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ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)
Identifiers
Symbols ABCG5; STSL
External IDs OMIM605459 MGI1351659 HomoloGene31909 GeneCards: ABCG5 Gene
RNA expression pattern
PBB GE ABCG5 220383 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 64240 27409
Ensembl ENSG00000138075 ENSMUSG00000040505
UniProt Q9H222 Q540E8
RefSeq (mRNA) NM_022436 NM_031884
RefSeq (protein) NP_071881 NP_114090
Location (UCSC) Chr 2:
43.89 - 43.92 Mb
Chr 17:
84.57 - 84.59 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene.[1][2][3]

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 atheroschlerosis, and have been observed in patients with sitosterolemia.[3]

Contents

See also

References

  1. ^ 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. PMID 11099417.  
  2. ^ 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 Jr, Salen G, Dean M, Srivastava A, Patel SB (Jul 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". Am J Hum Genet 69 (2): 278-90. PMID 11452359.  
  3. ^ a b "Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240.  

Further reading

  • Schmitz G, Langmann T, Heimerl S (2002). "Role of ABCG1 and other ABCG family members in lipid metabolism.". J. Lipid Res. 42 (10): 1513–20. PMID 11590207.  
  • Patel SB, Salen G, Hidaka H, et al. (1998). "Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.". J. Clin. Invest. 102 (5): 1041–4. doi:10.1172/JCI3963. PMID 9727073.  
  • Lee MH, Lu K, Hazard S, et al. (2001). "Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.". Nat. Genet. 27 (1): 79–83. doi:10.1038/83799. PMID 11138003.  
  • Shulenin S, Schriml LM, Remaley AT, et al. (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.". Cytogenet. Cell Genet. 92 (3-4): 204–8. doi:10.1159/000056903. PMID 11435688.  
  • Hubacek JA, Berge KE, Cohen JC, Hobbs HH (2002). "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.". Hum. Mutat. 18 (4): 359–60. doi:10.1002/humu.1206. PMID 11668628.  
  • Lam CW, Cheng AW, Tong SF, Chan YW (2002). "Novel donor splice site mutation of ABCG5 gene in sitosterolemia.". Mol. Genet. Metab. 75 (2): 178–80. doi:10.1006/mgme.2001.3285. PMID 11855938.  
  • Lu K, Lee MH, Yu H, et al. (2002). "Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.". J. Lipid Res. 43 (4): 565–78. PMID 11907139.  
  • Heimerl S, Langmann T, Moehle C, et al. (2002). "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.". Hum. Mutat. 20 (2): 151. doi:10.1002/humu.9047. PMID 12124998.  
  • Remaley AT, Bark S, Walts AD, et al. (2002). "Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster.". Biochem. Biophys. Res. Commun. 295 (2): 276–82. doi:10.1016/S0006-291X(02)00652-6. PMID 12150943.  
  • Graf GA, Li WP, Gerard RD, et al. (2002). "Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface.". J. Clin. Invest. 110 (5): 659–69. PMID 12208867.  
  • Yu L, Li-Hawkins J, Hammer RE, et al. (2002). "Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol.". J. Clin. Invest. 110 (5): 671–80. PMID 12208868.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Graf GA, Yu L, Li WP, et al. (2004). "ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion.". J. Biol. Chem. 278 (48): 48275–82. doi:10.1074/jbc.M310223200. PMID 14504269.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  
  • Kajinami K, Brousseau ME, Nartsupha C, et al. (2004). "ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin.". J. Lipid Res. 45 (4): 653–6. doi:10.1194/jlr.M300278-JLR200. PMID 14703505.  
  • Freeman LA, Kennedy A, Wu J, et al. (2005). "The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter.". J. Lipid Res. 45 (7): 1197–206. doi:10.1194/jlr.C400002-JLR200. PMID 15121760.  
  • Yu L, Gupta S, Xu F, et al. (2005). "Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion.". J. Biol. Chem. 280 (10): 8742–7. doi:10.1074/jbc.M411080200. PMID 15611112.  

External links

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

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