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FLASH GENE
Symbol VDAC1 contributors: mct/shn - updated : 02-02-2016
HGNC name voltage-dependent anion channel 1
HGNC id 12669
Corresponding disease
MTENC4 mitochondrial encephalomyopathy, fatal in childhood 4
Location 5q31.1      Physical location : 133.307.606 - 133.340.433
Synonym name
  • outer mitochondrial membrane protein porin 1
  • plasmalemmal porin
  • porin 31HL
  • porin 31HM
  • voltage-dependent anion-selective channel protein
  • Synonym symbol(s) PORIN, PORIN-31-HL, hVDAC1, MGC111064
    DNA
    TYPE functioning gene
    STRUCTURE 32.83 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure
  • a sterol repressor element
  • a SRY
  • a NRF2 binding sites
  • MAPPING cloned Y linked N status confirmed
    Map cen - D5S2117 - D5S2053 - VDAC1 - D5S808 - D5S458 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1993 30.8 283 - -
    9 splicing 2074
    9 splicing 2071
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Digestiveesophagus   highly
     intestinelarge intestinecolon moderately
     liver   moderately
    Lymphoid/Immunethymus   moderately
    Nervousbrain   moderately
    Reproductivefemale systembreastmammary gland moderately
     male systemtestis  highly Homo sapiens
    Skin/Tegumentskin   highly
    Urinarybladder   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  moderately
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveSertoli cell
    Reproductivespermatozoa Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain indicated to be a main effector in the apoptotic events depending on VDAC1
  • conjugated PhosphoP , Other
    HOMOLOGY
    interspecies ortholog to Vdac, Rattus norvegicus
    ortholog to Vdac1, Mus musculus
    ortholog to VDAC1, Pan troglodytes
    ortholog to vdac1, Danio rerio
    Homologene
    FAMILY
  • eukaryotic mitochondrial porin family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    text located in human spermatozoa, especially in sperm flagella
    basic FUNCTION
  • allowing diffusion of small hydrophilic molecules
  • acting as an apoptogenic cytochrome c release channel
  • mitochondrial porin, main pathway for metabolites across the mitochondrial outer membrane and that may serve as binding sites for kinases, including hexokinase
  • acting as a NADH-ferricyanide reductase
  • involved in the maintenance of cellular redox homeostasis
  • playing a vital role in modulating ES-induced endothelial cell apoptosis
  • involved in cell volume regulation
  • may participate in the formation of the permeability transition pore complex responsible for the release of mitochondrial products that triggers apoptosis
  • with others VDACs, are dispensable for both mitochondrial permeability transition and BCL2 family member-driven cell death
  • mitochondrial porin, identified in the mitochondrial outer membrane that is able to form hydrophilic pore structures
  • pore-forming proteins mainly located in the mitochondrial outer membrane
  • roles in human sperm motility, capacitation and acrosomal reaction
  • E72Q-VDAC1 has a dominant-negative effect and implies that VDAC1 homo-oligomerization, involving intermolecular interactions, might be involved in the apoptotic process
  • most abundant protein in the mitochondrial outer membrane
  • VDAC1, VDAC2, VDAC3 serve as mitochondrial docking sites to recruit PRKN from the cytosol to defective mitochondria
  • VDAC1 and SLC25A4 have central roles in mitochondrial functions such as nucleotides transport and cell death
  • VDAC1 serves distinct functions as outer membrane channel for metabolites and as coupling factor for protein translocation into the inner membrane
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    text ion transport
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with cyclophilin D (PPID) and adenine nucleotide translocases (SLC25A4, SLC25A5, ANT3X) at the inner mitochondrial permeability transition pore
  • acetylation
  • CPT1A forms hetero-oligomeric complexes with ACSL1 and VDAC1 and is part of an outer membrane fatty acid transfer complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • translocase of outer mitochondrial membrane 20 homolog (yeast), TOMM20
  • neisserial porin PorB
  • Mitochondrial creatine kinase, MtCK
  • C-Raf kinase
  • tubulin
  • bcl-2 interacting protein Bim
  • protein kinase Cepsilon, PKCepsilon
  • pro-apoptotic Bax and anti-apoptotic Bcl-X(L)
  • dynein light chain Tctex1 and the heat-shock protein PBP74
  • hexokinases
  • direct interaction between NEK1 and VDAC1 providing a mechanism to explain how NEK1 prevents excessive cell death, as well as the first direct evidence that a specific kinase regulates VDAC1 activity
  • binding HK1 and HK2, in the outer mitochondrial membrane (VDAC1-based peptides interfering with HK-mediated anti-apoptotic activity may potentiate the efficacy of conventional chemotherapeutic agents)
  • a target for Parkin-mediated Lys 27 poly-ubiquitylation and mitophagy
  • strong protein-protein interaction between CPT1A, ACSL1, and VDAC1
  • mediating BCL2L1 protection against apoptosis (BCL2L1 acting as antiapoptotic protein, promoting tumor cell survival via binding to VDAC1)
  • binding of PLAT to VDAC1 induced a decrease in K(m) and an increase in the V(max) for activation of its substrate, plasminogen (Pg)
  • MCU interacts with VDAC1 and mediates VDAC1 overexpression-induced cell death in cerebellar granule neurons (CGNs)
  • VDAC1 interacts with carrier precursors arriving in the intermembrane space and recruits TIMM22 complexes, thus ensuring an efficient transfer of the precursors to the inner membrane translocase
  • VDAC1 and VDAC2 are mitochondrial ceramide binding proteins
  • cell & other
    REGULATION
    induced by thiol chelators for the NADH-dependent ferricyanide reduction
    Other target for Parkin-mediated polyubiquitination and mitophagy
    ASSOCIATED DISORDERS
    corresponding disease(s) MTENC4
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS