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

    Gene ID: 7419, updated on 5-May-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See VDAC3 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42391880..42405937)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42662194..42676251)
    105.20220307 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 H3K27ac hESC enhancers GRCh37_chr8:42248902-42249402 and GRCh37_chr8:42249403-42249903 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42258699-42258918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27311 Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene solute carrier family 20 member 2 Neighboring gene Sharpr-MPRA regulatory region 15103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42331955-42332466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42332467-42332978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333977-42334500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333451-42333976 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:42350219-42351086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42359656-42360855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19157 Neighboring gene Sharpr-MPRA regulatory region 9023 Neighboring gene NANOG hESC enhancer GRCh37_chr8:42409514-42410035 Neighboring gene small integral membrane protein 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27312 Neighboring gene Sharpr-MPRA regulatory region 2659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42516917-42517417 Neighboring gene uncharacterized LOC124900250 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 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 mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001135694.3NP_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:5283
      Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
    2. NM_001413552.1NP_001400481.1  voltage-dependent anion-selective channel protein 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC107885
      UniProtKB/Swiss-Prot
      Q9UIS0, Q9Y277
    3. NM_001413553.1NP_001400482.1  voltage-dependent anion-selective channel protein 3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC107885
    4. NM_001413554.1NP_001400483.1  voltage-dependent anion-selective channel protein 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC107885
    5. NM_001413555.1NP_001400484.1  voltage-dependent anion-selective channel protein 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC107885
    6. NM_001413556.1NP_001400485.1  voltage-dependent anion-selective channel protein 3 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC107885
    7. NM_001413557.1NP_001400486.1  voltage-dependent anion-selective channel protein 3 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC107885
    8. NM_001413558.1NP_001400487.1  voltage-dependent anion-selective channel protein 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC107885
      UniProtKB/Swiss-Prot
      Q9UIS0, Q9Y277
    9. NM_001413559.1NP_001400488.1  voltage-dependent anion-selective channel protein 3 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC107885
    10. NM_001413560.1NP_001400489.1  voltage-dependent anion-selective channel protein 3 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC107885
    11. NM_001413561.1NP_001400490.1  voltage-dependent anion-selective channel protein 3 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC107885
    12. 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
      Q9UIS0, Q9Y277
      Related
      ENSP00000022615.4, ENST00000022615.9
      Conserved Domains (1) summary
      cd07306
      Location:5282
      Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane

    RNA

    1. NR_182160.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC107885
    2. NR_182161.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC107885
    3. NR_182162.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC107885
    4. NR_182163.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC107885

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      42391880..42405937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      42662194..42676251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)