ABCG5

ABCG5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5DO7
Identifiers
Aliases	ABCG5, STSL, ATP binding cassette subfamily G member 5, STSL2
External IDs	OMIM: 605459 MGI: 1351659 HomoloGene: 31909 GeneCards: ABCG5
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p21 Start 43,812,472 bp[1] End 43,838,865 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 E4|17 55.02 cM Start 84,965,662 bp[2] End 84,990,439 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa right lobe of liver duodenum gallbladder prefrontal cortex Brodmann area 9 islet of Langerhans kidney kidney cingulate gyrus Top expressed in intestinal villus jejunum duodenum ileum crypt of lieberkuhn of small intestine left lobe of liver Paneth cell left colon iris medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ATPase activity protein binding ATP binding cholesterol transfer activity protein heterodimerization activity ATPase-coupled transmembrane transporter activity metal ion binding xenobiotic transmembrane transporter activity Cellular component integral component of membrane membrane ATP-binding cassette (ABC) transporter complex receptor complex apical part of cell plasma membrane integral component of plasma membrane apical plasma membrane Biological process response to ionizing radiation excretion response to nutrient negative regulation of intestinal phytosterol absorption intestinal cholesterol absorption negative regulation of intestinal cholesterol absorption cholesterol homeostasis xenobiotic transmembrane transport lipid transport cholesterol efflux transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64240 27409 Ensembl ENSG00000138075 ENSMUSG00000040505 UniProt Q9H222 Q99PE8 RefSeq (mRNA) NM_022436 NM_031884 RefSeq (protein) NP_071881 NP_114090 Location (UCSC) Chr 2: 43.81 – 43.84 Mb Chr 17: 84.97 – 84.99 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene.^[5][6][7]

Function

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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.^[7]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles. ^{[§ 1]}

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|alt=Statin pathway edit]]

Statin pathway edit

1. ^ The interactive pathway map can be edited at WikiPathways: "Statin_Pathway_WP430".

See also

• ABCG5 and ABCG8 Genes

References

Further reading

External links

• ABCG5+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ABCG5 genome location and ABCG5 gene details page in the UCSC Genome Browser.