VDAC1
Non-selective voltage-gated ion channel VDAC1
Also known as: MGC111064, PORIN, VDAC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P21796
- Gene
- VDAC1
- Ensembl
- ENSG00000213585
- Chromosome
- 5
- Canonical length
- 283 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Quaternary structure
- Homotrimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
283 residues, UniProt reviewed canonical sequence.
>P21796|VDAC1
1 MAVPPTYADL GKSARDVFTK GYGFGLIKLD LKTKSENGLE FTSSGSANTE TTKVTGSLET
61 KYRWTEYGLT FTEKWNTDNT LGTEITVEDQ LARGLKLTFD SSFSPNTGKK NAKIKTGYKR
121 EHINLGCDMD FDIAGPSIRG ALVLGYEGWL AGYQMNFETA KSRVTQSNFA VGYKTDEFQL
181 HTNVNDGTEF GGSIYQKVNK KLETAVNLAW TAGNSNTRFG IAAKYQIDPD ACFSAKVNNS
241 SLIGLGYTQT LKPGIKLTLS ALLDGKNVNA GGHKLGLGLE FQALocalizationUniProt · AlphaFold · HPA
Whether an antibody against VDAC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 19
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 980 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 980 nTPM
- tongue: 758 nTPM
- heart muscle: 378 nTPM
- retina: 293 nTPM
- duodenum: 250 nTPM
- choroid plexus: 226 nTPM
Single-cell type
- parietal cells: 1,169 nCPM
- esophageal apical cells: 934 nCPM
- esophageal suprabasal cells: 516 nCPM
- migrating cytotrophoblasts: 513 nCPM
- extravillous trophoblasts: 508 nCPM
- esophageal basal cells: 447 nCPM
Immune cell
- myeloid DC: 141 nTPM
- intermediate monocyte: 118 nTPM
- non-classical monocyte: 106 nTPM
- NK-cell: 88 nTPM
- classical monocyte: 83 nTPM
- T-reg: 75 nTPM
Brain region
- choroid plexus: 229 nTPM
- cerebral cortex: 185 nTPM
- hypothalamus: 172 nTPM
- pons: 165 nTPM
- thalamus: 159 nTPM
- medulla oblongata: 153 nTPM
ReferencesPubMed · IEDB
Publications for VDAC1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
2 publications
- Identification and validation of serum autoantibodies in children with B-cell acute lymphoblastic leukemia by serological proteome analysis.
2022 · Proteome Sci · RCR 0.6 · 7 citations - Human voltage-dependent anion selective channel 1 is a target antigen for antiglomerular endothelial cell antibody in mixed connective tissue disease.
2008 · Mod Rheumatol · RCR 0.1 · 5 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.31
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 1.33
- DepMap mean gene effect
- -0.76
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- behavioral fear response
- calcium import into the mitochondrion
- epithelial cell differentiation
- learning
- lipid transport
- mitochondrial transmembrane transport
- monoatomic anion transport
- negative regulation of apoptotic process
- negative regulation of calcium import into the mitochondrion
- negative regulation of reactive oxygen species metabolic process
- neuron-neuron synaptic transmission
- positive regulation of apoptotic process
- positive regulation of mitophagy
- positive regulation of type 2 mitophagy
- pyruvate biosynthetic process
- regulation of autophagy of mitochondrion
Molecular functions
- ATP binding
- ceramide binding
- cholesterol binding
- identical protein binding
- oxysterol binding
- phosphatidylcholine binding
- porin activity
- protein kinase binding
- transmembrane transporter binding
- voltage-gated monoatomic anion channel activity
- voltage-gated monoatomic ion channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VDAC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VDAC1 as an antibody target. Whether an autoantibody or antibody against VDAC1 could matter depends on whether native VDAC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VDAC1 is annotated at the cell surface, where native VDAC1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label VDAC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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