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

Gene ID: 7419, updated on 5-Apr-2020

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
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

Genomic context

See VDAC3 in Genome Data Viewer
Location:
8p11.21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (42391624..42405937)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42249279..42263455)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L5 pseudogene 23 Neighboring gene DNA polymerase beta Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene solute carrier family 20 member 2 Neighboring gene small integral membrane protein 19 Neighboring gene uncharacterized LOC105379396 Neighboring gene cholinergic receptor nicotinic beta 3 subunit

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
porin activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated anion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated anion channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
adenine transport TAS
Traceable Author Statement
more info
PubMed 
anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
neuron-neuron synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
regulation of cilium assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 
pore complex IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
voltage-dependent anion-selective channel protein 3
Names
outer mitochondrial membrane protein porin 3

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001135694.2NP_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)
    AK308760, BC056870, BQ001504, DA930673
    Consensus CDS
    CCDS47850.1
    UniProtKB/Swiss-Prot
    Q9Y277
    Related
    ENSP00000428845.1, ENST00000521158.5
    Conserved Domains (1) summary
    cd07306
    Location:5283
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
  2. NM_005662.7NP_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
    Q9Y277
    Related
    ENSP00000022615.4, ENST00000022615.9
    Conserved Domains (1) summary
    cd07306
    Location:5282
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    42391624..42405937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716394.1XP_006716457.1  voltage-dependent anion-selective channel protein 3 isoform X1

    Conserved Domains (1) summary
    cd07306
    Location:3250
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
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