular cholesterol transport	IMP	10431236
GO:0032489	Biological process	Regulation of Cdc42 protein signal transduction	IMP	16443932
GO:0033344	Biological process	Cholesterol efflux	IDA	10431236, 11162594, 23931754
GO:0033344	Biological process	Cholesterol efflux	IMP	16443932
GO:0033700	Biological process	Phospholipid efflux	IBA	21873635
GO:0033700	Biological process	Phospholipid efflux	IDA	10431236, 11162594
GO:0033700	Biological process	Phospholipid efflux	IMP	16702602
GO:0034380	Biological process	High-density lipoprotein particle assembly	IMP	10431236, 14754908, 17305370
GO:0034616	Biological process	Response to laminar fluid shear stress	IEP	15358760
GO:0042632	Biological process	Cholesterol homeostasis	IDA	10431236
GO:0042632	Biological process	Cholesterol homeostasis	TAS	24097981
GO:0043691	Biological process	Reverse cholesterol transport	IMP	10431236
GO:0045332	Biological process	Phospholipid translocation	IDA	24097981
GO:0050702	Biological process	Interleukin-1 beta secretion	IMP	11855831
GO:0055091	Biological process	Phospholipid homeostasis	IMP	16702602
GO:0060155	Biological process	Platelet dense granule organization	IMP	15163665
GO:0071404	Biological process	Cellular response to low-density lipoprotein particle stimulus	IEP	15358760
GO:0090107	Biological process	Regulation of high-density lipoprotein particle assembly	TAS	24097981
GO:0005768	Cellular component	Endosome	IDA	24097981
GO:0005886	Cellular component	Plasma membrane	IDA	23931754, 24097981
GO:0005887	Cellular component	Integral component of plasma membrane	IDA	10525055
GO:0030139	Cellular component	Endocytic vesicle	IDA	14747463
GO:0043231	Cellular component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045121	Cellular component	Membrane raft	IDA	15469992
GO:0045335	Cellular component	Phagocytic vesicle	IDA	15469992
GO:0048471	Cellular component	Perinuclear region of cytoplasm	IDA	23931754
GO:0005102	Molecular function	Signaling receptor binding	IPI	23931754
GO:0005319	Molecular function	Lipid transporter activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	12084722, 14754908, 15469992, 16192269, 16443932, 23931754, 25170080
GO:0005524	Molecular function	ATP binding	IDA	11700048
GO:0005543	Molecular function	Phospholipid binding	IC	16702602
GO:0005548	Molecular function	Phospholipid transporter activity	IDA	16702602
GO:0015485	Molecular function	Cholesterol binding	IC	12084722
GO:0016887	Molecular function	ATPase activity	IDA	24097981
GO:0019905	Molecular function	Syntaxin binding	IPI	15469992
GO:0031267	Molecular function	Small GTPase binding	IPI	16443932
GO:0034185	Molecular function	Apolipoprotein binding	IPI	11162594
GO:0034186	Molecular function	Apolipoprotein A-I binding	IPI	11162594, 16443932
GO:0034188	Molecular function	Apolipoprotein A-I receptor activity	IDA	16443932
GO:0042626	Molecular function	ATPase activity, coupled to transmembrane movement of substances	IBA	21873635
GO:0051117	Molecular function	ATPase binding	IPI	23931754
GO:0090554	Molecular function	Phosphatidylcholine-translocating ATPase activity	IBA	21873635
GO:0090554	Molecular function	Phosphatidylcholine-translocating ATPase activity	IDA	24097981
GO:0090556	Molecular function	Phosphatidylserine-translocating ATPase activity	IBA	21873635
GO:0090556	Molecular function	Phosphatidylserine-translocating ATPase activity	IDA	24097981
GO:0120020	Molecular function	Intermembrane cholesterol transfer activity	IBA	21873635
GO:0120020	Molecular function	Intermembrane cholesterol transfer activity	IDA	12084722

Protein Information

Protein Name

Phospholipid-transporting ATPase ABCA1, ATP-binding cassette sub-family A member 1, ATP-binding cassette transporter A1, ATP-binding cassette, sub-family A (ABC1), member 1, cholesterol efflux regulatory protein, membrane-bound

Function

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Thereby, participates to phospholipids transfer to apoliproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apoliproteins and the formation of nascent high density lipoproteins/HDLs

Refseq Proteins

NP_005493.2

UniProt

O95477

PDB

5XJY