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

Gene ID: 7416, updated on 7-Oct-2018

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; Vega:OTTHUMG00000129118
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 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (133971875..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 uncharacterized LOC105379182 Neighboring gene uncharacterized LOC105379183 Neighboring gene chromosome 5 open reading frame 15 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 Jun 15 11:32:44 2016

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 
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 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
macroautophagy TAS
Traceable Author Statement
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 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 

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_027817.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_003374.2NP_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, AK095989, BC008482, L06132
    Consensus CDS
    CCDS4168.1
    UniProtKB/Swiss-Prot
    P21796
    UniProtKB/TrEMBL
    A0A1L1UHR1, B3KTS5
    Related
    ENSP00000265333.3, OTTHUMP00000165946, ENST00000265333.7, OTTHUMT00000259208
    Conserved Domains (1) summary
    cd07306
    Location:4282
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane

RNA

  1. NR_036624.1 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)
    BC008482, DA072915, DB475162, L06132
  2. NR_036625.1 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)
    BC008482, BC090042, DA072915, DB475162, L06132

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    133971875..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, OTTHUMP00000165947, ENST00000395044.7, OTTHUMT00000259209
    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, OTTHUMP00000159381, ENST00000395047.6, OTTHUMT00000251164
    Conserved Domains (1) summary
    cd07306
    Location:4282
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
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