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

    Gene ID: 8647, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ABCB11 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (168915468..169031396, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169777291..169887834, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase trafficking Neighboring gene SPC25 component of NDC80 kinetochore complex Neighboring gene glucose-6-phosphatase catalytic subunit 2 Neighboring gene Sharpr-MPRA regulatory region 4346 Neighboring gene dehydrogenase/reductase 9

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    GeneReviews: Not available
    Benign recurrent intrahepatic cholestasis type 2
    MedGen: C2608083 OMIM: 605479 GeneReviews: ATP8B1 Deficiency
    Compare labs
    Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    GeneReviews: Not available
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    GeneReviews: Not available
    Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
    GeneReviews: Not available
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    GeneReviews: Not available
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    GeneReviews: Not available
    Progressive familial intrahepatic cholestasis 2
    MedGen: C3489789 OMIM: 601847 GeneReviews: ATP8B1 Deficiency
    Compare labs
    Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type bile acid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ABC-type bile acid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ABC-type bile acid transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ABC-type bile acid transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ABC-type bile acid transporter activity TAS
    Traceable Author Statement
    more info
     
    enables ABC-type xenobiotic transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ABC-type xenobiotic transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables bile acid transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables bile acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables canalicular bile acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables canalicular bile acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables canalicular bile acid transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables canalicular bile acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in bile acid and bile salt transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bile acid and bile salt transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bile acid and bile salt transport TAS
    Traceable Author Statement
    more info
     
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in bile acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in bile acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bile acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in canalicular bile acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in canalicular bile acid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in canalicular bile acid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in canalicular bile acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in drug export IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in drug export ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in drug metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in drug metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in drug transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in drug transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lipid homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phospholipid homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bile acid secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of bile acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of fatty acid beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intercellular canaliculus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular canaliculus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in recycling endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in recycling endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      ENSP00000497931.1, ENST00000650372.1
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 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

      Related
      ENSP00000497165.1, ENST00000649448.1
      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.p13 ALT_REF_LOCI_1

    Genomic

    1. NW_003315909.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      107408..123061 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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