InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCG5

Summary

InnateDB Protein

IDBP-49232.6

Last Modified

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

Gene Symbol

ABCG5

Protein Name

ATP-binding cassette, sub-family G (WHITE), member 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000260645

InnateDB Gene

IDBG-49230 (ABCG5)

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

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:11138003, ECO:0000269PubMed:11452359, ECO:0000269PubMed:11668628}. 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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
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: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:0010212	response to ionizing radiation
GO:0010949	negative regulation of intestinal phytosterol absorption
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

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0045177	apical part of cell

Protein Structure and Domains

PDB ID

InterPro

IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR013525 ABC-2 type transporter
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00005
PF01061

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9H222