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VDAC1 Gene

protein-coding   GIFtS: 64
GCID: GC05M133307

Voltage-Dependent Anion Channel 1

  See VDAC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Voltage-Dependent Anion Channel 11 2     VDAC-12 3
Outer Mitochondrial Membrane Protein Porin 12 3     PORIN2
Plasmalemmal Porin2 3     Voltage-Dependent Anion-Selective Channel Protein 12
Porin 31HL2 3     VDAC3
Porin 31HM2 3     hVDAC13

External Ids:    HGNC: 126691   Entrez Gene: 74162   Ensembl: ENSG000002135857   OMIM: 6044925   UniProtKB: P217963   

Export aliases for VDAC1 gene to outside databases

Previous GC identifers: GC05M132956 GC05M133821 GC05M133338 GC05M133383 GC05M133336 GC05M128492


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VDAC1 Gene:
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)

GeneCards Summary for VDAC1 Gene:
VDAC1 (voltage-dependent anion channel 1) is a protein-coding gene. Diseases associated with VDAC1 include gonorrhea, and cystic fibrosis. GO annotations related to this gene include voltage-gated anion channel activity and porin activity. An important paralog of this gene is VDAC2.

UniProtKB/Swiss-Prot: VDAC1_HUMAN, P21796
Function: Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at
the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is
involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane
potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity
whereas the closed state is cation-selective. May participate in the formation of the permeability transition
pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis

Gene Wiki entry for VDAC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VDAC1 gene promoter:
         Bach1   SRY   POU2F1   Pax-5   AP-1   POU2F1a   ATF-2   MyoD   c-Jun   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVDAC1 promoter sequence
   Search Chromatin IP Primers for VDAC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VDAC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31

VDAC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VDAC1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M133307:  view genomic region     (about GC identifiers)

Start:
133,307,566 bp from pter      End:
133,340,824 bp from pter
Size:
33,259 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VDAC1_HUMAN, P21796 (See protein sequence)
Recommended Name: Voltage-dependent anion-selective channel protein 1  
Size: 283 amino acids; 30773 Da
Subunit: Interacts with hexokinases (By similarity). Interacts with BCL2L1. Interacts with BOP/C22orf29 (via BH3
domain). Interacts with influenza A virus PB1-F2 protein. Interacts with HK1. The HK1-VDAC1 complex interacts
with ATF2 (By similarity)
2 PDB 3D structures from and Proteopedia for VDAC1:
2JK4 (3D)        2K4T (3D)    
Secondary accessions: B3KVK4 D3DQ93 Q5FVE7 Q9UIQ5 Q9UPL0

Explore the universe of human proteins at neXtProt for VDAC1: NX_P21796

Explore proteomics data for VDAC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys20, Lys109, Lys252, Lys266
  • Modification sites at PhosphoSitePlus

  • See VDAC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003365.1  
    ENSEMBL proteins: 
     ENSP00000378484   ENSP00000265333   ENSP00000378487   ENSP00000390129  
    Reactome Protein details: P21796

    VDAC1 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for VDAC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VDAC: Voltage-dependent anion channels

    3 InterPro protein domains:
     IPR027246 Porin_Euk/Tom40
     IPR001925 Porin_Euk
     IPR023614 Porin_dom

    Graphical View of Domain Structure for InterPro Entry P21796

    ProtoNet protein and cluster: P21796

    1 Blocks protein domain: IPB001925 Porin

    UniProtKB/Swiss-Prot: VDAC1_HUMAN, P21796
    Domain: Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands. The helical N-terminus folds
    back into the pore opening and plays a role in voltage-gated channel activity
    Similarity: Belongs to the eukaryotic mitochondrial porin family


    Find genes that share domains with VDAC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VDAC1_HUMAN, P21796
    Function: Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at
    the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is
    involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane
    potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity
    whereas the closed state is cation-selective. May participate in the formation of the permeability transition
    pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis

         Genatlas biochemistry entry for VDAC1:
    voltage-dependent anion selective channel 1,mitochondrial outer membrane,tissue specific (skeletal
    muscle),allowing diffusion of small hydrophilic molecules

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008308voltage-gated anion channel activity TAS8420959
    GO:0015288porin activity IEA--
         
    Find genes that share ontologies with VDAC1           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Vdac1):
     behavior/neurological  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with VDAC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Vdac1tm1Wjc for VDAC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VDAC1
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    miRNA
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    miRTarBase miRNAs that target VDAC1:
    hsa-mir-106a-5p (MIRT048331), hsa-mir-320c (MIRT036168), hsa-mir-10a-5p (MIRT047728), hsa-mir-125b-5p (MIRT045947), hsa-mir-197-3p (MIRT048149), hsa-mir-1301-3p (MIRT036008), hsa-mir-744-5p (MIRT037391), hsa-mir-877-5p (MIRT037371), hsa-mir-615-3p (MIRT039673), hsa-mir-320a (MIRT044747)

    Block miRNA regulation of human, mouse, rat VDAC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VDAC1 (see all 10):
    hsa-miR-320a hsa-miR-16-2* hsa-miR-320d hsa-miR-7 hsa-miR-320b hsa-miR-9* hsa-miR-4310 hsa-miR-195*
    SwitchGear 3'UTR luciferase reporter plasmidVDAC1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VDAC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VDAC1_HUMAN, P21796: Mitochondrion outer membrane. Cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane5
    cytosol3
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ISS--

    Find genes that share ontologies with VDAC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VDAC1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Cellular Apoptosis Pathway0.85
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    Huntington's disease0.45
    3Influenza A
    Influenza A0.34
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    5Mitochondrial Protein Import
    Mitochondrial Protein Import


    Find genes that share SuperPaths with VDAC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for VDAC1
        Mitochondrial Apoptosis
    Cellular Apoptosis Pathway

    2 Cell Signaling Technology (CST) Pathways for VDAC1
        Apoptosis and Autophagy
    Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for VDAC1
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins


    1 Reactome Pathway for VDAC1
        Mitochondrial protein import

    1 PharmGKB Pathway for VDAC1
        Benzodiazepine Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for VDAC1):
        Calcium signaling pathway
    Parkinson's disease
    Huntington's disease
    Influenza A
    HTLV-I infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VDAC1: 
              Drug Transporters in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for VDAC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VDAC1 (P217961, 2, 3 ENSP000002653334) via UniProtKB, MINT, STRING, and/or I2D (see all 416)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HK1P193671, 2, 3EBI-354158,EBI-713162 MINT-8079030 I2D: score=1 
    CSNK2BP678702, 3MINT-8253770 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253770 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253770 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253770 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001662behavioral fear response IEA--
    GO:0006820anion transport TAS8420959
    GO:0006915apoptotic process TAS10365962
    GO:0007268synaptic transmission ----
    GO:0007270neuron-neuron synaptic transmission IEA--

    Find genes that share ontologies with VDAC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VDAC1

    1 DrugBank Compound for VDAC1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dihydroxyaluminium-- 13682-92-3targetinhibitor1694685 2469483

    Selected Novoseek inferred chemical compound relationships for VDAC1 gene (see all 103)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptpc 74.2 5 10620603 (1), 11175251 (1), 15377997 (1), 19693275 (1) (see all 5)
    imipenem 57.6 11 10698994 (2), 12604564 (2), 12589810 (1), 10952609 (1) (see all 9)
    cefoxitin 53.7 8 8834877 (2), 19686282 (1), 11034276 (1), 15668019 (1) (see all 5)
    lipid 52.4 65 17336328 (4), 7681063 (2), 8703976 (2), 10479618 (2) (see all 51)
    cefepime 51.7 3 10581197 (1), 9846735 (1), 15668019 (1)
    atp 51.5 47 7529026 (5), 16354668 (2), 20032281 (2), 20205711 (2) (see all 30)
    ertapenem 51.3 1 17576696 (1)
    beta-lactam 48.7 7 11454211 (1), 8314292 (1), 15155215 (1), 19434239 (1) (see all 5)
    maltodextrin 47.4 2 10074088 (1), 7925308 (1)
    polymyxin b 45.6 4 8567029 (1), 15155667 (1), 8380280 (1)



    Find genes that share compounds with VDAC1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VDAC1 gene: 
    NM_003374.2  

    Unigene Cluster for VDAC1:

    Voltage-dependent anion channel 1
    Hs.519320  [show with all ESTs]
    Unigene Representative Sequence: AK122953
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395044 ENST00000265333(uc003kyr.2) ENST00000395047(uc003kyp.2 uc003kyq.2)
    ENST00000489906 ENST00000492324 ENST00000425992 ENST00000466080
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    hsa-miR-320a hsa-miR-16-2* hsa-miR-320d hsa-miR-7 hsa-miR-320b hsa-miR-9* hsa-miR-4310 hsa-miR-195*
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    Additional mRNA sequence: 

    AK095989.1 AK122953.1 AK293639.1 BC008482.1 BC071168.1 BC090042.1 L06132.1 NR_036624.1 
    NR_036625.1 

    Selected DOTS entries (see all 33):

    DT.97861572  DT.95273539  DT.451941  DT.95273565  DT.120871794  DT.100880956  DT.100880950  DT.121297354 
    DT.95273540  DT.40129022  DT.120871767  DT.92460271  DT.100032191  DT.100829458  DT.121318065  DT.120871692 
    DT.120871745  DT.86841159  DT.100880947  DT.100880949  DT.100880957  DT.120871717  DT.92416501  DT.92460223 

    Selected AceView cDNA sequences (see all 825):

    BG574188 BQ232172 BQ687780 BE887494 CD242881 BU148785 CR612480 BG029137 
    F11254 BU540504 AU104457 AU118465 BM665270 AU280187 CR617397 BG698774 
    AA053367 BG679865 CB130056 AU104462 AA025179 AU119128 CR619959 AI752558 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VDAC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGACAACAC
    VDAC1 Expression
    About this image


    VDAC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    VDAC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VDAC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519320

    UniProtKB/Swiss-Prot: VDAC1_HUMAN, P21796
    Tissue specificity: Heart, liver and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VDAC1: 
              Drug Transporters in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VDAC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for VDAC1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vdac11 , 5 voltage-dependent anion channel 11, 5 89.87(n)1
    98.59(a)1
      11 (31.86 cM)5
    223331  NM_011694.41  NP_035824.11 
     523608605 
    chicken
    (Gallus gallus)
    Aves VDAC11 voltage-dependent anion channel 1 84.69(n)
    95.41(a)
      416320  NM_001033869.2  NP_001029041.1 
    lizard
    (Anolis carolinensis)
    Reptilia VDAC16
    voltage-dependent anion channel 1
    79(a)
    1 ↔ 1
    2(130560180-130589806)
    African clawed frog
    (Xenopus laevis)
    Amphibia vdac1-prov2 voltage-dependent anion channel 1 78.83(n)    BC046577.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.281732 Danio rerio clone RK078A3F07 voltage-dependent anion more 79.47(n)    AY398429.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta porin3 mitochondrial transport
    voltage-dependent ion-selective
    more
    58(a)
    (best of 2)
      32B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea R05G6.73 Channel Protein 40(a)   IV(7506758-7507930)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POR2(YIL114C)4 Putative mitochondrial porin (voltage-dependent anion more   --   9(149988-149143) 854692  NP_012152.1 


    ENSEMBL Gene Tree for VDAC1 (if available)
    TreeFam Gene Tree for VDAC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VDAC1 gene
    VDAC22  VDAC32  
    2 SIMAP similar genes for VDAC1 using alignment to 3 protein entries:     VDAC1_HUMAN (see all proteins):
    VDAC2    VDAC3

    Find genes that share paralogs with VDAC1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for VDAC1 (see all 11)
    PGOHUM00000242159 PGOHUM00000239465 PGOHUM00000248358 PGOHUM00000245106 PGOHUM00000245206


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for VDAC1 (see all 683)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348563281,2
    C--133307416(+) GCACA-/ACCTGC 3 -- ds50011Minor allele frequency- A:0.50NA 2
    rs344042571,2
    C--133313859(+) TTTTT-/T/TT  
            
    CCCCA
    3 -- int11CSA 2
    rs1117556711,2
    C,F--133318186(+) CGACAG/CAGTAA 3 -- int11Minor allele frequency- C:0.50NA 2
    rs2002572851,2
    C--133324957(+) AGAAA-/GAAA  
            
    AAAAA
    3 -- int10--------
    rs587776591,2
    C--133325352(+) GACTC-/TTTTTT 3 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs58715171,2
    C--133336406(+) CTGGAT/-TGGCG 3 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs356063241,2
    C,F--133338656(+) AAAAA-/A/AA  
            
    GTCCA
    3 -- int12NA CSA 4
    rs354367651,2
    C--133339316(+) GTAGC-/CAAAAT 3 -- int10--------
    rs42793831,2
    C,F,A,H--133581797(+) aaaagA/Ggttgg 3 -- ds500131Minor allele frequency- N:0.00NS EA NA WA CSA 2965
    rs1809464201,2
    --133581828(+) GGAAGC/TGTGAG 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for VDAC1 (133307566 - 133340824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for VDAC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5009CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VDAC1
    DNA2.0 Custom Variant and Variant Library Synthesis for VDAC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604492    OMIM disorders: --

    2 diseases for VDAC1:    
    About MalaCards
    gonorrhea    cystic fibrosis


    Find genes that share disorders with VDAC1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for VDAC1 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gonorrhea 37 1 10438365 (1)
    cystic fibrosis 33.9 13 12235488 (2), 1707632 (2), 9433706 (1), 7993658 (1) (see all 9)
    shock endotoxic 20.7 2 1321849 (1), 1335527 (1)
    mitochondrial diseases 10.8 2 20110367 (1)
    typhoid fever 5.26 9 8222322 (4), 8384733 (2), 8427032 (1)
    salmonella infections 3.42 1 8409588 (1)
    sepsis 3.37 1 16045546 (1)
    carcinoma 1.54 2 20132430 (1), 17017437 (1)
    inflammation 0.78 2 1321849 (1), 1335527 (1)
    cholera 0 1 12794078 (1)

    Genetic Association Database (GAD): VDAC1
    Human Genome Epidemiology (HuGE) Navigator: VDAC1 (3 documents)

    Export disorders for VDAC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for VDAC1 gene, integrated from 10 sources (see all 491):
    (articles sorted by number of sources associating them with VDAC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. (PubMed id 8420959)1, 2, 9 Blachly-Dyson E.... Forte M.A. (J. Biol. Chem. 1993)
    2. Studies on human porin. IV. The primary structures of 'Porin 31HM' purified from human skeletal muscle membranes and of 'Porin 31HL' derived from human B lymphocyte membranes are identical. (PubMed id 1657034)1, 2, 9 Juergens L.... Hilschmann N. (Biol. Chem. Hoppe-Seyler 1991)
    3. Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. (PubMed id 7517385)1, 3, 9 Blachly-Dyson E.... Forte M. (Genomics 1994)
    4. Subcellular localization of human voltage-dependent anion channel isoforms. (PubMed id 7539795)1, 2, 9 Yu W.H.... Forte M.A. (J. Biol. Chem. 1995)
    5. Study of PTPC composition during apoptosis for identification of viral protein target. (PubMed id 15033708)1, 2, 9 Verrier F.... Brenner C. (Ann. N. Y. Acad. Sci. 2003)
    6. Gadolinium as an opener of the outwardly rectifying Cl(-) channel (ORCC). Is there relevance for cystic fibrosis therapy? (PubMed id 11845315)1, 2, 9 Thinnes F.P.... Hilschmann N. (Pflugers Arch. 2001)
    7. PKCI/ promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. (PubMed id 22304920)1, 2 Lau E....Ronai Z.A. (Cell 2012)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. Solution structure of the integral human membrane protein VDAC-1 in detergent micelles. (PubMed id 18755977)1, 2 Hiller S....Wagner G. (Science 2008)
    10. Structure of the human voltage-dependent anion channel. (PubMed id 18832158)1, 2 Bayrhuber M.... Zeth K. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7416 HGNC: 12669 AceView: VDAC1 Ensembl:ENSG00000213585 euGenes: HUgn7416
    ECgene: VDAC1 Kegg: 7416 H-InvDB: VDAC1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for VDAC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VDAC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for VDAC1 gene:
    Search GeneIP for patents involving VDAC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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