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Aliases for VDAC1 Gene

Aliases for VDAC1 Gene

  • Voltage Dependent Anion Channel 1 2 3
  • Outer Mitochondrial Membrane Protein Porin 1 3 4
  • Voltage-Dependent Anion Channel 1 3 5
  • Plasmalemmal Porin 3 4
  • Porin 31HL 3 4
  • Porin 31HM 3 4
  • VDAC-1 3 4
  • HVDAC1 4
  • PORIN 3
  • VDAC 4

External Ids for VDAC1 Gene

Previous GeneCards Identifiers for VDAC1 Gene

  • GC05M132956
  • GC05M133821
  • GC05M133338
  • GC05M133383
  • GC05M133336
  • GC05M133307
  • GC05M128492

Summaries for VDAC1 Gene

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 cystic fibrosis and gerstmann-straussler disease. Among its related pathways are Transport to the Golgi and subsequent modification and Benzodiazepine Pathway, Pharmacodynamics. GO annotations related to this gene include protein kinase binding and voltage-gated anion channel activity. An important paralog of this gene is VDAC3.

UniProtKB/Swiss-Prot for VDAC1 Gene

  • 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 (PubMed:11845315, PubMed:18755977, PubMed:20230784, PubMed:8420959). May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (PubMed:15033708, PubMed:25296756).

Gene Wiki entry for VDAC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VDAC1 Gene

Genomics for VDAC1 Gene

Regulatory Elements for VDAC1 Gene

Promoters for VDAC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VDAC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for VDAC1 Gene

Chromosome:
5
Start:
133,971,875 bp from pter
End:
134,005,389 bp from pter
Size:
33,515 bases
Orientation:
Minus strand

Genomic View for VDAC1 Gene

Genes around VDAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VDAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VDAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VDAC1 Gene

Proteins for VDAC1 Gene

  • Protein details for VDAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21796-VDAC1_HUMAN
    Recommended name:
    Voltage-dependent anion-selective channel protein 1
    Protein Accession:
    P21796
    Secondary Accessions:
    • B3KVK4
    • D3DQ93
    • Q5FVE7
    • Q9UIQ5
    • Q9UPL0

    Protein attributes for VDAC1 Gene

    Size:
    283 amino acids
    Molecular mass:
    30773 Da
    Quaternary structure:
    • Interacts with hexokinases including HK1 (PubMed:8420959, PubMed:22304920). The HK1-VDAC1 complex interacts with ATF2 (PubMed:22304920). Interacts with BCL2L1 (PubMed:18755977, PubMed:25296756). Interacts with BAK1 (PubMed:25296756). Interacts with BOP/C22orf29 (via BH3 domain) (PubMed:23055042). Interacts with beta amyloid and APP; induces VDAC1 dephosphorylation (PubMed:25168729).
    • (Microbial infection) Interacts with influenza A virus PB1-F2 protein.

    Three dimensional structures from OCA and Proteopedia for VDAC1 Gene

neXtProt entry for VDAC1 Gene

Proteomics data for VDAC1 Gene at MOPED

Post-translational modifications for VDAC1 Gene

  • Phosphorylation at Ser-193 by NEK1 promotes the open conformational state preventing excessive mitochondrial membrane permeability and subsequent apoptotic cell death after injury. Phosphorylation by the AKT-GSK3B axis stabilizes the protein probably by preventing ubiquitin-mediated proteasomal degradation.
  • Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys 53, Lys 110, Lys 161, and Lys 252
  • Modification sites at PhosphoSitePlus

Other Protein References for VDAC1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VDAC1 (VDAC1)

No data available for DME Specific Peptides for VDAC1 Gene

Domains & Families for VDAC1 Gene

Gene Families for VDAC1 Gene

Protein Domains for VDAC1 Gene

Suggested Antigen Peptide Sequences for VDAC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21796

UniProtKB/Swiss-Prot:

VDAC1_HUMAN :
  • 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.
  • Belongs to the eukaryotic mitochondrial porin family.
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.
Family:
  • Belongs to the eukaryotic mitochondrial porin family.
genes like me logo Genes that share domains with VDAC1: view

Function for VDAC1 Gene

Molecular function for VDAC1 Gene

GENATLAS Biochemistry:
voltage-dependent anion selective channel 1,mitochondrial outer membrane,tissue specific (skeletal muscle),allowing diffusion of small hydrophilic molecules
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by nitric oxide.
UniProtKB/Swiss-Prot 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 (PubMed:11845315, PubMed:18755977, PubMed:20230784, PubMed:8420959). May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (PubMed:15033708, PubMed:25296756).
genes like me logo Genes that share phenotypes with VDAC1: view

Animal Models for VDAC1 Gene

MGI Knock Outs for VDAC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for VDAC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VDAC1 Gene

Localization for VDAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VDAC1 Gene

Mitochondrion outer membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Membrane raft; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VDAC1 Gene COMPARTMENTS Subcellular localization image for VDAC1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 5
cytosol 4
chloroplast 1
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for VDAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0042645 mitochondrial nucleoid IDA 18063578
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with VDAC1: view

Pathways & Interactions for VDAC1 Gene

genes like me logo Genes that share pathways with VDAC1: view

Pathways by source for VDAC1 Gene

SIGNOR curated interactions for VDAC1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for VDAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transport IEA --
GO:0006915 apoptotic process TAS 10365962
GO:0098656 anion transmembrane transport IEA --
genes like me logo Genes that share ontologies with VDAC1: view

Drugs & Compounds for VDAC1 Gene

(53) Drugs for VDAC1 Gene - From: Novoseek, DGIdb, ApexBio, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroxyaluminium Approved Pharma Target, inhibitor 0
Erastin Pharma 0
OLESOXIME Pharma 0

(52) Additional Compounds for VDAC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for VDAC1 Gene

Compound Action Cas Number
Erastin 571203-78-6
genes like me logo Genes that share compounds with VDAC1: view

Transcripts for VDAC1 Gene

Unigene Clusters for VDAC1 Gene

Voltage-dependent anion channel 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VDAC1 Gene

No ASD Table

Relevant External Links for VDAC1 Gene

GeneLoc Exon Structure for
VDAC1
ECgene alternative splicing isoforms for
VDAC1

Expression for VDAC1 Gene

mRNA expression in normal human tissues for VDAC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VDAC1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for VDAC1 Gene

This gene is overexpressed in Nasal epithelium (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for VDAC1 Gene



SOURCE GeneReport for Unigene cluster for VDAC1 Gene Hs.519320

mRNA Expression by UniProt/SwissProt for VDAC1 Gene

P21796-VDAC1_HUMAN
Tissue specificity: Heart, liver and skeletal muscle.
genes like me logo Genes that share expression patterns with VDAC1: view

Protein tissue co-expression partners for VDAC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for VDAC1 Gene

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

Orthologs for VDAC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VDAC1 35
  • 92.93 (n)
  • 99.29 (a)
VDAC1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VDAC1 35
  • 92.34 (n)
  • 99.65 (a)
VDAC1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vdac1 35
  • 89.87 (n)
  • 98.59 (a)
Vdac1 16
Vdac1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VDAC1 35
  • 100 (n)
  • 100 (a)
VDAC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vdac1 35
  • 89.99 (n)
  • 98.59 (a)
oppossum
(Monodelphis domestica)
Mammalia VDAC1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VDAC1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves VDAC1 35
  • 84.69 (n)
  • 95.41 (a)
VDAC1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VDAC1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11004 35
vdac1 35
  • 78.09 (n)
  • 89.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia vdac1-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.28173 35
vdac1 35
  • 77.15 (n)
  • 85.51 (a)
vdac1 36
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17137 37
  • 33 (a)
porin 37
  • 58 (a)
CG17139 36
  • 19 (a)
ManyToMany
CG17140 36
  • 16 (a)
ManyToMany
porin 36
  • 58 (a)
ManyToMany
Porin2 36
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R05G6.7 37
  • 40 (a)
vdac-1 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POR1 36
  • 24 (a)
ManyToMany
POR2 36
  • 21 (a)
ManyToMany
POR2 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5787 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11255 36
  • 56 (a)
OneToMany
Species with no ortholog for VDAC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VDAC1 Gene

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

Paralogs for VDAC1 Gene

Paralogs for VDAC1 Gene

(2) SIMAP similar genes for VDAC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with VDAC1: view

Variants for VDAC1 Gene

Sequence variations from dbSNP and Humsavar for VDAC1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs4913 -- 133,972,841(-) GTCAG(C/T)TCTTC nc-transcript-variant, reference, missense
rs7404 -- 133,972,170(-) TTTTT(G/T)GCCCT nc-transcript-variant, utr-variant-3-prime
rs452715 -- 133,977,275(+) CACCT(A/G)TGCAT intron-variant
rs1055473 -- 133,981,276(-) TTCTA(C/T)CTAAT intron-variant
rs1056722 -- 133,972,072(-) AGAAT(C/T)TAAAT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for VDAC1 Gene

Variant ID Type Subtype PubMed ID
nsv5009 CNV Insertion 18451855

Variation tolerance for VDAC1 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VDAC1 Gene

HapMap Linkage Disequilibrium report
VDAC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VDAC1 Gene

Disorders for VDAC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for VDAC1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
gerstmann-straussler disease
  • cerebral amyloid angiopathy, prnp-related
- elite association - COSMIC cancer census association via MalaCards
Search VDAC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VDAC1

Genetic Association Database (GAD)
VDAC1
Human Genome Epidemiology (HuGE) Navigator
VDAC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VDAC1
genes like me logo Genes that share disorders with VDAC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VDAC1 Gene

Publications for VDAC1 Gene

  1. Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. (PMID: 8420959) Blachly-Dyson E. … Forte M.A. (J. Biol. Chem. 1993) 3 4 23 67
  2. Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. (PMID: 7517385) Blachly-Dyson E. … Forte M. (Genomics 1994) 2 3 23
  3. VDAC1 cysteine residues: topology and function in channel activity and apoptosis. (PMID: 20192921) Aram L. … Shoshan-Barmatz V. (Biochem. J. 2010) 3 23
  4. Phosphorylation by Nek1 regulates opening and closing of voltage dependent anion channel 1. (PMID: 20230784) Chen Y. … Riley D.J. (Biochem. Biophys. Res. Commun. 2010) 3 23
  5. Paraquat toxicity induced by voltage-dependent anion channel 1 acts as an NADH-dependent oxidoreductase. (PMID: 19717555) Shimada H. … Shimizu S. (J. Biol. Chem. 2009) 3 23

Products for VDAC1 Gene

Sources for VDAC1 Gene

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