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    ABCB1 ATP binding cassette subfamily B member 1 [ Homo sapiens (human) ]

    Gene ID: 5243, updated on 19-Nov-2017
    Official Symbol
    ABCB1provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 1provided by HGNC
    Primary source
    HGNC:HGNC:40
    See related
    Ensembl:ENSG00000085563 MIM:171050; Vega:OTTHUMG00000023393
    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
    CLCS; MDR1; P-GP; PGY1; ABC20; CD243; GP170
    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 an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]
    Orthologs
    Location:
    7q21.12
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (87503863..87713323, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87133179..87342639, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene TP53 target 1 (non-protein coding) Neighboring gene carnitine O-octanoyltransferase Neighboring gene ATP binding cassette subfamily B member 4 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene RUN domain containing 3B Neighboring gene solute carrier family 25 member 40 Neighboring gene DBF4 zinc finger Neighboring gene ADAM metallopeptidase domain 22 Neighboring gene uncharacterized LOC105375386

    • 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?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-mediated downregulation of P-gp is attenuated by SN50 (a nuclear factor-KappaB [NF-KappaB] inhibitor), suggesting involvement of NF-KappaB signaling in P-gp regulation in primary cultures of human fetal astrocytes PubMed
    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
    tat HIV-1 Tat upregulates expression of P-glycoprotein (P-gp) in brain micro vascular endothelial cells (BMEC) PubMed
    tat HIV-1 Tat represses transcription of the Sp1-dependent MDR1 promoter, suggesting Tat downregulates MDR1 expression PubMed
    integrase gag-pol HIV-1 integrase inhibitors induce a fuctional P-glycoprotein (P-gp) conformation in CD4+ CEM cells, indicating a significant inhibition of P-gp function, suggesting an interaction between integrase and P-gp. PubMed

    Go to the HIV-1, Human Interaction Database

    • 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 ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Abacavir transmembrane transport, organism-specific biosystem (from REACTOME)
      Abacavir transmembrane transport, organism-specific biosystemCytosolic levels of abacavir are determined by the balance of its facilitated diffusion into the cell mediated by organic cation transporters SLC22A1, 2, and 3, and its ATP-dependent efflux from cell...
    • Abacavir transport and metabolism, organism-specific biosystem (from REACTOME)
      Abacavir transport and metabolism, organism-specific biosystemAbacavir is a nucleoside analogue reverse transcriptase inhibitor with antiretroviral activity, widely used in combination with other drugs to treat HIV-1 infection (Yuen et al. 2008). Its uptake acr...
    • Allograft Rejection, organism-specific biosystem (from WikiPathways)
      Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
    • 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...
    • Codeine and Morphine Metabolism, organism-specific biosystem (from WikiPathways)
      Codeine and Morphine Metabolism, organism-specific biosystemThe principal pathways for metabolism of codeine occur in the liver, although some metabolism occurs in the intestine and brain. Approximately 50-70% of codeine is converted to codeine-6-glucuronide ...
    • Constitutive Androstane Receptor Pathway, organism-specific biosystem (from WikiPathways)
      Constitutive Androstane Receptor Pathway, organism-specific biosystemThe Constitutive Androstane Receptor (CAR) is a nuclear receptor and functions as a sensor for xenobiotics. It regulates transcription of genes encoding proteins in metabolism and excretion of xenobi...
    • 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
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • LncRNA-mediated mechanisms of therapeutic resistance, organism-specific biosystem (from WikiPathways)
      LncRNA-mediated mechanisms of therapeutic resistance, organism-specific biosystemLncRNA-mediated mechanisms of therapeutic resistance. Mechanisms of tumor cell resistance to chemotherapy or hypoxia involving lncRNA include modulation of drug transporters and elimination, survival...
    • 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...
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • 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...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC163296

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    G2/M transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ceramide translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to drug TAS
    Traceable Author Statement
    more info
    PubMed 
    stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane 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
    multidrug resistance protein 1
    Names
    ATP-binding cassette, sub-family B (MDR/TAP), member 1
    P glycoprotein
    P-glycoprotein 1
    colchicin sensitivity
    doxorubicin resistance
    NP_000918.2

    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_011513.1 RefSeqGene

      Range
      4926..214386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000927.4NP_000918.2  multidrug resistance protein 1 isoform 2

      See identical proteins and their annotated locations for NP_000918.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AA776371, AC002457, AK290159
      Consensus CDS
      CCDS5608.1
      UniProtKB/Swiss-Prot
      P08183
      UniProtKB/TrEMBL
      A4D1D2
      Related
      ENSP00000265724.3, OTTHUMP00000205790, ENST00000265724.7, OTTHUMT00000335444
      Conserved Domains (1) summary
      cl28181
      Location:531267
      AAA; ATPases associated with a variety of cellular activities
    2. NM_001348944.1NP_001335873.1  multidrug resistance protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AC002457, AC005068
      Conserved Domains (1) summary
      cl28181
      Location:531267
      AAA; ATPases associated with a variety of cellular activities
    3. NM_001348945.1NP_001335874.1  multidrug resistance protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC002457, AC005068
      Conserved Domains (1) summary
      cl28181
      Location:1231337
      AAA; ATPases associated with a variety of cellular activities
    4. NM_001348946.1NP_001335875.1  multidrug resistance protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AC002457, AC005068
      Conserved Domains (1) summary
      cl28181
      Location:531267
      AAA; ATPases associated with a variety of cellular activities

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      87503863..87713323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      87063281..87272756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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