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ABCB11 ATP binding cassette subfamily B member 11 [ Homo sapiens (human) ]

Gene ID: 8647, updated on 5-Aug-2018
Official Symbol
ABCB11provided by HGNC
Official Full Name
ATP binding cassette subfamily B member 11provided by HGNC
Primary source
HGNC:HGNC:42
See related
Ensembl:ENSG00000073734 MIM:603201; Vega:OTTHUMG00000154039
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSEP; PGY4; SPGP; ABC16; BRIC2; PFIC2; PFIC-2
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]
Expression
Biased expression in liver (RPKM 10.4), testis (RPKM 2.0) and 1 other tissue See more
Orthologs
See ABCB11 in Genome Data Viewer
Location:
2q31.1
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (168915468..169031396, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169779336..169887833, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase trafficking Neighboring gene SPC25, NDC80 kinetochore complex component Neighboring gene glucose-6-phosphatase catalytic subunit 2 Neighboring gene dehydrogenase/reductase 9 Neighboring gene ubiquitin conjugating enzyme E2 V1 pseudogene 6

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
NHGRI GWA Catalog
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
NHGRI GWA Catalog
  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
    Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Drug Induction of Bile Acid Pathway, organism-specific biosystem (from WikiPathways)
    Drug Induction of Bile Acid Pathway, organism-specific biosystem
    Drug Induction of Bile Acid Pathway
  • Endocrine resistance, organism-specific biosystem (from KEGG)
    Endocrine resistance, organism-specific biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
  • Endocrine resistance, conserved biosystem (from KEGG)
    Endocrine resistance, conserved biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
  • Farnesoid X Receptor Pathway, organism-specific biosystem (from WikiPathways)
    Farnesoid X Receptor Pathway, organism-specific biosystemThe farnesoid X receptor (FXR, a.k.a. NR1H4) is a nuclear receptor that responds to levels of bile acids present in the body and regulates many processes related to bile acids synthesis and transport
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Nuclear Receptors in Lipid Metabolism and Toxicity, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors in Lipid Metabolism and Toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
  • Recycling of bile acids and salts, organism-specific biosystem (from REACTOME)
    Recycling of bile acids and salts, organism-specific biosystemOf the 20-40 grams of bile salts released daily by the liver, all but approximately 0.5 grams are reabsorbed from the intestine, returned to the liver, and re-used. This recycling involves a series o...
  • Synthesis of bile acids and bile salts, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily (Russell 2003). The major pathway for bile salt synthesis in the liver begins with the conversion of cholesterol...
  • Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, organism-specific biosystemIn the liver, synthesis of bile acids and bile salts is initiated with the conversion of cholesterol to 7alpha-hydroxycholesterol and of 7alpha-hydroxycholesterol to 4-cholesten-7alpha-ol-3-one. The ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
bile acid-exporting ATPase activity TAS
Traceable Author Statement
more info
 
canalicular bile acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium-exporting ATPase activity, phosphorylative mechanism TAS
Traceable Author Statement
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP hydrolysis coupled cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
bile acid and bile salt transport TAS
Traceable Author Statement
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
canalicular bile acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intercellular canaliculus IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
bile salt export pump
Names
ABC member 16, MDR/TAP subfamily
ATP-binding cassette sub-family B member 11
ATP-binding cassette, sub-family B (MDR/TAP), member 11
progressive familial intrahepatic cholestasis 2
sister p-glycoprotein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007374.2 RefSeqGene

    Range
    5073..115616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1199

mRNA and Protein(s)

  1. NM_003742.4NP_003733.2  bile salt export pump

    See identical proteins and their annotated locations for NP_003733.2

    Status: REVIEWED

    Source sequence(s)
    AC008177, AC069137, AF091582, CB161524
    Consensus CDS
    CCDS46444.1
    UniProtKB/Swiss-Prot
    O95342
    Related
    ENSP00000263817.6, OTTHUMP00000204927, ENST00000263817.6
    Conserved Domains (3) summary
    cd03249
    Location:10781317
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:211314
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:67371
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    168915468..169031396 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005165.1XP_016860654.1  bile salt export pump isoform X3

  2. XM_006712817.3XP_006712880.1  bile salt export pump isoform X2

    See identical proteins and their annotated locations for XP_006712880.1

    Conserved Domains (3) summary
    cd03249
    Location:10921331
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:431328
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:81385
    ABC_membrane; ABC transporter transmembrane region
  3. XM_011512078.2XP_011510380.1  bile salt export pump isoform X1

    See identical proteins and their annotated locations for XP_011510380.1

    Conserved Domains (3) summary
    cd03249
    Location:11121351
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:521348
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:101405
    ABC_membrane; ABC transporter transmembrane region
  4. XM_011512077.2XP_011510379.1  bile salt export pump isoform X1

    See identical proteins and their annotated locations for XP_011510379.1

    Conserved Domains (3) summary
    cd03249
    Location:11121351
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:521348
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:101405
    ABC_membrane; ABC transporter transmembrane region
  5. XM_017005166.1XP_016860655.1  bile salt export pump isoform X4

  6. XM_017005167.1XP_016860656.1  bile salt export pump isoform X6

  7. XM_011512081.2XP_011510383.1  bile salt export pump isoform X7

    Conserved Domains (4) summary
    cd03249
    Location:520759
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:183756
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:202470
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:199
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  8. XM_011512080.2XP_011510382.1  bile salt export pump isoform X5

    Conserved Domains (4) summary
    cd03249
    Location:454691
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:170694
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:101405
    ABC_membrane; ABC transporter transmembrane region
    cl00549
    Location:794921
    ABC_membrane; ABC transporter transmembrane region

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003315909.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    109566..123061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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