関: ATP-binding cassette transport- ers,ABCB1 1

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/02/01 07:33:26」(JST)

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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.^[1]

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).^[2]

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.^[3]^[4]^[5]^[6]

Clinical significance[edit]

ABCB11 is a gene associated with progressive familial intrahepatic cholestasis type 2 (PFIC2).^[1]^[7]^[8]^[9] PFIC2 caused by mutations in the ABCB11 gene increases the risk of hepatocellular carcinoma in early life.^[10]

References[edit]

^ ^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 (November 1998). "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis". Nat. Genet. 20 (3): 233–8. doi:10.1038/3034. PMID 9806540.
^ "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): 1659–66. doi:10.1053/gast.2002.36587. PMID 12404240.
^ Arrese M, Ananthanarayanan M (November 2004). "The bile salt export pump: molecular properties, function and regulation". Pflugers Arch. 449 (2): 123–31. doi:10.1007/s00424-004-1311-4. PMID 15578267.
^ Stieger B, Meier Y, Meier PJ (February 2007). "The bile salt export pump". Pflugers Arch. 453 (5): 611–20. doi:10.1007/s00424-006-0152-8. PMID 17051391.
^ Zinchuk V, Okada T, Akimaru K, Seguchi H (March 2002). "Asynchronous expression and colocalization of Bsep and Mrp2 during development of rat liver". Am J Physiol Gastrointest Liver Physiol. 282 (3): G540–G8. 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 (December 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 (August 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 (September 2005). "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis". J. Hepatol. 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 (August 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.

External links[edit]

ABCB11 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
[3] SOLVO Biotechnology: Description and clinical significance of BSEP
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.

This article on a gene on chromosome 2 is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

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1. 抱合型高ビリルビン血症関連の遺伝性疾患 inherited disorders associated with conjugated hyperbilirubinemia
2. 薬と肝臓：代謝および肝障害の機序 drugs and the liver metabolism and mechanisms of injury
3. 薬物性肝障害 drug induced liver injury

English Journal

Sensitization to autoimmune hepatitis in group VIA calcium-independent phospholipase A2-null mice led to duodenal villous atrophy with apoptosis, goblet cell hyperplasia and leaked bile acids.

Jiao L1, Gan-Schreier H2, Tuma-Kellner S2, Stremmel W2, Chamulitrat W3.
Biochimica et biophysica acta.Biochim Biophys Acta.2015 Aug;1852(8):1646-57. doi: 10.1016/j.bbadis.2015.04.025. Epub 2015 May 7.
Chronic bowel disease can co-exist with severe autoimmune hepatitis (AIH) in an absence of primary sclerosing cholangitis. Genetic background may contribute to this overlap syndrome. We previously have shown that the deficiency of iPLA2β causes an accumulation of hepatocyte apoptosis, and renders s
PMID 25957555

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate.

Gonzales E1,2, Grosse B2, Schuller B2, Davit-Spraul A3, Conti F4, Guettier C5, Cassio D2, Jacquemin E1,2.
Hepatology (Baltimore, Md.).Hepatology.2015 Aug;62(2):558-66. doi: 10.1002/hep.27767. Epub 2015 Apr 8.
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a result of mutations in ABCB11 encoding bile salt export pump (BSEP), the canalicular bile salt export pump of hepatocyte. In some PFIC2 patients with missense mutations, BSEP is not detected at the canaliculus owing to mistrafficking
PMID 25716872

Successful treatment with 4-phenylbutyrate in a patient with BRIC2 refractory to biliary drainage and bilirubin absorption.

Hayashi H1, Naoi S1, Hirose Y1, Matsuzaka Y1, Tanikawa K2, Igarashi K3, Nagasaka H4, Kage M2, Inui A5, Kusuhara H1.
Hepatology research : the official journal of the Japan Society of Hepatology.Hepatol Res.2015 Jul 29. doi: 10.1111/hepr.12561. [Epub ahead of print]
AIM: Benign recurrent intrahepatic cholestasis type 2 (BRIC2) is caused by mutations in ABCB11, a gene encoding the bile salt export pump (BSEP) that mediates biliary bile salt secretion, and presents with repeated intermittent cholestasis with refractory itching. Currently, no effective medical the
PMID 26223708

Japanese Journal

胆汁酸トランスポーターが関連する疾患と治療 (第1土曜特集トランスポーターと疾患研究の最前線) -- (トランスポーターと疾患)

林久允
医学のあゆみ 245(1), 30-35, 2013-04-06
NAID 40019623335

Sustained Repression and Translocation of NTCP and Expression of MRP4 for Cholestasis after Rat 90% Partial Hepatectomy

Miura Takuya,Kimura Norihisa,Yamada Toshiyuki,Shimizu Takeshi,Nanashima Naoki,Yamana Daisuke,Hakamada Kenichi,Tsuchida Shigeki
弘前医学 64(Supplement), S99-S106, 2013-04-02
… for bile acids was examined in a rat model.Methods: Male Sprague-Dawley rats were subjected to 90% hepatectomy, and tissues were harvested on 0, 1, 3, and 7 days for microarray analysis, the quantitative real-time polymerase chain reaction （RT-PCR）, Western blotting and immunohistochemistry to examine the expression of multidrug resistance protein 4 （Mrp4）, bile salt export pump（ Bsep） and sodium-dependent taurocholate cotransporting polypeptide（ Ntcp）.Results: Persistently elevated serum bile acids were observed on days 3 and …
NAID 120005230059

Measurement of Transport Activities of 3β-Hydroxy-Δ5-bile Acids in Bile Salt Export Pump and Multidrug Resistance-Associated Proteins Using LC-MS/MS

Murai Tsuyoshi,Oda Kana,Toyo Terutake,Nittono Hiroshi,Takei Hajime,Muto Akina,Kimura Akihiko,Kurosawa Takao
Chemical and Pharmaceutical Bulletin, 2013
A method has been developed for the measurement of transport activities in membrane vesicles obtained from Sf9 cells for 3β-hydroxy-Δ5-bile acids by high-performance liquid chromatography-electrospray …
NAID 130003360780

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拡張検索	「BSEP deficiency」
関連記事	「BSE」「BS」

「BSEP deficiency」

ATP-binding cassette, sub-family B (MDR/TAP), member 11
Identifiers
Symbols	ABCB11; ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4; SPGP
External IDs	OMIM: 603201 MGI: 1351619 HomoloGene: 74509 ChEMBL: 6020 GeneCards: ABCB11 Gene
Gene Ontology
Molecular function	• transporter activity; • ATP binding; • sodium-exporting ATPase activity, phosphorylative mechanism; • canalicular bile acid transmembrane transporter activity; • bile acid-exporting ATPase activity; • ATPase activity, coupled to transmembrane movement of substances;
Cellular component	• Golgi membrane; • plasma membrane; • integral to plasma membrane; • membrane; • integral to membrane; • apical plasma membrane; • intercellular canaliculus;
Biological process	• bile acid biosynthetic process; • transport; • bile acid metabolic process; • bile acid and bile salt transport; • canalicular bile acid transport; • small molecule metabolic process; • transmembrane transport;
	Sources: Amigo / QuickGO
Orthologs
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