InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCA1

Summary

InnateDB Protein

IDBP-79443.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCA1

Protein Name

ATP-binding cassette, sub-family A (ABC1), member 1

Synonyms

ABC-1; ABC1; CERP; HDLDT1; TGD;

Species

Homo sapiens

Ensembl Protein

ENSP00000363868

InnateDB Gene

IDBG-79441 (ABCA1)

Protein Structure

UniProt Annotation

Function

cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.

Subcellular Localization

Membrane {ECO:0000269PubMed:19258317, ECO:0000269PubMed:19556522}; Multi-pass membrane protein {ECO:0000269PubMed:19258317, ECO:0000269PubMed:19556522}.

Disease Associations

High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. {ECO:0000269PubMed:10431236, ECO:0000269PubMed:10431237, ECO:0000269PubMed:10706591, ECO:0000269PubMed:10938021, ECO:0000269PubMed:11086027, ECO:0000269PubMed:11257260, ECO:0000269PubMed:11476961, ECO:0000269PubMed:11476965, ECO:0000269PubMed:11785958, ECO:0000269PubMed:12111371, ECO:0000269PubMed:12111381, ECO:0000269PubMed:12407001, ECO:0000269PubMed:14576201, ECO:0000269PubMed:15019541, ECO:0000269PubMed:15158913, ECO:0000269PubMed:15262183, ECO:0000269PubMed:15297675, ECO:0000269PubMed:15520867}. Note=The disease is caused by mutations affecting the gene represented in this entry.High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. {ECO:0000269PubMed:10431236, ECO:0000269PubMed:10533863, ECO:0000269PubMed:10938021, ECO:0000269PubMed:11086027, ECO:0000269PubMed:12009425, ECO:0000269PubMed:12204794, ECO:0000269PubMed:15722566}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, but most abundant in macrophages.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	44 [view]
Protein-Protein	42 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005543	phospholipid binding
GO:0005548	phospholipid transporter activity
GO:0008509	anion transmembrane transporter activity
GO:0015485	cholesterol binding
GO:0016887	ATPase activity
GO:0017127	cholesterol transporter activity
GO:0019905	syntaxin binding
GO:0031267	small GTPase binding
GO:0034185	apolipoprotein binding
GO:0034186	apolipoprotein A-I binding
GO:0034188	apolipoprotein A-I receptor activity
GO:0051117	ATPase binding

Biological Process

GO:0002790	peptide secretion
GO:0006200	ATP catabolic process
GO:0006497	protein lipidation
GO:0006911	phagocytosis, engulfment
GO:0007040	lysosome organization
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007584	response to nutrient
GO:0008203	cholesterol metabolic process
GO:0010745	negative regulation of macrophage derived foam cell differentiation
GO:0010875	positive regulation of cholesterol efflux
GO:0010887	negative regulation of cholesterol storage
GO:0015914	phospholipid transport
GO:0016197	endosomal transport
GO:0030301	cholesterol transport
GO:0030819	positive regulation of cAMP biosynthetic process
GO:0032367	intracellular cholesterol transport
GO:0032489	regulation of Cdc42 protein signal transduction
GO:0033344	cholesterol efflux
GO:0033700	phospholipid efflux
GO:0034380	high-density lipoprotein particle assembly
GO:0034616	response to laminar fluid shear stress
GO:0038027	apolipoprotein A-I-mediated signaling pathway
GO:0042157	lipoprotein metabolic process
GO:0042158	lipoprotein biosynthetic process
GO:0042493	response to drug
GO:0042632	cholesterol homeostasis
GO:0043691	reverse cholesterol transport
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0045087	innate immune response (InnateDB)
GO:0045332	phospholipid translocation
GO:0050702	interleukin-1 beta secretion
GO:0055091	phospholipid homeostasis
GO:0055098	response to low-density lipoprotein particle stimulus
GO:0060155	platelet dense granule organization
GO:0071222	cellular response to lipopolysaccharide
GO:0071300	cellular response to retinoic acid
GO:0071397	cellular response to cholesterol

Cellular Component

GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009897	external side of plasma membrane
GO:0009986	cell surface
GO:0030139	endocytic vesicle
GO:0034364	high-density lipoprotein particle
GO:0043231	intracellular membrane-bounded organelle
GO:0045121	membrane raft
GO:0045335	phagocytic vesicle
GO:0048471	perinuclear region of cytoplasm