InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ABCG8

Summary

InnateDB Gene

IDBG-49307.6

Last Modified

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

Gene Symbol

ABCG8

Gene Name

ATP-binding cassette, sub-family G (WHITE), member 8

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000143921

Encoded Proteins

IDBP-49311

ATP-binding cassette, sub-family G (WHITE), member 8

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:43838964-43878466

Strand

Forward strand

Band

p21

Transcripts

ENST00000272286

ENSP00000272286

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0015248	sterol transporter activity
GO:0016887	ATPase activity
GO:0017127	cholesterol transporter activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0006200	ATP catabolic process
GO:0007584	response to nutrient
GO:0007588	excretion
GO:0010949	negative regulation of intestinal phytosterol absorption
GO:0015914	phospholipid transport
GO:0015918	sterol transport
GO:0030299	intestinal cholesterol absorption
GO:0033344	cholesterol efflux
GO:0042493	response to drug
GO:0042632	cholesterol homeostasis
GO:0044281	small molecule metabolic process
GO:0045796	negative regulation of intestinal cholesterol absorption
GO:0055085	transmembrane transport
GO:0055092	sterol homeostasis

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000024254

View Gene Order

ENSBTAG00000016366

Not yet available

Pathways

NETPATH

REACTOME

REACT_111158

ABCA transporters in lipid homeostasis pathway

REACT_15480

ABC-family proteins mediated transport pathway

REACT_13781

Trafficking of dietary sterols pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_111217

Metabolism pathway

REACT_602

Lipid digestion, mobilization, and transport pathway

KEGG

hsa02010

ABC transporters pathway

hsa04975

Fat digestion and absorption pathway

hsa04976

Bile secretion pathway

INOH

PID NCI

Cross-References

SwissProt

Q9H221

TrEMBL

Q96A01

UniProt Splice Variant

Entrez Gene

64241

UniGene

Hs.413931

RefSeq

NM_022437 XM_005264483 XM_006712075

HUGO

HGNC:13887

OMIM

605460

CCDS

CCDS1815

HPRD

IMGT

EMBL

AC108476 AF320294 AF324494 AF351812 AF351813 AF351814 AF351815 AF351816 AF351817 AF351818 AF351819 AF351820 AF351821 AF351822 AF351823 AF351824 AF404106 AF404107

GenPept

AAG40004 AAK84078 AAK84663 AAK85386 AAK85389 AAY24011

RNA Seq Atlas

64241