| ABCB11 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP-binding cassette, sub-family B member 11 (ABCB11), also known as the bile salt export pump (BSEP), 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] Benign recurrent intrahepatic cholestasis (BRIC) is associated with episodic cholestatic jaundice and mutations in ATP8B1 or ABCB11.[15]
Bile salts from the cytoplasm of hepatocytes are transported by the bile salt export pump (BSEP) into bile canaliculi. When bile salt export is deficient due to mutation in the ABCB11 gene, this can lead to intrahepatic toxic accumulation of the bile salts. Individuals with such mutations have an increased incidence of hepatocellular carcinoma or cholangiocarcinoma.[16]
References
- 1 2 3 ENSG00000073734 GRCh38: Ensembl release 89: ENSG00000276582, ENSG00000073734 - Ensembl, May 2017
- 1 2 3 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.
- 1 2 Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, et al. (November 1998). "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis". Nature Genetics. 20 (3): 233–238. doi:10.1038/3034. PMID 9806540. S2CID 21339613.
- ↑ "Entrez Gene: ABCB11".
- ↑ Noé J, Stieger B, Meier PJ (November 2002). "Functional expression of the canalicular bile salt export pump of human liver". Gastroenterology. 123 (5): 1659–1666. doi:10.1053/gast.2002.36587. PMID 12404240.
- ↑ Arrese M, Ananthanarayanan M (November 2004). "The bile salt export pump: molecular properties, function and regulation". Pflügers Archiv. 449 (2): 123–131. doi:10.1007/s00424-004-1311-4. hdl:10533/175746. PMID 15578267. S2CID 21771483.
- ↑ Stieger B, Meier Y, Meier PJ (February 2007). "The bile salt export pump". Pflügers Archiv. 453 (5): 611–620. doi:10.1007/s00424-006-0152-8. PMID 17051391.
- ↑ Zinchuk VS, Okada T, Akimaru K, Seguchi H (March 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–G548. doi:10.1152/ajpgi.00405.2001. PMID 11842005.
- ↑ Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, et al. (December 1999). "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis". Gastroenterology. 117 (6): 1370–1379. 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, et al. (August 2004). "Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11". Gastroenterology. 127 (2): 379–384. doi:10.1053/j.gastro.2004.04.065. PMID 15300568. S2CID 22906105.
- ↑ Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, et al. (September 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): 536–543. doi:10.1016/j.jhep.2005.05.020. PMID 16039748.
- ↑ Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, et al. (August 2006). "Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency". Hepatology. 44 (2): 478–486. doi:10.1002/hep.21287. PMID 16871584. S2CID 22994215.
- ↑ Kalaranjini KV, Glaxon JA, Vasudevan S, Arunkumar ML (June 2021). "Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child - Report from a tertiary care center in South India". Indian Journal of Pathology & Microbiology. 64 (Supplement): S146–S148. doi:10.4103/IJPM.IJPM_254_20. PMID 34135158.
- ↑ Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, et al. (April 2008). "Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families". Gastroenterology. 134 (4): 1203–1214. doi:10.1053/j.gastro.2008.01.038. PMID 18395098.
Further reading
- Guey LT, García-Closas M, Murta-Nascimento C, Lloreta J, Palencia L, Kogevinas M, et al. (February 2010). "Genetic susceptibility to distinct bladder cancer subphenotypes". European Urology. 57 (2): 283–292. doi:10.1016/j.eururo.2009.08.001. PMC 3220186. PMID 19692168.
- Weerachayaphorn J, Cai SY, Soroka CJ, Boyer JL (November 2009). "Nuclear factor erythroid 2-related factor 2 is a positive regulator of human bile salt export pump expression". Hepatology. 50 (5): 1588–1596. doi:10.1002/hep.23151. PMC 3013376. PMID 19821532.
- Rose CS, Grarup N, Krarup NT, Poulsen P, Wegner L, Nielsen T, et al. (October 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): 2122–2129. doi:10.1007/s00125-009-1463-z. PMID 19669124.
- Dixon PH, van Mil SW, Chambers J, Strautnieks S, Thompson RJ, Lammert F, et al. (April 2009). "Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy". Gut. 58 (4): 537–544. doi:10.1136/gut.2008.159541. PMID 18987030. S2CID 206948058.
- Acalovschi M, Tirziu S, Chiorean E, Krawczyk M, Grünhage F, Lammert F (June 2009). "Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls". Lipids. 44 (6): 521–526. doi:10.1007/s11745-009-3300-z. PMID 19408031. S2CID 4003830.
- Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, et al. (December 2008). "Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography". The Journal of Pediatrics. 153 (6): 825–832. doi:10.1016/j.jpeds.2008.06.034. PMID 18692205.
- Thompson R, Strautnieks S (November 2001). "BSEP: function and role in progressive familial intrahepatic cholestasis". Seminars in Liver Disease. 21 (4): 545–550. doi:10.1055/s-2001-19038. PMID 11745042. S2CID 36313859.
- Kim SR, Saito Y, Itoda M, Maekawa K, Kawamoto M, Kamatani N, et al. (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): 277–281. doi:10.2133/dmpk.24.277. PMID 19571440.
- Saito A, Kawamoto M, Kamatani N (June 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): 317–323. doi:10.1038/jhg.2009.31. PMID 19343046.
- Hosgood HD, Menashe I, He X, Chanock S, Lan Q (December 2009). "PTEN identified as important risk factor of chronic obstructive pulmonary disease". Respiratory Medicine. 103 (12): 1866–1870. doi:10.1016/j.rmed.2009.06.016. PMC 2783799. PMID 19625176.
- Hosgood HD, Menashe I, Shen M, Yeager M, Yuenger J, Rajaraman P, et al. (October 2008). "Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway". Carcinogenesis. 29 (10): 1938–1943. doi:10.1093/carcin/bgn178. PMC 2722857. PMID 18676680.
- Ross CJ, Katzov-Eckert H, Dubé MP, Brooks B, Rassekh SR, Barhdadi A, et al. (December 2009). "Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy". Nature Genetics. 41 (12): 1345–1349. doi:10.1038/ng.478. PMID 19898482. S2CID 21293339.
- Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, et al. (December 2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". Journal of Lipid Research. 49 (12): 2582–2589. doi:10.1194/jlr.M800232-JLR200. PMID 18660489.
- Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, et al. (February 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): 553–567. doi:10.1002/hep.22683. PMID 19101985. S2CID 9236795.
- Ho RH, Leake BF, Kilkenny DM, Meyer Zu Schwabedissen HE, Glaeser H, Kroetz DL, Kim RB (January 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, et al. (February 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 (December 2009). "Ku proteins function as corepressors to regulate farnesoid X receptor-mediated gene expression". Biochemical and Biophysical Research Communications. 390 (3): 738–742. doi:10.1016/j.bbrc.2009.10.040. PMID 19833092.
- Andreotti G, Menashe I, Chen J, Chang SC, Rashid A, Gao YT, et al. (2009). "Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China". European Journal of Epidemiology. 24 (12): 763–774. doi:10.1007/s10654-009-9402-3. PMC 2885778. PMID 19888660.
- Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, et al. (January 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 (July 2008). "Bile acid transporters in health and disease". Xenobiotica; the Fate of Foreign Compounds in Biological Systems. 38 (7–8): 1043–1071. 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.
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