ATP Binding Cassette Transporter B11 (ABCB11)

ABC-B11; BSEP; PFIC2; ABC16; SPGP; PGY4; Progressive Familial Intrahepatic Cholestasis 2; Bile salt export pump

SPN	T143
HGNC	42
MGI	1351619
PubMed	20010382
RGD	619930
UniProt	O95342
Wiki	ABCB11

ABCB11 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).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.

Reference

"A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis."
Nat. Genet. 20:233-238(1998) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"Two N-linked glycans are required to maintain the transport activity of the bile salt export pump (ABCB11) in MDCK II cells."
Am. J. Physiol. 292:G818-G828(2007) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis."
Gastroenterology 117:1370-1379(1999) [PubMed] [Europe PMC] [Abstract]

"Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population."
J. Hum. Genet. 47:38-50(2002) [PubMed] [Europe PMC] [Abstract]

"FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels."
J. Pediatr. 140:119-124(2002) [PubMed] [Europe PMC] [Abstract]

"Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11."
Gastroenterology 127:379-384(2004) [PubMed] [Europe PMC] [Abstract]

"Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy."
Pharmacogenetics 14:91-102(2004) [PubMed] [Europe PMC] [Abstract]

"Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis."
J. Hepatol. 43:536-543(2005) [PubMed] [Europe PMC] [Abstract]

"Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11)."
Drug Metab. Dispos. 34:1582-1599(2006) [PubMed] [Europe PMC] [Abstract]

"Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver."
Hepatology 44:62-74(2006) [PubMed] [Europe PMC] [Abstract]

"Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury."
Pharmacogenet. Genomics 17:47-60(2007) [PubMed] [Europe PMC] [Abstract]