VDAC1: Voltage-Dependent Anion Channel 1
Key mitochondrial porin regulating metabolism, apoptosis, and ion transport
Gene Information Card
| Symbol | VDAC1 |
|---|---|
| Full Name | Voltage Dependent Anion Channel 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q34.1 |
| NCBI Gene ID | 7416 ncbi.nlm.nih.gov/gene/7416 |
| Ensembl ID | ENSG00000213585 |
| UniProt ID | P21796 |
| OMIM ID | 604492 |
| HGNC ID | 12669 |
| Aliases | VDAC, PORIN, HVDAC1 |
Description
VDAC1 encodes the voltage-dependent anion channel 1, a major mitochondrial outer membrane porin that mediates the transport of metabolites, ions, and nucleotides. It plays a critical role in cellular energy metabolism, apoptosis regulation, and calcium homeostasis. VDAC1 interacts with pro- and anti-apoptotic proteins, influencing mitochondrial membrane permeability and cell death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | VDAC1 overexpression promotes metabolic reprogramming and resistance to apoptosis | PMID: 25620004 |
| Alzheimer's disease | VDAC1 interacts with amyloid-beta, leading to mitochondrial dysfunction and oxidative stress | PMID: 28890335 |
| Cardiovascular diseases | VDAC1-mediated mitochondrial permeability transition pore (mPTP) opening contributes to ischemia-reperfusion injury | PMID: 27542527 |
| Diabetes mellitus type 2 | VDAC1 dysregulation affects mitochondrial metabolism and insulin secretion | PMID: 29371429 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Heart | 38.7 | High |
| Brain | 32.1 | Medium |
| Skeletal muscle | 28.5 | Medium |
| Kidney | 25.9 | Medium |
| Lung | 18.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 52.4 | High expression in embryonic kidney cells |
| HeLa | 48.1 | High expression in cervical cancer cells |
| SH-SY5Y | 35.6 | Moderate expression in neuroblastoma cells |
| HepG2 | 42.3 | High expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472G>A (p.Gly158Arg) | Missense | Rare | Altered channel conductance and reduced metabolite transport |
| c.689C>T (p.Thr230Met) | Missense | Rare | Impaired interaction with hexokinase, affecting glycolysis |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression, potential dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce channel conductance or protein stability, impairing metabolite exchange and mitochondrial function.
Gain of Function (GOF)
Not well-documented; some variants may increase channel open probability, enhancing apoptosis sensitivity.
Dominant Negative (DN)
Start loss mutations or those disrupting oligomerization may exert dominant-negative effects by interfering with wild-type VDAC1 assembly.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated anion channel activity (GO:0008308) | • porin activity (GO:0015288) |
| • mitochondrial outer membrane (GO:0005741) | • apoptotic process (GO:0006915) |
| • transport (GO:0006810) | • transmembrane transport (GO:0055085) |
Pathways
• KEGG:05010 - Alzheimer disease
• KEGG:04210 - Apoptosis
• KEGG:04020 - Calcium signaling pathway
• Reactome: R-HSA-114608 - Platelet degranulation
• Reactome: R-HSA-111461 - Mitochondrial protein import
Protein Summary
VDAC1 is a 283-amino acid protein forming a beta-barrel channel in the mitochondrial outer membrane. It facilitates the diffusion of small molecules (e.g., ATP, ADP, NADH) and ions, and serves as a docking site for kinases (e.g., hexokinase) and Bcl-2 family proteins. Its voltage-dependent gating and oligomerization regulate mitochondrial permeability and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VDAC1 Knockout HeLa Cell Line | EDJ-KQ18275 | Human | 7416 | Details Get a Quote |
| VDAC1 Knockout HEK293 Cell Line | EDJ-KQ50707 | Human | 7416 | Details Get a Quote |
| VDAC1 Knockout A-549 Cell Line | EDJ-KQ63229 | Human | 7416 | Details Get a Quote |
| VDAC1 Knockout HCT 116 Cell Line | EDJ-KQ71694 | Human | 7416 | Details Get a Quote |
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