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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; OMA:ABCG5 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2p21 Start 43,812,472 bp End 43,838,865 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 E4|17 55.02 cM Start 84,965,662 bp End 84,990,439 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa right lobe of liver duodenum mucosa of ileum gallbladder gonad prefrontal cortex Brodmann area 9 islet of Langerhans kidney Top expressed in intestinal villus jejunum duodenum ileum epithelium of small intestine crypt of lieberkuhn of small intestine left lobe of liver choroidal fissure Paneth cell left colon 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
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.

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.

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.

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

See also

• ABCG5 and ABCG8 Genes

References

1. ^ GRCh38: Ensembl release 89: ENSG00000138075 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000040505 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (Dec 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science. 290 (5497): 1771–5. Bibcode:2000Sci...290.1771B. doi:10.1126/science.290.5497.1771. PMID 11099417.
6. Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB, Salen G, Dean M, Srivastava A, Patel SB (Aug 2001). "Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively". American Journal of Human Genetics. 69 (2): 278–90. doi:10.1086/321294. PMC 1201544. PMID 11452359.
7. ^ "Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)".

Further reading

• Schmitz G, Langmann T, Heimerl S (Oct 2001). "Role of ABCG1 and other ABCG family members in lipid metabolism". Journal of Lipid Research. 42 (10): 1513–20. doi:10.1016/S0022-2275(20)32205-7. PMID 11590207.
• Patel SB, Salen G, Hidaka H, Kwiterovich PO, Stalenhoef AF, Miettinen TA, Grundy SM, Lee MH, Rubenstein JS, Polymeropoulos MH, Brownstein MJ (Sep 1998). "Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21". The Journal of Clinical Investigation. 102 (5): 1041–4. doi:10.1172/JCI3963. PMC 508970. PMID 9727073.
• Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, Patel SB (Jan 2001). "Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption". Nature Genetics. 27 (1): 79–83. doi:10.1038/83799. PMC 1350991. PMID 11138003.
• Shulenin S, Schriml LM, Remaley AT, Fojo S, Brewer B, Allikmets R, Dean M (2001). "An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus". Cytogenetics and Cell Genetics. 92 (3–4): 204–8. doi:10.1159/000056903. PMID 11435688. S2CID 23238025.
• Hubacek JA, Berge KE, Cohen JC, Hobbs HH (Oct 2001). "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia". Human Mutation. 18 (4): 359–60. doi:10.1002/humu.1206. PMID 11668628. S2CID 10011192.
• Lam CW, Cheng AW, Tong SF, Chan YW (Feb 2002). "Novel donor splice site mutation of ABCG5 gene in sitosterolemia". Molecular Genetics and Metabolism. 75 (2): 178–80. doi:10.1006/mgme.2001.3285. PMID 11855938.
• Lu K, Lee MH, Yu H, Zhou Y, Sandell SA, Salen G, Patel SB (Apr 2002). "Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8". Journal of Lipid Research. 43 (4): 565–78. doi:10.1016/S0022-2275(20)31486-3. PMC 1815568. PMID 11907139.
• Heimerl S, Langmann T, Moehle C, Mauerer R, Dean M, Beil FU, von Bergmann K, Schmitz G (Aug 2002). "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia". Human Mutation. 20 (2): 151. doi:10.1002/humu.9047. PMID 12124998. S2CID 23157539.
• Remaley AT, Bark S, Walts AD, Freeman L, Shulenin S, Annilo T, Elgin E, Rhodes HE, Joyce C, Dean M, Santamarina-Fojo S, Brewer HB (Jul 2002). "Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster". Biochemical and Biophysical Research Communications. 295 (2): 276–82. doi:10.1016/S0006-291X(02)00652-6. PMID 12150943.
• Graf GA, Li WP, Gerard RD, Gelissen I, White A, Cohen JC, Hobbs HH (Sep 2002). "Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface". The Journal of Clinical Investigation. 110 (5): 659–69. doi:10.1172/JCI16000. PMC 151110. PMID 12208867.
• Yu L, Li-Hawkins J, Hammer RE, Berge KE, Horton JD, Cohen JC, Hobbs HH (Sep 2002). "Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol". The Journal of Clinical Investigation. 110 (5): 671–80. doi:10.1172/JCI16001. PMC 151111. PMID 12208868.
• Graf GA, Yu L, Li WP, Gerard R, Tuma PL, Cohen JC, Hobbs HH (Nov 2003). "ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion". The Journal of Biological Chemistry. 278 (48): 48275–82. doi:10.1074/jbc.M310223200. PMID 14504269.
• Kajinami K, Brousseau ME, Nartsupha C, Ordovas JM, Schaefer EJ (Apr 2004). "ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin". Journal of Lipid Research. 45 (4): 653–6. doi:10.1194/jlr.M300278-JLR200. PMID 14703505.
• Freeman LA, Kennedy A, Wu J, Bark S, Remaley AT, Santamarina-Fojo S, Brewer HB (Jul 2004). "The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter". Journal of Lipid Research. 45 (7): 1197–206. doi:10.1194/jlr.C400002-JLR200. PMID 15121760.
• Yu L, Gupta S, Xu F, Liverman AD, Moschetta A, Mangelsdorf DJ, Repa JJ, Hobbs HH, Cohen JC (Mar 2005). "Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion". The Journal of Biological Chemistry. 280 (10): 8742–7. doi:10.1074/jbc.M411080200. PMID 15611112.

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.

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

v t e Lipids: lipoprotein particle metabolism
Lipoprotein particle classes and subclasses	delivery of TGs: Chylomicron VLDL delivery of C and CE: IDL LDL lb LDL sd LDL Lp(a) HDL Remnant cholesterol
Apolipoproteins	APOA 1 2 4 5 APOB APOC 1 2 3 4 APOD APOE APOH SAA SAA1
Extracellular enzymes	LCAT LIPC LPL
Lipid transfer proteins	CETP MTTP PLTP
Cell surface receptors	HDL: SCARB1 IDL: LRP LRP1 LRP1B LRP2 LRP3 LRP4 LRP5 LRP5L LRP6 LRP8 LRP10 LRP11 LRP12 LDL: LDLR LRPAP1
ATP-binding cassette transporter	ABCA1 ABCG5 ABCG8

• Genes on human chromosome 2
• Membrane protein stubs
• ATP-binding cassette transporters