VDAC1 (voltage dependent anion channel 1)

Gene

• Entrez ID: 7416
• Gene name: Voltage dependent anion channel 1
• Gene symbol: VDAC1
• Synonyms: PORIN, VDAC-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 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036008	hsa-miR-1301-3p	CLASH	23622248
MIRT036168	hsa-miR-320c	CLASH	23622248
MIRT037371	hsa-miR-877-5p	CLASH	23622248
MIRT037391	hsa-miR-744-5p	CLASH	23622248
MIRT039673	hsa-miR-615-3p	CLASH	23622248
MIRT044747	hsa-miR-320a	CLASH	23622248
MIRT044747	hsa-miR-320a	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	27761954
MIRT044747	hsa-miR-320a	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	27304056
MIRT044747	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	27229534
MIRT044747	hsa-miR-320a	qRT-PCR, Western blot	26472185
MIRT045947	hsa-miR-125b-5p	CLASH	23622248
MIRT047728	hsa-miR-10a-5p	CLASH	23622248
MIRT048149	hsa-miR-197-3p	CLASH	23622248
MIRT048331	hsa-miR-106a-5p	CLASH	23622248
MIRT053765	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	22952654
MIRT439306	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439307	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726137	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726138	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT726139	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726140	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT731276	hsa-miR-7-5p	Luciferase reporter assay	26801612

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0005515	Function	Protein binding	IPI	9843949, 16201016, 19130895, 21370995, 22304920, 23055042, 24947355, 25296756, 25556234, 26387735, 29128334, 30021884, 30352685, 31046837, 31206022
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IDA	30188326, 31206022
GO:0005741	Component	Mitochondrial outer membrane	IBA	21873635
GO:0005741	Component	Mitochondrial outer membrane	IDA	17008324, 25244949
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005757	Component	Mitochondrial permeability transition pore complex	IDA	26387735
GO:0005886	Component	Plasma membrane	IDA	25296756
GO:0006090	Process	Pyruvate metabolic process	TAS
GO:0006820	Process	Anion transport	IDA	8420959
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IEA
GO:0006915	Process	Apoptotic process	IDA	25296756
GO:0006915	Process	Apoptotic process	TAS	10365962
GO:0007270	Process	Neuron-neuron synaptic transmission	IEA
GO:0007612	Process	Learning	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008308	Function	Voltage-gated anion channel activity	IBA	21873635
GO:0008308	Function	Voltage-gated anion channel activity	IDA	8420959
GO:0008308	Function	Voltage-gated anion channel activity	ISS
GO:0008308	Function	Voltage-gated anion channel activity	TAS
GO:0015288	Function	Porin activity	IEA
GO:0015485	Function	Cholesterol binding	IDA	31015432
GO:0015698	Process	Inorganic anion transport	IEA
GO:0016020	Component	Membrane	IDA	27641616
GO:0016020	Component	Membrane	ISS
GO:0016032	Process	Viral process	IEA
GO:0016236	Process	Macroautophagy	TAS
GO:0019901	Function	Protein kinase binding	IPI	21370995
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0031210	Function	Phosphatidylcholine binding	IDA	31015432
GO:0031966	Component	Mitochondrial membrane	IDA	31015432
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0042802	Function	Identical protein binding	IPI	18832158
GO:0043066	Process	Negative regulation of apoptotic process	IMP	32047033
GO:0044325	Function	Ion channel binding	IPI	25296756
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0046930	Component	Pore complex	TAS	9843949
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0097001	Function	Ceramide binding	IDA	31015432
GO:0098656	Process	Anion transmembrane transport	IEA
GO:0110099	Process	Negative regulation of calcium import into the mitochondrion	IMP	32047033
GO:1901526	Process	Positive regulation of mitophagy	IMP	32047033
GO:1903146	Process	Regulation of autophagy of mitochondrion	NAS	20098416
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 604492
• HGNC: 12669
• e!Ensembl: ENSG00000213585

Protein

• UniProt ID: P21796
• Protein name: Voltage-dependent anion-selective channel protein 1 (VDAC-1) (hVDAC1) (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM)
• Protein 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). Binds various signaling molecules, including the sphingolipid ceramide, the phospholipid phosphatidylcholine, and the sterol cholesterol (PubMed:31015432). In depolarized mitochondria, acts downstream of PRKN and PINK1 to promote mitophagy or prevent apoptosis; polyubiquitination by PRKN promotes mitophagy, while monoubiquitination by PRKN decreases mitochondrial calcium influx which ultimately inhibits apoptosis (PubMed:32047033). 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). May mediate ATP export from cells (PubMed:30061676).
• PDB: 2JK4, 2K4T, 5JDP, 5XDN, 5XDO, 6G6U, 6G73, 6TIQ, 6TIR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01459	Porin_3	3 → 276	Eukaryotic porin	Family

• Sequence:

  MAVPPTYADLGKSARDVFTKGYGFGLIKLDLKTKSENGLEFTSSGSANTETTKVTGSLET
  KYRWTEYGLTFTEKWNTDNTLGTEITVEDQLARGLKLTFDSSFSPNTGKKNAKIKTGYKR
  EHINLGCDMDFDIAGPSIRGALVLGYEGWLAGYQMNFETAKSRVTQSNFAVGYKTDEFQL
  HTNVNDGTEFGGSIYQKVNKKLETAVNLAWTAGNSNTRFGIAAKYQIDPDACFSAKVNNS
  SLIGLGYTQTLKPGIKLTLSALLDGKNVNAGGHKLGLGLEFQA

• Sequence length: 283

Pathways

KEGG:

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

Reactome:

Pink/Parkin Mediated Mitophagy
Ub-specific processing proteases
Pyruvate metabolism

Associated diseases

Disease name	Disease term	References
	Diabetic Nephropathy	19634143
	Epilepsy	17893921
	Epilepsy, Cryptogenic	17893921
	Awakening Epilepsy	17893921
	Nodular glomerulosclerosis	19634143
	Luft Disease	8726225
	Megaconial Myopathies	8726225
	Mitochondrial Myopathies	8726225
	Myocardial Infarction	25488258
	Pleoconial Myopathies	8726225
	Psychomotor Disorders	8726225
	Developmental Psychomotor Disorders	8726225