Format

Send to:

Choose Destination
    • Showing Current items.

    VDAC1 voltage dependent anion channel 1 [ Homo sapiens (human) ]

    Gene ID: 7416, updated on 17-Jun-2019

    Summary

    Official Symbol
    VDAC1provided by HGNC
    Official Full Name
    voltage dependent anion channel 1provided by HGNC
    Primary source
    HGNC:HGNC:12669
    See related
    Ensembl:ENSG00000213585 MIM:604492
    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
    PORIN; VDAC-1
    Summary
    This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in heart (RPKM 107.1), duodenum (RPKM 94.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See VDAC1 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (133971871..134070987, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133307566..133341300, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chromosome 5 open reading frame 15 Neighboring gene uncharacterized LOC105379183 Neighboring gene uncharacterized LOC105379185 Neighboring gene short transmembrane mitochondrial protein 1-like Neighboring gene transcription factor 7

    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 FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with voltage-dependent anion channel 1 (VDAC1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with voltage-dependent anion channel 1 (VDAC1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Nef nef HIV-1 Nef downregulates the expression of voltage-dependent anion channel 1 (VDAC1) protein in Nef-transfected SupT1 cells PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of voltage-dependent anion channel 1 (VDAC1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    vpr The G5 domain of gelsolin inhibits HIV-Vpr-induced T-cell apoptosis by blocking the interaction between Vpr and VDAC PubMed
    vpr HIV-1 Vpr interacts with a molecular complex of voltage-dependent anion channel (VDAC) and adenine nucleotide translocator (ANT) by directly binding to ANT resulting in the induction of mitochondrial membrane permeabilization PubMed
    retropepsin gag-pol HIV-1 PR cleaves VDAC in a dose-dependent manner in HEK293 cells PubMed
    gag-pol HIV-1 PR interacts with mitochondrial proteins VDAC, cytochrome c, TOM22, and Bax in HeLa cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
      Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
    • Mitophagy, organism-specific biosystem (from REACTOME)
      Mitophagy, organism-specific biosystemMitophagy is a specific form of autophagy where mitochondria are specifically targeted for degradation by autophagolysosomes.. In mammals there are a number of known mechanisms of mitophagy. One insu...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Pink/Parkin Mediated Mitophagy, organism-specific biosystem (from REACTOME)
      Pink/Parkin Mediated Mitophagy, organism-specific biosystemThis is the process of selective removal of damaged mitochondria by autophagosomes and subsequent catabolism by lysosomes. In healthy mitochondria, PINK1 is imported to the inner mitochondrial membra...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC111064

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    porin activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated anion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    voltage-gated anion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated anion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    voltage-gated anion channel activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    anion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    inorganic anion transport IEA
    Inferred from Electronic Annotation
    more info
     
    learning IEA
    Inferred from Electronic Annotation
    more info
     
    macroautophagy TAS
    Traceable Author Statement
    more info
     
    mitochondrial calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    neuron-neuron synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate metabolic process TAS
    Traceable Author Statement
    more info
     
    regulation of autophagy of mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial permeability transition pore complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion HDA PubMed 
    nucleus HDA PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pore complex TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    voltage-dependent anion-selective channel protein 1
    Names
    outer mitochondrial membrane protein porin 1
    plasmalemmal porin
    porin 31HL
    porin 31HM
    sperm binding protein 1a

    NCBI Reference Sequences (RefSeq)

    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_027817.2 RefSeqGene

      Range
      5001..38259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003374.3NP_003365.1  voltage-dependent anion-selective channel protein 1

      See identical proteins and their annotated locations for NP_003365.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC008608, AC025177, AK095989, BC008482, L06132
      Consensus CDS
      CCDS4168.1
      UniProtKB/Swiss-Prot
      P21796
      UniProtKB/TrEMBL
      A0A1L1UHR1, B3KTS5
      Related
      ENSP00000265333.3, ENST00000265333.8
      Conserved Domains (1) summary
      cd07306
      Location:4282
      Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane

    RNA

    1. NR_036624.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon, compared to variant 1. This variant (3) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF.
      Source sequence(s)
      AC025177, BC008482, DA072915, L06132
    2. NR_036625.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant (2) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF.
      Source sequence(s)
      AC025177, BC008482, BC090042, DA072915, L06132

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      133971871..134070987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009822.1XP_016865311.1  voltage-dependent anion-selective channel protein 1 isoform X1

      UniProtKB/Swiss-Prot
      P21796
      UniProtKB/TrEMBL
      A0A1L1UHR1
      Conserved Domains (1) summary
      cd07306
      Location:4282
      Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
    2. XM_005272075.3XP_005272132.1  voltage-dependent anion-selective channel protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005272132.1

      UniProtKB/Swiss-Prot
      P21796
      UniProtKB/TrEMBL
      A0A1L1UHR1
      Conserved Domains (1) summary
      cd07306
      Location:4282
      Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
    3. XM_017009823.1XP_016865312.1  voltage-dependent anion-selective channel protein 1 isoform X1

      UniProtKB/Swiss-Prot
      P21796
      UniProtKB/TrEMBL
      A0A1L1UHR1
      Related
      ENSP00000378484.3, ENST00000395044.7
      Conserved Domains (1) summary
      cd07306
      Location:4282
      Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
    4. XM_017009821.1XP_016865310.1  voltage-dependent anion-selective channel protein 1 isoform X1

      UniProtKB/Swiss-Prot
      P21796
      UniProtKB/TrEMBL
      A0A1L1UHR1
      Related
      ENSP00000378487.2, ENST00000395047.6
      Conserved Domains (1) summary
      cd07306
      Location:4282
      Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
    Support Center