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

    Gene ID: 8647, updated on 23-Aug-2016
    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 HPRD:04436; 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]
    Orthologs
    Location:
    2q24
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    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
    • 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
     
    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
    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
     
    sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    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_007374.1 RefSeqGene

      Range
      5001..113385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_003733.2

      Status: REVIEWED

      Source sequence(s)
      AF091582
      Consensus CDS
      CCDS46444.1
      UniProtKB/Swiss-Prot
      O95342
      Related
      ENSP00000263817, OTTHUMP00000204927, ENST00000263817, OTTHUMT00000333616
      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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017005165.1XP_016860654.1  

    2. XM_006712817.3XP_006712880.1  

      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:147387
      ABC_membrane; ABC transporter transmembrane region
    3. XM_011512078.2XP_011510380.1  

      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:167407
      ABC_membrane; ABC transporter transmembrane region
    4. XM_011512077.2XP_011510379.1  

      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:167407
      ABC_membrane; ABC transporter transmembrane region
    5. XM_017005166.1XP_016860655.1  

    6. XM_017005167.1XP_016860656.1  

    7. XM_011512081.2XP_011510383.1  

      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:204473
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:199
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    8. XM_011512080.2XP_011510382.1  

      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:167407
      ABC_membrane; ABC transporter transmembrane region
      cl00549
      Location:796921
      ABC_membrane; ABC transporter transmembrane region

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003315909.1 Reference GRCh38.p7 ALT_REF_LOCI_1

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      169785291..169893825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)