Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 7416
Gene name Voltage dependent anion channel 1
Gene symbol VDAC1
Synonyms (NCBI Gene)
PORINVDAC-1
Chromosome 5
Chromosome location 5q31.1
Summary 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.
636 Show/Hide all (636)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63 Show/Hide all (63)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604492 12669 ENSG00000213585
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Pathway Reactome Pathway
Calcium signaling pathway Pink/Parkin Mediated Mitophagy
cGMP-PKG signaling pathway Ub-specific processing proteases
Necroptosis Pyruvate metabolism
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (16)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTHMA — GWAS catalog 32296059
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog 32581359, 37002690
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog 37106081
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES — CTD 19634143
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (122)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28901260
★★★★★
★☆☆☆☆
Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS) Allan-Herndon-Dudley Syndrome BEFREE 8733041
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24063855 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26542804 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 20797535, 27721436, 28571556, 31474832
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 36350974 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 23333625 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Awakening Epilepsy Epilepsy CTD_human_DG 17893921
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28824871
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Cerebral Ischemia BEFREE 30305621, 31017259
★★★★★
★☆☆☆☆
Found in Text Mining only