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ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003742 Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. GenEZ ORF Cloning In-stock $1198.00 $1149.00 16
XM_006712817 PREDICTED: Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006712818 PREDICTED: Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol ABCB11
Entrez Gene ID 8647
Full Name ATP-binding cassette, sub-family B (MDR/TAP), member 11
Synonyms ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
General protein information
Preferred Names
bile salt export pump
Names
bile salt export pump
sister p-glycoprotein
ABC member 16, MDR/TAP subfamily
ATP-binding cassette sub-family B member 11
progressive familial intrahepatic cholestasis 2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q24

Summary The membrane-associated protein encoded by this gene 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. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008].
Disorder

MIM: 603201

Cholestasis, progressive familial intrahepatic 2, 601847 (3);

mRNA Protein Product Sequence Price Select
NM_003742, 21536377 NP_003733, 21536378 bile salt export pump ORF Sequence $999.00
XM_006712817, 578805072 XP_006712880, 578805073 bile salt export pump isoform X1 ORF Sequence $1500.00
XM_006712818, 578805074 XP_006712881, 578805075 bile salt export pump isoform X2 ORF Sequence $1500.00
KEGG
hsa02010ABC transporters
hsa04976Bile secretion
WikiPathways
WP299Nuclear receptors in lipid metabolism and toxicity
WP2289Drug Induction of Bile Acid Pathway
Reactome
REACT_11040Bile acid and bile salt metabolism
REACT_11054Synthesis of bile acids and bile salts
REACT_11041Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
REACT_11042Recycling of bile acids and salts
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)ABCB11NP_003733.2
Pan troglodytes (chimpanzee)ABCB11XP_526100.2
Macaca mulatta (Rhesus monkey)ABCB11XP_001097771.2
Canis lupus familiaris (dog)ABCB11NP_001137404.1
Bos taurus (cattle)ABCB11NP_001179632.1
Mus musculus (house mouse)Abcb11NP_066302.2
Rattus norvegicus (Norway rat)Abcb11NP_113948.1
Gallus gallus (chicken)ABCB11XP_004942815.1
Danio rerio (zebrafish)abcb11bXP_003199513.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100489579XP_004917764.1
Process
IDNameEvidence
GO:0006200ATP catabolic processIEA
GO:0006699bile acid biosynthetic processTAS
GO:0006810transportTAS
GO:0008206bile acid metabolic processTAS
GO:0015721bile acid and bile salt transportTAS
GO:0015722canalicular bile acid transportIBA
GO:0035725sodium ion transmembrane transportTAS
GO:0044281small molecule metabolic processTAS
GO:0055085transmembrane transportIBA
Component
IDNameEvidence
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneTAS
GO:0016020membraneTAS
GO:0016021integral component of membraneIBA
GO:0045177apical part of cellIEA
GO:0046581intercellular canaliculusIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005215transporter activityTAS
GO:0005524ATP bindingIEA
GO:0008554sodium-exporting ATPase activity, phosphorylative mechanismTAS
GO:0015126canalicular bile acid transmembrane transporter activityIBA
GO:0015432bile acid-exporting ATPase activityTAS
GO:0042626ATPase activity, coupled to transmembrane movement of substancesIBA
GeneCards ABCB11
UniProt O95342
Vega OTTHUMG00000154039
MIM 603201
Ensembl ENSG00000073734
HGNC 42
HPRD 04436

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ABCB11 gene?

The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP), which is found in the liver. Bile salts are a component of bile, which is used to digest fats. Bile salts are produced by liver cells and then transported out of the cell by BSEP to make bile. The release of bile salts from liver cells is critical for the normal secretion of bile.

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