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    ABCB4 ATP binding cassette subfamily B member 4 [ Homo sapiens (human) ]

    Gene ID: 5244, updated on 26-Jul-2021

    Summary

    Official Symbol
    ABCB4provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 4provided by HGNC
    Primary source
    HGNC:HGNC:45
    See related
    Ensembl:ENSG00000005471 MIM:171060
    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
    GBD1; ICP3; MDR2; MDR3; PGY3; ABC21; MDR2/3; PFIC-3
    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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in liver (RPKM 23.8), adrenal (RPKM 3.1) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ABCB4 in Genome Data Viewer
    Location:
    7q21.12
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (87398988..87476722, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87031012..87104996, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375384 Neighboring gene transmembrane protein 243 Neighboring gene TP53 target 1 Neighboring gene carnitine O-octanoyltransferase Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene ATP binding cassette subfamily B member 1 Neighboring gene RUN domain containing 3B

    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
    Cholestasis, intrahepatic, of pregnancy 3
    MedGen: C3554241 OMIM: 614972 GeneReviews: Not available
    Compare labs
    Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
    GeneReviews: Not available
    Low phospholipid associated cholelithiasis
    MedGen: C2609268 OMIM: 600803 GeneReviews: Not available
    Compare labs
    Progressive familial intrahepatic cholestasis 3
    MedGen: C1865643 OMIM: 602347 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of CD4+ and CD8+ T cells with HIV-1 gp120 increases the intracellular expression of P-glycoprotein (P-gp) PubMed
    Tat tat Disruption of lipid rafts by depletion of membrane cholesterol with methyl-beta-cyclodextrin abolishes Tat-mediated RhoA activation and P-glycoprotein (P-gp) upregulation PubMed

    Go to the HIV-1, Human Interaction Database

    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 transporter activity IEA
    Inferred from Electronic Annotation
    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 ATPase-coupled transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase-coupled transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT enables ceramide floppase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylcholine floppase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylcholine floppase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylcholine floppase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphatidylethanolamine flippase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phospholipid transporter activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables xenobiotic transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bile acid secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to bile acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in ceramide translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipid translocation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phospholipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phospholipid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to fenofibrate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
     
    is_active_in integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in intercellular canaliculus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    phosphatidylcholine translocator ABCB4
    Names
    ATP-binding cassette sub-family B member 4
    ATP-binding cassette, sub-family B (MDR/TAP), member 4
    P-glycoprotein 3
    P-glycoprotein-3/multiple drug resistance-3
    multidrug resistance protein 3
    multiple drug resistance 3
    NP_000434.1
    NP_061337.1
    NP_061338.1
    XP_011514610.3
    XP_011514611.3
    XP_011514612.3
    XP_011514613.3
    XP_011514614.3
    XP_011514615.2
    XP_011514617.2
    XP_016867812.1

    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_007118.2 RefSeqGene

      Range
      9753..83737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000443.4NP_000434.1  phosphatidylcholine translocator ABCB4 isoform A

      See identical proteins and their annotated locations for NP_000434.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) encodes the predominant isoform (A).
      Source sequence(s)
      AC005045, AC005068, AC006154
      Consensus CDS
      CCDS5605.1
      UniProtKB/Swiss-Prot
      P21439
      Related
      ENSP00000496956.2, ENST00000649586.2
      Conserved Domains (3) summary
      cd03249
      Location:395631
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      PTZ00265
      Location:181266
      PTZ00265; multidrug resistance protein (mdr1); Provisional
      pfam00664
      Location:61345
      ABC_membrane; ABC transporter transmembrane region
    2. NM_018849.3NP_061337.1  phosphatidylcholine translocator ABCB4 isoform B

      See identical proteins and their annotated locations for NP_061337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) uses an alternate in-frame splice site in the 3' coding region, compared to variant A, resulting in a longer protein (isoform B).
      Source sequence(s)
      AC005045, AC005068, AC006154
      Consensus CDS
      CCDS5606.1
      UniProtKB/Swiss-Prot
      P21439
      Related
      ENSP00000265723.4, ENST00000265723.8
      Conserved Domains (3) summary
      cd03249
      Location:395631
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      PTZ00265
      Location:181273
      PTZ00265; multidrug resistance protein (mdr1); Provisional
      pfam00664
      Location:61345
      ABC_membrane; ABC transporter transmembrane region
    3. NM_018850.3NP_061338.1  phosphatidylcholine translocator ABCB4 isoform C

      See identical proteins and their annotated locations for NP_061338.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) lacks an alternate in-frame exon, compared to variant A, resulting in a shorter protein (isoform C).
      Source sequence(s)
      AC005045, AC005068, AC006154
      Consensus CDS
      CCDS5607.1
      UniProtKB/Swiss-Prot
      P21439
      Related
      ENSP00000392983.1, ENST00000453593.5
      Conserved Domains (3) summary
      cd03249
      Location:395631
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      PTZ00265
      Location:181219
      PTZ00265; multidrug resistance protein (mdr1); Provisional
      pfam00664
      Location:61345
      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_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      87398988..87476722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516310.3XP_011514612.3  phosphatidylcholine translocator ABCB4 isoform X3

      Conserved Domains (1) summary
      cl28181
      Location:1081334
      AAA; ATPases associated with a variety of cellular activities
    2. XM_011516311.3XP_011514613.3  phosphatidylcholine translocator ABCB4 isoform X4

      Conserved Domains (1) summary
      cl28181
      Location:1081326
      AAA; ATPases associated with a variety of cellular activities
    3. XM_011516308.3XP_011514610.3  phosphatidylcholine translocator ABCB4 isoform X1

      Conserved Domains (1) summary
      cl28181
      Location:1081369
      AAA; ATPases associated with a variety of cellular activities
    4. XM_011516312.3XP_011514614.3  phosphatidylcholine translocator ABCB4 isoform X5

      Conserved Domains (1) summary
      cl28181
      Location:1081322
      AAA; ATPases associated with a variety of cellular activities
    5. XM_011516309.3XP_011514611.3  phosphatidylcholine translocator ABCB4 isoform X2

      Conserved Domains (1) summary
      cl28181
      Location:1081362
      AAA; ATPases associated with a variety of cellular activities
    6. XM_017012323.2XP_016867812.1  phosphatidylcholine translocator ABCB4 isoform X7

    7. XM_011516315.3XP_011514617.2  phosphatidylcholine translocator ABCB4 isoform X8

    8. XM_011516313.3XP_011514615.2  phosphatidylcholine translocator ABCB4 isoform X6

      Conserved Domains (1) summary
      cl28181
      Location:1081309
      AAA; ATPases associated with a variety of cellular activities

    RNA

    1. XR_001744809.2 RNA Sequence

    2. XR_001744810.2 RNA Sequence

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