InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCG8

Summary

InnateDB Protein

IDBP-49311.6

Last Modified

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

Gene Symbol

ABCG8

Protein Name

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

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000272286

InnateDB Gene

IDBG-49307 (ABCG8)

Protein Structure

UniProt Annotation

Function

Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Gallbladder disease 4 (GBD4) [MIM:611465]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.Sitosterolemia (STSL) [MIM:210250]: Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. {ECO:0000269PubMed:11099417, ECO:0000269PubMed:11452359}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in the liver, lower levels in the small intestine and colon. Detectable in a wide variety of human tissues.

Comments

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