VDAC1 voltage dependent anion channel 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VDAC1provided by HGNC
Official Full Name: voltage dependent anion channel 1provided by HGNC
Primary source: HGNC:HGNC:12669
See related: Ensembl:ENSG00000213585 MIM:604492; AllianceGenome:HGNC:12669
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PORIN; VDAC-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]
Expression: Ubiquitous expression in heart (RPKM 107.1), duodenum (RPKM 94.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (133971871..134114540, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (134495517..134638169, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (133307562..133450231, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial Calcium Uniporter (MCU) that Modulates Mitochondrial Calcium Uptake and Facilitates Endometrial Cancer Progression through Interaction with VDAC1.
Title: Mitochondrial Calcium Uniporter (MCU) that Modulates Mitochondrial Calcium Uptake and Facilitates Endometrial Cancer Progression through Interaction with VDAC1.
The inhibition of VDAC1 oligomerization promotes pigmentation through the CaMK-CRTCs/CREB-MITF pathway.
Title: The inhibition of VDAC1 oligomerization promotes pigmentation through the CaMK-CRTCs/CREB-MITF pathway.
Identification and validation of voltage-dependent anion channel 1-related genes and immune cell infiltration in diabetic nephropathy.
Title: Identification and validation of voltage-dependent anion channel 1-related genes and immune cell infiltration in diabetic nephropathy.
HNF4A-BAP31-VDAC1 axis synchronously regulates cell proliferation and ferroptosis in gastric cancer.
Title: HNF4A-BAP31-VDAC1 axis synchronously regulates cell proliferation and ferroptosis in gastric cancer.
HSP90 C-terminal domain inhibition promotes VDAC1 oligomerization via decreasing K274 mono-ubiquitination in Hepatocellular Carcinoma.
Title: HSP90 C-terminal domain inhibition promotes VDAC1 oligomerization via decreasing K274 mono-ubiquitination in Hepatocellular Carcinoma.
Evaluation of copper-induced biomolecular changes in different porin mutants of Escherichia coli W3110 by infrared spectroscopy.
Title: Evaluation of copper-induced biomolecular changes in different porin mutants of Escherichia coli W3110 by infrared spectroscopy.
Hypoxia-induced GPCPD1 depalmitoylation triggers mitophagy via regulating PRKN-mediated ubiquitination of VDAC1.
Title: Hypoxia-induced GPCPD1 depalmitoylation triggers mitophagy via regulating PRKN-mediated ubiquitination of VDAC1.
Increase in primary cilia number and length upon VDAC1 depletion contributes to attenuated proliferation of cancer cells.
Title: Increase in primary cilia number and length upon VDAC1 depletion contributes to attenuated proliferation of cancer cells.
Evolution of Mycobacterium abscessus in the human lung: Cumulative mutations and genomic rearrangement of porin genes in patient isolates.
Title: Evolution of Mycobacterium abscessus in the human lung: Cumulative mutations and genomic rearrangement of porin genes in patient isolates.
Prognosis-related VDAC1 regulates the proliferation and apoptosis of osteosarcoma cells via the MAPK signaling pathway.
Title: Prognosis-related VDAC1 regulates the proliferation and apoptosis of osteosarcoma cells via the MAPK signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (155)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with voltage-dependent anion channel 1 (VDAC1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with voltage-dependent anion channel 1 (VDAC1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Nef	nef	HIV-1 Nef downregulates the expression of voltage-dependent anion channel 1 (VDAC1) protein in Nef-transfected SupT1 cells	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of voltage-dependent anion channel 1 (VDAC1) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
	vpr	The G5 domain of gelsolin inhibits HIV-Vpr-induced T-cell apoptosis by blocking the interaction between Vpr and VDAC	PubMed
	vpr	HIV-1 Vpr interacts with a molecular complex of voltage-dependent anion channel (VDAC) and adenine nucleotide translocator (ANT) by directly binding to ANT resulting in the induction of mitochondrial membrane permeabilization	PubMed
retropepsin	gag-pol	HIV-1 PR cleaves VDAC in a dose-dependent manner in HEK293 cells	PubMed
	gag-pol	HIV-1 PR interacts with mitochondrial proteins VDAC, cytochrome c, TOM22, and Bax in HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-7287 (e-PCR)
- UniSTS:75528

RH38718 (e-PCR)
- UniSTS:87598

D17S2116 (e-PCR)
- UniSTS:28264

D5S2665 (e-PCR)
- UniSTS:16818

D5S1995 (e-PCR), detects polymorphism
- UniSTS:38067

VDAC1 (e-PCR)
- UniSTS:279253

DXS1261 (e-PCR)
- UniSTS:99547

D8S1135 (e-PCR)
- UniSTS:72689

MARC_23885-23886:1031761371:1 (e-PCR)
- UniSTS:268790

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ceramide binding	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables oxysterol binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables porin activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic anion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated monoatomic anion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated monoatomic anion channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables voltage-gated monoatomic anion channel activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in calcium import into the mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of calcium import into the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neuron-neuron synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type 2 mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyruvate metabolic process	TAS Traceable Author Statement more info
involved_in regulation of autophagy of mitochondrion	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
part_of mitochondrial permeability transition pore complex	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of pore complex	TAS Traceable Author Statement more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: non-selective voltage-gated ion channel VDAC1

Names: outer mitochondrial membrane protein porin 1; plasmalemmal porin; porin 31HL; porin 31HM; sperm binding protein 1a

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027817.3 RefSeqGene

Range

114565..147669

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001401008.1 → NP_001387937.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401009.1 → NP_001387938.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401010.1 → NP_001387939.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401011.1 → NP_001387940.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401016.1 → NP_001387945.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401017.1 → NP_001387946.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401018.1 → NP_001387947.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401020.1 → NP_001387949.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1

Related

ENSP00000378484.3, ENST00000395044.7
NM_001401021.1 → NP_001387950.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1

Related

ENSP00000378487.2, ENST00000395047.6
NM_001401022.1 → NP_001387951.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401023.1 → NP_001387952.1 non-selective voltage-gated ion channel VDAC1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008608, AC025177

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1
NM_001401024.1 → NP_001387953.1 non-selective voltage-gated ion channel VDAC1 isoform 2

Status: REVIEWED

Source sequence(s)

AC008608, AC025177
NM_001401025.1 → NP_001387954.1 non-selective voltage-gated ion channel VDAC1 isoform 3

Status: REVIEWED

Source sequence(s)

AC008608, AC025177
NM_001401026.1 → NP_001387955.1 non-selective voltage-gated ion channel VDAC1 isoform 4

Status: REVIEWED

Source sequence(s)

AC008608, AC025177
NM_001401027.1 → NP_001387956.1 non-selective voltage-gated ion channel VDAC1 isoform 5

Status: REVIEWED

Source sequence(s)

AC008608
NM_001401028.1 → NP_001387957.1 non-selective voltage-gated ion channel VDAC1 isoform 6

Status: REVIEWED

Source sequence(s)

AC008608, AC025177
NM_001401029.1 → NP_001387958.1 non-selective voltage-gated ion channel VDAC1 isoform 7

Status: REVIEWED

Source sequence(s)

AC008608, AC025177
NM_001401031.1 → NP_001387960.1 non-selective voltage-gated ion channel VDAC1 isoform 7

Status: REVIEWED

Source sequence(s)

AC008608, AC025177
NM_001401032.1 → NP_001387961.1 non-selective voltage-gated ion channel VDAC1 isoform 7

Status: REVIEWED

Source sequence(s)

AC008608, AC025177
NM_003374.3 → NP_003365.1 non-selective voltage-gated ion channel VDAC1 isoform 1

See identical proteins and their annotated locations for NP_003365.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC008608, AC025177, AK095989, BC008482, L06132

Consensus CDS

CCDS4168.1

UniProtKB/Swiss-Prot

B3KVK4, D3DQ93, P21796, Q5FVE7, Q9UIQ5, Q9UPL0

UniProtKB/TrEMBL

A0A1L1UHR1, B3KTS5

Related

ENSP00000265333.3, ENST00000265333.8

Conserved Domains (1) summary

cd07306
Location:4 → 282

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane