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

VDAC1 Gene

protein-coding   GIFtS: 61
GCID: GC05M133307

voltage-dependent anion channel 1
 Explore 57 diseases affiliated with
VDAC1 via
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our new
 Human Malady Compendium 
Biological research products
for VDAC1    

Aliases
for VDAC1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Voltage-Dependent Anion Channel 11 2     VDAC-12 3
PORIN1 2     MGC1110641
Outer Mitochondrial Membrane Protein Porin 12 3     Voltage-Dependent Anion-Selective Channel Protein 12
Plasmalemmal Porin2 3     VDAC3
Porin 31HL2 3     HVDAC11
Porin 31HM2 3     

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


Summaries
for VDAC1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
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 plasmid: VDAC1 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:
 133,307,606 bp from pter      End:
 133,340,824 bp from pter
Size:
 33,219 bases      Orientation:
 minus strand

Proteins
for VDAC1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21796

    • VDAC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003365.1  
    ENSEMBL proteins: 
     ENSP00000265333   ENSP00000378484   ENSP00000378487   ENSP00000390129  
    Reactome Protein details: P21796
    Human Recombinant Protein Products: 
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    Uscn Proteins for VDAC1

    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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    Uscn ELISAs and CLIAs for VDAC1

    Protein Domains /
    Families
    for VDAC1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VDAC1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for VDAC1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: VDAC1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


    Animal Models:
         Mouse knock-out Vdac1tm1Wjc for VDAC1
         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


    Pathways & Interactions
    for VDAC1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    		Mitochondrial Apoptosis0.73
    		Cellular Apoptosis Pathway0.65
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Parkinson's disease0.61
    		Huntington's disease0.40
    3BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
    		Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins0.24
    		Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins0.24
    4Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00
    5Mitochondrial Protein Import
    		Mitochondrial Protein Import1.00

    Pathway sources
    See GeneCards unified pathways
    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

    1 Cell Signaling Technology (CST) Pathway for VDAC1
        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

    4         Kegg Pathways  (Kegg details for VDAC1):
        Calcium signaling pathway
    Parkinson's disease
    Huntington's disease
    Influenza A


    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)

    5/338 Interacting proteins for VDAC1 (P217961, 2, 3 ENSP000002653334) via UniProtKB, MINT, STRING, and/or I2D (see all 338)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HK1P193671, 2, 3EBI-354158,EBI-713162 MINT-8079030 I2D: score=1 
    BAK1Q166112, 3, ENSP000003635914MINT-15123 MINT-15124 I2D: score=4 STRING: ENSP00000363591
    CKMT1BP125322, 3, ENSP000003002834MINT-4054731 I2D: score=2 STRING: ENSP00000300283
    CKMT1AP125322, 3MINT-4054731 I2D: score=2 
    ACTBP607092, 3, ENSP000003499604MINT-4054731 I2D: score=1 STRING: ENSP00000349960
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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



    Drugs & Compounds
    for VDAC1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for VDAC1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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:
    ENST00000265333(uc003kyr.2) ENST00000395044 ENST00000395047(uc003kyp.2 uc003kyq.2)
    ENST00000492324 ENST00000489906 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*
    SwitchGear 3'UTR luciferase reporter plasmid: VDAC1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

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

    24/32 DOTS entries (see all 32):

    DT.97861572  DT.95273539  DT.451941  DT.95273565  DT.100880956  DT.120871794  DT.100880950  DT.121297354 
    DT.40129022  DT.95273540  DT.120871767  DT.92460271  DT.100032191  DT.100829458  DT.121318065  DT.120871745 
    DT.86841159  DT.100880947  DT.100880949  DT.100880957  DT.120871717  DT.92460223  DT.97798688  DT.97856586 

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

    BQ684780 CR623138 T08466 L06132 BE272810 CB135784 AA313735 CA414636 
    CR623923 BM844974 BE887494 AL548202 CB154545 AU104463 CR606302 BQ232172 
    CB149386 BM844046 BI253305 BE294537 BG251061 BM665270 BI335741 CB130056 

    GeneLoc Exon Structure


    Expression
    for VDAC1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGACAACAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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: 
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              Hypoxia Signaling Pathway in human mouse rat

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    In Situ
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    Orthologs
    for VDAC1 gene

    (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 eukaryotes.

    Orthologs for VDAC1 gene from 9/28 species (see all 28)    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
    		 --
    		 90(a)
    		 1 ↔ 1
    		 2(130560180-130577513)
    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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons VDAC46
    VDAC16
    (see all 6)    		 mitochondrial outer membrane protein porin 1
    (see all 6)    		 23(a)
    22(a)
    (see all 6)    		 many ↔ many
    many ↔ many
    (see all 6)    		 5(23283680-23285934)
    3(85601-87858)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 5)    		 outer mitochondrial membrane porin, putative, expr...
    outer mitochondrial membrane porin, putative, expr...
    (see all 5)    		 24(a)
    24(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 1(22907136-22909643)
    5(26565524-26569025)


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

    Paralogs
    for VDAC1 gene

    (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


    Genomic Variants
    for VDAC1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/547 NCBI SNPs in VDAC1 are shown (see all 547)     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--128492363(+) GCACA-/ACCTGC 3 -- ds50011Minor allele frequency- A:0.50NA 2
    rs753265301,2
    		--128492461(+) GAATAA/CTATAT 3 -- ds50010--------
    rs1131230011,2
    		C,F,--128493032(+) CTCATC/TAATTA 3 -- nc-transcript-variantut311Minor allele frequency- T:0.02NA 120
    rs749888791,2
    		C,--128493736(+) GGAACC/TCCACT 3 -- int12Minor allele frequency- T:0.05NA 122
    rs133605121,2
    		C,F,H,--128494260(+) TTTATA/GATGAC 3 -- int16Minor allele frequency- G:0.03NS EA CSA WA 540
    rs777328241,2
    		--128494681(+) AGGGTG/ATGCTG 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs779075861,2
    		C,F,--128495745(+) TAAAAA/GTTTTT 3 -- int11Minor allele frequency- G:0.03WA 118
    rs1152898241,2
    		C,F,--128497300(+) AAAAGA/CAGCAG 3 -- int11Minor allele frequency- C:0.07WA 118
    rs775290401,2
    		F,--128498330(+) ACAGTG/ACATAC 3 -- int11Minor allele frequency- A:0.03WA 118
    rs626638611,2
    		--128498816(+) TTTTTC/TCCCCA 3 -- int10--------

    HapMap Linkage Disequilibrium report for VDAC1 (133307606 - 133340824 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VDAC1: --

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    Disorders / Diseases
    for VDAC1 gene

    (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.)
    About This Section
    VDAC1 for disorders           About GeneDecksing

    OMIM gene information: 604492    OMIM disorders: --

    20/57 diseases for VDAC1 (see all 57):    About MalaCards
    allan-herndon-dudley syndrome    disseminated intravascular coagulation    mixed connective tissue disease    connective tissue disease
    typhoid fever    gonorrhea    klebsiella    haemophilus influenzae
    cystic fibrosis    male infertility    gastroenteritis    morbid obesity
    hypertrophic cardiomyopathy    acute lymphoblastic leukemia    chronic lymphocytic leukemia    lymphoblastic leukemia
    lyme disease    lymphocytic leukemia    ulcerative colitis    encephalomyopathy

    10/22 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: VDAC1 (3 documents)

    Export disorders for VDAC1 gene to outside databases

    Publications
    for VDAC1 gene

    (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 475):
    (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. Solution structure of the integral human membrane protein VDAC-1 in detergent micelles. (PubMed id 18755977)1, 2 Hiller S....Wagner G. (2008)
    8. Structure of the human voltage-dependent anion channel. (PubMed id 18832158)1, 2 Bayrhuber M.... Zeth K. (2008)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. Influenza virus PB1-F2 protein induces cell death through mitochondrial ANT3 and VDAC1. (PubMed id 16201016)1, 2 Zamarin D.... Palese P. (2005)

    External Searches for VDAC1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing VDAC1 gene

    (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

    Other Databases showing VDAC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing VDAC1 gene

    (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

    Intellectual Property
    for VDAC1 gene

    (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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