Human Gene VDAC3 (uc003xpc.3)
  Description: Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 1, mRNA.
RefSeq Summary (NM_005662): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:42,249,279-42,263,455 Size: 14,177 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr8:42,251,730-42,262,980 Size: 11,251 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:42,249,279-42,263,455)mRNA (may differ from genome)Protein (283 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VDAC3_HUMAN
DESCRIPTION: RecName: Full=Voltage-dependent anion-selective channel protein 3; Short=VDAC-3; Short=hVDAC3; AltName: Full=Outer mitochondrial membrane protein porin 3;
FUNCTION: Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity).
SUBCELLULAR LOCATION: Mitochondrion outer membrane.
TISSUE SPECIFICITY: Widely expressed. Highest in testis.
DOMAIN: Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands (By similarity).
SIMILARITY: Belongs to the eukaryotic mitochondrial porin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): VDAC3
CDC HuGE Published Literature: VDAC3

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 115.79 RPKM in Muscle - Skeletal
Total median expression: 2601.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.30210-0.440 Picture PostScript Text
3' UTR -120.90475-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001925 - Porin_Euk

Pfam Domains:
PF01459 - Eukaryotic porin

ModBase Predicted Comparative 3D Structure on Q9Y277
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
 Protein Sequence   Protein Sequence
 Alignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0008308 voltage-gated anion channel activity
GO:0015288 porin activity

Biological Process:
GO:0001662 behavioral fear response
GO:0006811 ion transport
GO:0007268 chemical synaptic transmission
GO:0007270 neuron-neuron synaptic transmission
GO:0007612 learning
GO:0015698 inorganic anion transport
GO:0015853 adenine transport
GO:0055085 transmembrane transport
GO:0098656 anion transmembrane transport
GO:1902017 regulation of cilium assembly

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0046930 pore complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF038962 - Homo sapiens voltage dependent anion channel protein mRNA, complete cds.
AK307224 - Homo sapiens cDNA, FLJ97172.
AK308760 - Homo sapiens cDNA, FLJ98801.
AK058201 - Homo sapiens cDNA FLJ25472 fis, clone TST09616, highly similar to VOLTAGE-DEPENDENT ANION-SELECTIVE CHANNEL PROTEIN 3.
BC056870 - Homo sapiens voltage-dependent anion channel 3, mRNA (cDNA clone MGC:64870 IMAGE:6163890), complete cds.
BC002456 - Homo sapiens cDNA clone IMAGE:3343379, **** WARNING: chimeric clone ****.
HQ448061 - Synthetic construct Homo sapiens clone IMAGE:100071440; CCSB012000_01 voltage-dependent anion channel 3 (VDAC3) gene, encodes complete protein.
KJ892372 - Synthetic construct Homo sapiens clone ccsbBroadEn_01766 VDAC3 gene, encodes complete protein.
AM393322 - Synthetic construct Homo sapiens clone IMAGE:6163890.1E2 for hypothetical protein (VDAC3 gene).
AM393569 - Synthetic construct Homo sapiens clone IMAGE:6163890.1E1 for hypothetical protein (VDAC3 gene).
CU691170 - Synthetic construct Homo sapiens gateway clone IMAGE:100021700 5' read VDAC3 mRNA.
U90943 - Homo sapiens voltage dependent anion channel form 3 mRNA, complete cds.
AK095798 - Homo sapiens cDNA FLJ38479 fis, clone FEBRA2022787.
LF331097 - JP 2014500723-A/138600: Polycomb-Associated Non-Coding RNAs.
JD477623 - Sequence 458647 from Patent EP1572962.
JD494894 - Sequence 475918 from Patent EP1572962.
JD537725 - Sequence 518749 from Patent EP1572962.
MA566674 - JP 2018138019-A/138600: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

BioCyc Knowledge Library
PWY3DJ-471 - creatine-phosphate energy transfer

Reactome (by CSHL, EBI, and GO)

Protein Q9Y277 (Reactome details) participates in the following event(s):

R-HSA-8949145 VDAC1,2,3 translocate calcium from the cytosol to the mitochondrial intermembrane space
R-HSA-5696872 USP30 deubiquitinates Ub-MOM proteins
R-HSA-8949215 Mitochondrial calcium ion transport
R-HSA-5689880 Ub-specific processing proteases
R-HSA-382551 Transport of small molecules
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NM_005662, NP_005653, Q9UIS0, Q9Y277, VDAC3_HUMAN
UCSC ID: uc003xpc.3
RefSeq Accession: NM_005662
Protein: Q9Y277 (aka VDAC3_HUMAN or POR3_HUMAN)
CCDS: CCDS6131.1, CCDS47850.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005662.6
exon count: 10CDS single in 3' UTR: no RNA size: 1554
ORF size: 852CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1676.00frame shift in genome: no % Coverage: 98.91
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.