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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VDAC1 Gene

protein-coding   GIFtS: 64
GCID: GC05M133307

Voltage-Dependent Anion Channel 1

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n410154      

Export aliases for VDAC1 gene to outside databases

Previous GC identifers: GC05M132956 GC05M133821 GC05M133338 GC05M133383 GC05M133336 GC05M128492


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with VDAC1 include gonorrhea, and allan-herndon-dudley syndrome, and among its related super-pathways are Mitochondrial Apoptosis and Parkinson's disease. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for VDAC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion outer membrane. Cell membrane
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21796

  • VDAC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VDAC1 Protein Expression
    REFSEQ proteins: NP_003365.1  
    ENSEMBL proteins: 
     ENSP00000378484   ENSP00000265333   ENSP00000378487   ENSP00000390129  
    Reactome Protein details: P21796
    Human Recombinant Protein Products for VDAC1: 
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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS8420959
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ISS--

    VDAC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    VDAC1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008308voltage-gated anion channel activity TAS8420959
    GO:0015288porin activity IEA--
         
    VDAC1 for ontologies           About GeneDecksing


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

    VDAC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vdac1tm1Wjc for VDAC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for VDAC1 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 disease0.61
    Huntington's disease0.47
    3Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins1.00
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    5Influenza A
    Influenza A0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for VDAC1
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    2 Downloadable PowerPoint Slides of QIAGEN 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

    2        Reactome Pathways for VDAC1
        Mitochondrial Protein Import
    Metabolism of proteins

    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


    VDAC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VDAC1

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

    5/359 Interacting proteins for VDAC1 (P217961, 2, 3 ENSP000002653334) via UniProtKB, MINT, STRING, and/or I2D (see all 359)
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    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--

    VDAC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    VDAC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VDAC1

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

    10/103 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)

    Search CenterWatch for drugs/clinical trials and news about VDAC1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/33 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 

    24/825 AceView cDNA sequences (see all 825):

    BE887494 BE271405 BU944043 CB163610 BQ721433 AU119128 BE877826 CR605140 
    BM842967 AL532499 AL526953 CB147310 BU157425 BM665270 AU120090 BE260684 
    AU143407 BU155741 BU168790 BM791688 CR595129 BQ648682 BI869739 BQ232172 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VDAC1 expression in normal human tissues (normalized intensities)      VDAC1 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     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

    See VDAC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VDAC1

    SOURCE GeneReport for Unigene cluster: Hs.519320

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including VDAC1: 
              Drug Transporters in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

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    In Situ
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    (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

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

    Orthologs for VDAC1 gene from 8/17 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_001033869.1  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)
    About This Section
    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

    VDAC1 for paralogs           About GeneDecksing


    5/11 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/683 SNPs in VDAC1 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604492    OMIM disorders: --

    20/53 diseases for VDAC1 (see all 53):    About MalaCards
    gonorrhea    allan-herndon-dudley syndrome    typhoid fever    klebsiella
    disseminated intravascular coagulation    mixed connective tissue disease    cholera    connective tissue disease
    lyme disease    cystic fibrosis    encephalomyopathy    shigellosis
    morbid obesity    gastroenteritis    endocarditis    tetanus
    influenza    hypertrophic cardiomyopathy    male infertility    tuberculosis


    VDAC1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/22 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

    PubMed articles for VDAC1 gene, integrated from 9 sources (see all 487):
    (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. (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. (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. (1994)
    4. Subcellular localization of human voltage-dependent anion channel isoforms. (PubMed id 7539795)1, 2, 9 Yu W.H.... Forte M.A. (1995)
    5. Study of PTPC composition during apoptosis for identification of viral protein target. (PubMed id 15033708)1, 2, 9 Verrier F.... Brenner C. (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. (2001)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Solution structure of the integral human membrane protein VDAC-1 in detergent micelles. (PubMed id 18755977)1, 2 Hiller S....Wagner G. (2008)
    9. Structure of the human voltage-dependent anion channel. (PubMed id 18832158)1, 2 Bayrhuber M.... Zeth K. (2008)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7416 HGNC: 12669 AceView: VDAC1 Ensembl:ENSG00000213585 euGenes: HUgn7416
    ECgene: VDAC1 Kegg: 7416 H-InvDB: VDAC1

    (According to HUGE)
    About This Section
      --

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

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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