VDAC3 voltage dependent anion channel 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VDAC3provided by HGNC
Official Full Name: voltage dependent anion channel 3provided by HGNC
Primary source: HGNC:HGNC:12674
See related: Ensembl:ENSG00000078668 MIM:610029; AllianceGenome:HGNC:12674
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: VDAC-3; HD-VDAC3
Summary: This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in heart (RPKM 97.4), testis (RPKM 53.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.21

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (42391880..42405937)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (42662194..42676251)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (42249398..42263455)

Chromosome 8 - NC_000008.11 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
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?

Specific Post-Translational Modifications of VDAC3 in ALS-SOD1 Model Cells Identified by High-Resolution Mass Spectrometry.
Title: Specific Post-Translational Modifications of VDAC3 in ALS-SOD1 Model Cells Identified by High-Resolution Mass Spectrometry.
A lower affinity to cytosolic proteins reveals VDAC3 isoform-specific role in mitochondrial biology.
Title: A lower affinity to cytosolic proteins reveals VDAC3 isoform-specific role in mitochondrial biology.
A High Resolution Mass Spectrometry Study Reveals the Potential of Disulfide Formation in Human Mitochondrial Voltage-Dependent Anion Selective Channel Isoforms (hVDACs).
Title: A High Resolution Mass Spectrometry Study Reveals the Potential of Disulfide Formation in Human Mitochondrial Voltage-Dependent Anion Selective Channel Isoforms (hVDACs).
Expression of voltage-dependent anion channels in endometrial cancer and its potential prognostic significance.
Title: Expression of voltage-dependent anion channels in endometrial cancer and its potential prognostic significance.
VDAC3 role in the melanoma drug resistance to erastin.Erastin-induced resistance mediated by FOXM1-Nedd4-VDAC2/VDAC3 negative feedback loop in melanoma.Nedd4 ubiquitinates and degrades VDAC3.
Title: Nedd4 ubiquitylates VDAC2/3 to suppress erastin-induced ferroptosis in melanoma.
Data suggest that the hub genes NADH:ubiquinone oxidoreductase subunit B5 (NDUFB5), translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), and voltage-dependent anion channel 3 (VDAC3) might serve as potential biomarkers for diagnosis and/or therapeutic targets for precise treatment of septic cardiomyopathy (SC) .
Title: Potentially Critical Roles of NDUFB5, TIMMDC1, and VDAC3 in the Progression of Septic Cardiomyopathy Through Integrated Bioinformatics Analysis.
The AG genotype of rs16891278 showed a significantly lower sperm concentration compared with the AA genotype (P = 0.044). Findings suggest that VDAC3 genetic variants may be associated with human sperm count.
Title: Association of the VDAC3 gene polymorphism with sperm count in Han-Chinese population with idiopathic male infertility.
This cohort study showed that the VDAC3 gene was down regulation between patients with idiopathic Parkinson disease and controls
Title: Analysis of blood-based gene expression in idiopathic Parkinson disease.
The works available on VDAC cysteines support the notion that VDAC1, VDAC2, and VDAC3 proteins are paralogs with a similar pore-function and slightly different, but important, ancillary biological functions. (Review)
Title: Role of cysteines in mammalian VDAC isoforms' function.
VDAC3 is able to modulate its pore size and current by exploiting the mobility of the N-terminal and forming, upon external stimuli, disulfide bridges with cysteine residues located on the barrel and exposed to the inter-membrane space.
Title: A computational study of ion current modulation in hVDAC3 induced by disulfide bonds.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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 transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with voltage-dependent anion channel 3 (VDAC3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Vpr	vpr	The G5 domain of gelsolin inhibits HIV-Vpr-induced T-cell apoptosis by blocking the interaction between Vpr and VDAC	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

RH40477 (e-PCR)
- UniSTS:86821

RH79876 (e-PCR)
- UniSTS:85816

VDAC3 (e-PCR)
- UniSTS:506223

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables porin activity	IEA Inferred from Electronic Annotation more info
enables protein 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	TAS Traceable Author Statement more info	PubMed
enables voltage-gated monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adenine transport	TAS Traceable Author Statement more info	PubMed
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in neuron-neuron synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in sperm mitochondrial sheath assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	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	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
part_of pore complex	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: voltage-dependent anion-selective channel protein 3

Names: outer mitochondrial membrane protein porin 3

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.

mRNA and Protein(s)

NM_001135694.3 → NP_001129166.1 voltage-dependent anion-selective channel protein 3 isoform 2

See identical proteins and their annotated locations for NP_001129166.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional, in-frame 3 nt coding exon compared to variant 1. This results in an isoform (2) that is 1 aa longer than isoform 1. The short exon is supported by PMID:10833333, and orthologs in mouse, rat and bovine.

Source sequence(s)

AC107885

Consensus CDS

CCDS47850.1

UniProtKB/Swiss-Prot

Q9Y277

Related

ENSP00000428845.1, ENST00000521158.5

Conserved Domains (1) summary

cd07306
Location:5 → 283

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_001413552.1 → NP_001400481.1 voltage-dependent anion-selective channel protein 3 isoform 1

Status: REVIEWED

Source sequence(s)

AC107885

UniProtKB/Swiss-Prot

Q9UIS0, Q9Y277
NM_001413553.1 → NP_001400482.1 voltage-dependent anion-selective channel protein 3 isoform 3

Status: REVIEWED

Source sequence(s)

AC107885
NM_001413554.1 → NP_001400483.1 voltage-dependent anion-selective channel protein 3 isoform 4

Status: REVIEWED

Source sequence(s)

AC107885
NM_001413555.1 → NP_001400484.1 voltage-dependent anion-selective channel protein 3 isoform 5

Status: REVIEWED

Source sequence(s)

AC107885
NM_001413556.1 → NP_001400485.1 voltage-dependent anion-selective channel protein 3 isoform 6

Status: REVIEWED

Source sequence(s)

AC107885
NM_001413557.1 → NP_001400486.1 voltage-dependent anion-selective channel protein 3 isoform 7

Status: REVIEWED

Source sequence(s)

AC107885
NM_001413558.1 → NP_001400487.1 voltage-dependent anion-selective channel protein 3 isoform 1

Status: REVIEWED

Source sequence(s)

AC107885

UniProtKB/Swiss-Prot

Q9UIS0, Q9Y277
NM_001413559.1 → NP_001400488.1 voltage-dependent anion-selective channel protein 3 isoform 8

Status: REVIEWED

Source sequence(s)

AC107885
NM_001413560.1 → NP_001400489.1 voltage-dependent anion-selective channel protein 3 isoform 9

Status: REVIEWED

Source sequence(s)

AC107885
NM_001413561.1 → NP_001400490.1 voltage-dependent anion-selective channel protein 3 isoform 10

Status: REVIEWED

Source sequence(s)

AC107885
NM_005662.7 → NP_005653.3 voltage-dependent anion-selective channel protein 3 isoform 1

See identical proteins and their annotated locations for NP_005653.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.

Source sequence(s)

BC056870, BQ001504, DA930673

Consensus CDS

CCDS6131.1

UniProtKB/Swiss-Prot

Q9UIS0, Q9Y277

Related

ENSP00000022615.4, ENST00000022615.9

Conserved Domains (1) summary

cd07306
Location:5 → 282

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