Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7416
Gene name Gene Name - the full gene name approved by the HGNC.
Voltage dependent anion channel 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VDAC1
Synonyms (NCBI Gene) Gene synonyms aliases
PORIN, VDAC-1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez 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 mitoch
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048331 hsa-miR-106a-5p CLASH 23622248
MIRT048149 hsa-miR-197-3p CLASH 23622248
MIRT047728 hsa-miR-10a-5p CLASH 23622248
MIRT045947 hsa-miR-125b-5p CLASH 23622248
MIRT044747 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001662 Process Behavioral fear response IEA
GO:0005244 Function Voltage-gated monoatomic ion channel activity IDA 8420959
GO:0005515 Function Protein binding IPI 9843949, 16201016, 19130895, 21370995, 22304920, 23055042, 25296756, 25556234, 26387735, 28514442, 29128334, 30021884, 30352685, 31046837, 31206022, 33961781, 35271311
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604492 12669 ENSG00000213585
Protein
UniProt ID P21796
Protein name Non-selective voltage-gated ion channel VDAC1 (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM) (Voltage-dependent anion-selective channel protein 1) (VDAC-1) (hVDAC1)
Protein function Non-selective voltage-gated ion channel that mediates the transport of anions and cations through the mitochondrion outer membrane and plasma membrane (PubMed:10661876, PubMed:11845315, PubMed:18755977, PubMed:30061676, PubMed:8420959). The chan
PDB 2JK4 , 2K4T , 5JDP , 5XDN , 5XDO , 6G6U , 6G73 , 6TIQ , 6TIR , 7QI2 , 8J0O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01459 Porin_3 3 276 Eukaryotic porin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in erythrocytes (at protein level) (PubMed:27641616). Expressed in heart, liver and skeletal muscle (PubMed:8420959). {ECO:0000269|PubMed:27641616, ECO:0000269|PubMed:8420959}.
Sequence
Sequence length 283
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
Necroptosis
Cellular senescence
Neutrophil extracellular trap formation
NOD-like receptor signaling pathway
Cholesterol metabolism
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Shigellosis
Influenza A
Human T-cell leukemia virus 1 infection
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Pink/Parkin Mediated Mitophagy
Ub-specific processing proteases
Pyruvate metabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Asthma Asthma N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37714937
Allan Herndon Dudley syndrome Associate 8733041
Alzheimer Disease Associate 24063855
Alzheimer Disease Stimulate 26542804
Astrocytoma Associate 36350974
Autism Spectrum Disorder Associate 23333625
Breast Neoplasms Associate 33680287, 35729567, 36042412, 36750173, 37834358
Carcinogenesis Associate 26831666, 27069917, 32436862
Carcinoma Hepatocellular Associate 26831666, 27069917, 37717471
Carcinoma Non Small Cell Lung Associate 20646307, 27304056