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Aliases for VDAC1 Gene

Aliases for VDAC1 Gene

  • Voltage Dependent Anion Channel 1 2 3 5
  • Outer Mitochondrial Membrane Protein Porin 1 3 4
  • Plasmalemmal Porin 3 4
  • Porin 31HL 3 4
  • Porin 31HM 3 4
  • VDAC-1 3 4
  • Voltage-Dependent Anion-Selective Channel Protein 1 3
  • Sperm Binding Protein 1a 3
  • 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 Apoptosis and Autophagy and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include protein kinase binding and voltage-gated anion channel activity. An important paralog of this gene is VDAC2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VDAC1 Gene

Genomics for VDAC1 Gene

Regulatory Elements for VDAC1 Gene

Enhancers for VDAC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G133967 1.4 ENCODE dbSUPER 16.8 +36.3 36340 3.8 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 VDAC1 ENSG00000270177 C5orf15 GC05P134006
GH05G134113 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -125.1 -125137 34.1 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B YBX1 ZNF2 YY1 ZNF143 TCF7 C5orf24 VDAC1 SKP1 CDKL3 MTND4LP30 JADE2 CDKN2AIPNL SAR1B UBE2B
GH05G134070 1.5 Ensembl ENCODE dbSUPER 10.2 -66.3 -66263 1.8 HNRNPUL1 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 VDAC1 TCF7 ENSG00000271128 GC05P134014
GH05G134053 1.2 Ensembl ENCODE dbSUPER 10.9 -48.8 -48801 2.1 CTCF MTA2 CEBPB DPF2 TBX21 ZNF121 ZNF366 IKZF1 PRDM10 RELB VDAC1 TCF7 ENSG00000271128 GC05P134014
GH05G134086 1.2 ENCODE dbSUPER 10.9 -84.8 -84828 7.7 HDGF FOXA2 ARID4B FEZF1 ZNF2 ZNF121 ZNF143 FOS ZNF263 SP5 VDAC1 TCF7 SKP1 LOC101060024 LOC105379185
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VDAC1 on UCSC Golden Path with GeneCards custom track

Promoters for VDAC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187008 789 2401 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

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

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 isoforms=53, isoforms=110, Lys161, and Lys252
  • Modification sites at PhosphoSitePlus

Other Protein References for VDAC1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VDAC1 (VDAC1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for 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).

Gene Ontology (GO) - Molecular Function for VDAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005253 anion channel activity IEA --
GO:0005515 protein binding IPI 9843949
GO:0008308 voltage-gated anion channel activity IEA,ISS --
GO:0015288 porin activity IEA --
GO:0019901 protein kinase binding IPI 21370995
genes like me logo Genes that share ontologies with VDAC1: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VDAC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
nucleus 5
cytosol 4
endoplasmic reticulum 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for VDAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA,IEA 20833797
GO:0005741 mitochondrial outer membrane TAS,IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005886 plasma membrane IEA,IDA 25296756
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:0001662 behavioral fear response IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006820 anion transport IEA,IDA 8420959
GO:0006851 mitochondrial calcium ion transport IEA --
genes like me logo Genes that share ontologies with VDAC1: view

Drugs & Compounds for VDAC1 Gene

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

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

(49) 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

Drug Products

Transcripts for VDAC1 Gene

Unigene Clusters for VDAC1 Gene

Voltage-dependent anion channel 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for VDAC1 Gene



Protein tissue co-expression partners for VDAC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VDAC1 Gene:

VDAC1

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.

Evidence on tissue expression from TISSUES for VDAC1 Gene

  • Nervous system(5)
  • Skin(4.8)
  • Liver(4.7)
  • Lung(4.7)
  • Muscle(4.7)
  • Blood(4.4)
  • Heart(3.9)
  • Intestine(3.3)
  • Kidney(3.1)
  • Stomach(2.4)
  • Adrenal gland(2.2)
  • Pancreas(2.2)
  • Spleen(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with VDAC1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for VDAC1 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia VDAC1 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia VDAC1 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VDAC1 34 35
  • 92.93 (n)
dog
(Canis familiaris)
Mammalia VDAC1 34 35
  • 92.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VDAC1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vdac1 34
  • 89.99 (n)
mouse
(Mus musculus)
Mammalia Vdac1 34 16 35
  • 89.87 (n)
chicken
(Gallus gallus)
Aves VDAC1 34 35
  • 84.69 (n)
lizard
(Anolis carolinensis)
Reptilia VDAC1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vdac1 34
  • 78.09 (n)
Str.11004 34
African clawed frog
(Xenopus laevis)
Amphibia vdac1-prov 34
zebrafish
(Danio rerio)
Actinopterygii vdac1 34 35
  • 77.15 (n)
Dr.28173 34
fruit fly
(Drosophila melanogaster)
Insecta porin 36 35
  • 58 (a)
Porin2 35
  • 34 (a)
ManyToMany
CG17137 36
  • 33 (a)
CG17139 35
  • 19 (a)
ManyToMany
CG17140 35
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R05G6.7 36
  • 40 (a)
vdac-1 35
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POR1 35
  • 24 (a)
ManyToMany
POR2 35 37
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11255 35
  • 56 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5787 34
Species where no ortholog for VDAC1 was found in the sources mined by GeneCards:
  • 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
rs1000019383 -- 133,983,859(+) CGTGT(A/G)GCACC intron-variant
rs1000072485 -- 134,017,386(+) TGGAG(C/G)TGGAG intron-variant
rs1000081127 -- 134,039,610(+) AGGCG(G/T)GAGCC intron-variant
rs1000096592 -- 133,997,430(+) GGGTG(A/G)CTCAT intron-variant
rs1000103839 -- 133,973,384(+) ACTAT(A/T)ATACG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1126723 CNV deletion 24896259
nsv5009 CNV insertion 18451855
nsv964938 CNV duplication 23825009
nsv980726 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VDAC1

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

Disorders for VDAC1 Gene

MalaCards: The human disease database

(3) 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
retinitis pigmentosa 14
  • rp14
- 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. 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 4 22 64
  2. Study of PTPC composition during apoptosis for identification of viral protein target. (PMID: 15033708) Verrier F. … Brenner C. (Ann. N. Y. Acad. Sci. 2003) 3 4 22 64
  3. Gadolinium as an opener of the outwardly rectifying Cl(-) channel (ORCC). Is there relevance for cystic fibrosis therapy? (PMID: 11845315) Thinnes F.P. … Hilschmann N. (Pflugers Arch. 2001) 3 4 22 64
  4. Subcellular localization of human voltage-dependent anion channel isoforms. (PMID: 7539795) Yu W.H. … Forte M.A. (J. Biol. Chem. 1995) 3 4 22 64
  5. 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 22 64

Products for VDAC1 Gene

Sources for VDAC1 Gene

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