ABCB11

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ABCB11
Identifiers
AliasesABCB11, ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP, ATP binding cassette subfamily B member 11
External IDsOMIM: 603201 MGI: 1351619 HomoloGene: 74509 GeneCards: ABCB11
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ABCB11
Genomic location for ABCB11
Band2q31.1Start168,915,498 bp[1]
End169,031,324 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003742

NM_021022
NM_001363492

RefSeq (protein)

NP_003733

NP_066302
NP_001350421

Location (UCSC)Chr 2: 168.92 – 169.03 MbChr 2: 69.24 – 69.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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[edit]

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[edit]

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[edit]

  1. ^ a b c ENSG00000073734 GRCh38: Ensembl release 89: ENSG00000276582, ENSG00000073734 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027048 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ "Entrez Gene: ABCB11".
  7. ^ 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.
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.
  12. ^ 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.
  13. ^ 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.
  14. ^ 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[edit]

External links[edit]

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