Protein ABCA1

URN	urn:agi-llid:19
Name	ABCA1
Description	ATP-binding cassette, sub-family A (ABC1), member 1
Connectivity	337
Notes	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 this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency.

Cell Localization	Plasma membrane

Pathway	Cardiovascular Disease (Large)
	Figure 3 CAR 2009
	PPARbeta BCL6 Targets
	PPARG Targets
	FXR Targets
	Toxicology Array
	New Pathway
	PPARalpha Pathway

Ariadne Ontology	Cholesterol export

Mouse chromosome position	4 23.1 cM

GO Molecular Function	protein binding
	nucleotide binding
	phospholipid binding
	cholesterol binding
	ATP binding
	apolipoprotein A-I receptor activity
	small GTPase binding
	high-density lipoprotein binding
	syntaxin-13 binding
	ATPase activity, coupled to transmembrane movement of substances
	nucleoside-triphosphatase activity
	ATPase activity
	phospholipid transporter activity
	cholesterol transporter activity
	anion transmembrane transporter activity

Homologene ID	21130

Hugo ID	29

GO Cellular Component	membrane
	membrane fraction
	Golgi apparatus
	phagocytic vesicle
	intracellular membrane-bounded organelle
	plasma membrane
	membrane raft
	integral to membrane
	integral to plasma membrane

MGI ID	99607

Human chromosome position	9q31.1

GO Biological Process	positive regulation of cAMP biosynthetic process
	positive regulation of lipid metabolic process
	G-protein coupled receptor protein signaling pathway
	Cdc42 protein signal transduction
	phospholipid homeostasis
	cholesterol homeostasis
	phospholipid translocation
	phagocytosis, engulfment
	lysosome organization
	platelet dense granule organization
	foam cell differentiation
	endosome transport
	intracellular cholesterol transport
	interleukin-1 beta secretion
	cholesterol metabolic process
	steroid metabolic process
	lipoprotein biosynthetic process
	protein amino acid lipidation
	lipoprotein metabolic process
	transport
	phospholipid transport
	phospholipid efflux
	cholesterol transport
	cholesterol efflux
	reverse cholesterol transport
	peptide secretion
	response to drug
	response to nutrient

Rat chromosome position	5q24

Group	Cholesterol export
	membrane
	membrane fraction
	Golgi apparatus
	phagocytic vesicle
	intracellular membrane-bounded organelle
	plasma membrane
	membrane raft
	integral to membrane
	integral to plasma membrane
	protein binding
	nucleotide binding
	phospholipid binding
	cholesterol binding
	ATP binding
	apolipoprotein A-I receptor activity
	small GTPase binding
	high-density lipoprotein binding
	syntaxin-13 binding
	ATPase activity, coupled to transmembrane movement of substances
	nucleoside-triphosphatase activity
	ATPase activity
	phospholipid transporter activity
	cholesterol transporter activity
	anion transmembrane transporter activity
	positive regulation of cAMP biosynthetic process
	positive regulation of lipid metabolic process
	G-protein coupled receptor protein signaling pathway
	Cdc42 protein signal transduction
	phospholipid homeostasis
	cholesterol homeostasis
	phospholipid translocation
	phagocytosis, engulfment
	lysosome organization
	platelet dense granule organization
	foam cell differentiation
	endosome transport
	intracellular cholesterol transport
	interleukin-1 beta secretion
	cholesterol metabolic process
	steroid metabolic process
	lipoprotein biosynthetic process
	protein amino acid lipidation
	lipoprotein metabolic process
	transport
	phospholipid transport
	phospholipid efflux
	cholesterol transport
	cholesterol efflux
	reverse cholesterol transport
	peptide secretion
	response to drug
	response to nutrient

RGD ID	631344

Alias	TGD
	ABC1
	CERP
	ABC-1
	HDLDT1
	FLJ14958
	MGC164864
	MGC165011
	ATP-binding cassette, sub-family A member 1
	membrane-bound
	OTTHUMP00000021833
	ATP-binding cassette 1
	ATP binding cassette transporter 1
	ATP-binding cassette transporter A1
	cholesterol efflux regulatory protein
	RP23-95M14.8
	ATP-binding cassette 1, sub-family A, member 1
	OTTMUSP00000007567
	ATP-binding cassette, sub-family A (ABC1), member 1
	ATP-binding cassette, sub-family A (ABC1), member I
	ATP-binding cassette transporter I
	ABC I
	Abca I
	high density lipoprotein deficiency, Tangier type, I
	Abca1
	high density lipoprotein deficiency, Tangier type, 1
	ATP-binding cassette transporter 1
	HDLDT I
	ATP-binding cassette, sub-family A member I
	ATP-binding cassette I
	Cholesterol efflux regulatory protein
	high density lipoprotein deficiency, Tangier type
	Tangier disease gene
	Tangier disease protein
	HDLDT1s
	ATP-binding cassette transporter-1
	HDLDT Is