ABCB11
| ABCB11 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | ABCB11, ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP, ATP binding cassette subfamily B member 11 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603201; MGI: 1351619; HomoloGene: 74509; GeneCards: ABCB11; OMA:ABCB11 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP-binding cassette, sub-family B member 11 also known as ABCB11 is a protein which in humans is encoded by the ABCB11 gene.[5]
Function
The product of the ABCB11 gene is an ABC transporter named BSEP (Bile Salt Export Pump), or sPgp (sister of P-glycoprotein). This membrane-associated protein 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).[6]
This protein is a member of the MDR/TAP subfamily. Some members of the MDR/TAP subfamily are involved in multidrug resistance. This particular protein is responsible for the transport of taurocholate and other cholate conjugates from hepatocytes (liver cells) to the bile. In humans, the activity of this transporter is the major determinant of bile formation and bile flow.[7][8][9][10]
Clinical significance
ABCB11 is a gene associated with progressive familial intrahepatic cholestasis type 2 (PFIC2).[5][11][12][13] PFIC2 caused by mutations in the ABCB11 gene increases the risk of hepatocellular carcinoma in early life.[14]
References
- ^ a b c ENSG00000073734 GRCh38: Ensembl release 89: ENSG00000276582, ENSG00000073734 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027048 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ (Nov 1998). "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis". Nature Genetics. 20 (3): 233–8. doi:10.1038/3034. PMID 9806540.
- ^ "Entrez Gene: ABCB11".
- ^ Noé J, Stieger B, Meier PJ (Nov 2002). "Functional expression of the canalicular bile salt export pump of human liver". Gastroenterology. 123 (5): 1659–66. doi:10.1053/gast.2002.36587. PMID 12404240.
- ^ Arrese M, Ananthanarayanan M (Nov 2004). "The bile salt export pump: molecular properties, function and regulation". Pflügers Archiv. 449 (2): 123–31. doi:10.1007/s00424-004-1311-4. PMID 15578267.
- ^ Stieger B, Meier Y, Meier PJ (Feb 2007). "The bile salt export pump". Pflügers Archiv. 453 (5): 611–20. doi:10.1007/s00424-006-0152-8. PMID 17051391.
- ^ Zinchuk VS, Okada T, Akimaru K, Seguchi H (Mar 2002). "Asynchronous expression and colocalization of Bsep and Mrp2 during development of rat liver". American Journal of Physiology. Gastrointestinal and Liver Physiology. 282 (3): G540–8. doi:10.1152/ajpgi.00405.2001. PMID 11842005.
- ^ Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M (Dec 1999). "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis". Gastroenterology. 117 (6): 1370–9. doi:10.1016/S0016-5085(99)70287-8. PMID 10579978.
- ^ van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW (Aug 2004). "Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11". Gastroenterology. 127 (2): 379–84. doi:10.1053/j.gastro.2004.04.065. PMID 15300568.
- ^ Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, Müllhaupt B, Meier PJ, Pauli-Magnus C (Sep 2005). "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis". Journal of Hepatology. 43 (3): 536–43. doi:10.1016/j.jhep.2005.05.020. PMID 16039748.
- ^ Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawłowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ (Aug 2006). "Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency". Hepatology. 44 (2): 478–86. doi:10.1002/hep.21287. PMID 16871584.
Further reading
- Guey LT, García-Closas M, Murta-Nascimento C, Lloreta J, Palencia L, Kogevinas M, Rothman N, Vellalta G, Calle ML, Marenne G, Tardón A, Carrato A, García-Closas R, Serra C, Silverman DT, Chanock S, Real FX, Malats N (Feb 2010). "Genetic susceptibility to distinct bladder cancer subphenotypes". European Urology. 57 (2): 283–92. doi:10.1016/j.eururo.2009.08.001. PMC 3220186. PMID 19692168.
- Weerachayaphorn J, Cai SY, Soroka CJ, Boyer JL (Nov 2009). "Nuclear factor erythroid 2-related factor 2 is a positive regulator of human bile salt export pump expression". Hepatology. 50 (5): 1588–96. doi:10.1002/hep.23151. PMC 3013376. PMID 19821532.
- Rose CS, Grarup N, Krarup NT, Poulsen P, Wegner L, Nielsen T, Banasik K, Faerch K, Andersen G, Albrechtsen A, Borch-Johnsen K, Clausen JO, Jørgensen T, Vaag A, Pedersen O, Hansen T (Oct 2009). "A variant in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose, increased basal hepatic glucose production and increased insulin release after oral and intravenous glucose loads". Diabetologia. 52 (10): 2122–9. doi:10.1007/s00125-009-1463-z. PMID 19669124.
- Dixon PH, van Mil SW, Chambers J, Strautnieks S, Thompson RJ, Lammert F, Kubitz R, Keitel V, Glantz A, Mattsson LA, Marschall HU, Molokhia M, Moore GE, Linton KJ, Williamson C (Apr 2009). "Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy". Gut. 58 (4): 537–44. doi:10.1136/gut.2008.159541. PMID 18987030.
- Acalovschi M, Tirziu S, Chiorean E, Krawczyk M, Grünhage F, Lammert F (Jun 2009). "Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls". Lipids. 44 (6): 521–6. doi:10.1007/s11745-009-3300-z. PMID 19408031.
- Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, Hsu HY, Wu TC, Chang MH (Dec 2008). "Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography". The Journal of Pediatrics. 153 (6): 825–32. doi:10.1016/j.jpeds.2008.06.034. PMID 18692205.
- Thompson R, Strautnieks S (Nov 2001). "BSEP: function and role in progressive familial intrahepatic cholestasis". Seminars in Liver Disease. 21 (4): 545–50. doi:10.1055/s-2001-19038. PMID 11745042.
- Kim SR, Saito Y, Itoda M, Maekawa K, Kawamoto M, Kamatani N, Ozawa S, Sawada J (2009). "Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population". Drug Metabolism and Pharmacokinetics. 24 (3): 277–81. doi:10.2133/dmpk.24.277. PMID 19571440.
- Saito A, Kawamoto M, Kamatani N (Jun 2009). "Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects". Journal of Human Genetics. 54 (6): 317–23. doi:10.1038/jhg.2009.31. PMID 19343046.
- Hosgood HD, Menashe I, He X, Chanock S, Lan Q (Dec 2009). "PTEN identified as important risk factor of chronic obstructive pulmonary disease". Respiratory Medicine. 103 (12): 1866–70. doi:10.1016/j.rmed.2009.06.016. PMC 2783799. PMID 19625176.
- Hosgood HD, Menashe I, Shen M, Yeager M, Yuenger J, Rajaraman P, He X, Chatterjee N, Caporaso NE, Zhu Y, Chanock SJ, Zheng T, Lan Q (Oct 2008). "Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway". Carcinogenesis. 29 (10): 1938–43. doi:10.1093/carcin/bgn178. PMC 2722857. PMID 18676680.
- Ross CJ, Katzov-Eckert H, Dubé MP, Brooks B, Rassekh SR, Barhdadi A, Feroz-Zada Y, Visscher H, Brown AM, Rieder MJ, Rogers PC, Phillips MS, Carleton BC, Hayden MR (Dec 2009). "Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy". Nature Genetics. 41 (12): 1345–9. doi:10.1038/ng.478. PMID 19898482.
- Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM (Dec 2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". Journal of Lipid Research. 49 (12): 2582–9. doi:10.1194/jlr.M800232-JLR200. PMID 18660489.
- Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ (Feb 2009). "Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing". Hepatology. 49 (2): 553–67. doi:10.1002/hep.22683. PMID 19101985.
- Ho RH, Leake BF, Kilkenny DM, Meyer Zu Schwabedissen HE, Glaeser H, Kroetz DL, Kim RB (Jan 2010). "Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability". Pharmacogenetics and Genomics. 20 (1): 45–57. doi:10.1097/FPC.0b013e3283349eb0. PMC 2883163. PMID 20010382.
- Takeuchi F, Katsuya T, Chakrewarthy S, Yamamoto K, Fujioka A, Serizawa M, Fujisawa T, Nakashima E, Ohnaka K, Ikegami H, Sugiyama T, Nabika T, Kasturiratne A, Yamaguchi S, Kono S, Takayanagi R, Yamori Y, Kobayashi S, Ogihara T, de Silva A, Wickremasinghe R, Kato N (Feb 2010). "Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations". Diabetologia. 53 (2): 299–308. doi:10.1007/s00125-009-1595-1. PMID 19937311.
- Ohno M, Kunimoto M, Nishizuka M, Osada S, Imagawa M (Dec 2009). "Ku proteins function as corepressors to regulate farnesoid X receptor-mediated gene expression". Biochemical and Biophysical Research Communications. 390 (3): 738–42. doi:10.1016/j.bbrc.2009.10.040. PMID 19833092.
- Andreotti G, Menashe I, Chen J, Chang SC, Rashid A, Gao YT, Han TQ, Sakoda LC, Chanock S, Rosenberg PS, Hsing AW (2009). "Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China". European Journal of Epidemiology. 24 (12): 763–74. doi:10.1007/s10654-009-9402-3. PMC 2885778. PMID 19888660.
- Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, Hoggart C, Collins A, Turunen H, Gabriel S, Elliot P, McCarthy MI, Daly MJ, Järvelin MR, Freimer NB, Peltonen L (Jan 2009). "Genome-wide association analysis of metabolic traits in a birth cohort from a founder population". Nature Genetics. 41 (1): 35–46. doi:10.1038/ng.271. PMC 2687077. PMID 19060910.
- Kosters A, Karpen SJ (Jul 2008). "Bile acid transporters in health and disease". Xenobiotica. 38 (7–8): 1043–71. doi:10.1080/00498250802040584. PMC 2823065. PMID 18668439.
External links
- ABCB11+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ABCB11 human gene location in the UCSC Genome Browser.
- ABCB11 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.