LOCUS       NM_005662               1418 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens voltage dependent anion channel 3 (VDAC3), transcript
            variant 1, mRNA.
ACCESSION   NM_005662
VERSION     NM_005662.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1418)
  AUTHORS   Pittala,M.G.G., Reina,S., Nibali,S.C., Cucina,A., Cubisino,S.A.M.,
            Cunsolo,V., Amodeo,G.F., Foti,S., De Pinto,V., Saletti,R. and
            Messina,A.
  TITLE     Specific Post-Translational Modifications of VDAC3 in ALS-SOD1
            Model Cells Identified by High-Resolution Mass Spectrometry
  JOURNAL   Int J Mol Sci 23 (24), 15853 (2022)
   PUBMED   36555496
  REMARK    GeneRIF: Specific Post-Translational Modifications of VDAC3 in
            ALS-SOD1 Model Cells Identified by High-Resolution Mass
            Spectrometry.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1418)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 1418)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1418)
  AUTHORS   Jozwiak,P., Ciesielski,P., Forma,E., Kozal,K.,
            Wojcik-Krowiranda,K., Cwonda,L., Bienkiewicz,A., Brys,M. and
            Krzeslak,A.
  TITLE     Expression of voltage-dependent anion channels in endometrial
            cancer and its potential prognostic significance
  JOURNAL   Tumour Biol 42 (8), 1010428320951057 (2020)
   PUBMED   32829673
  REMARK    GeneRIF: Expression of voltage-dependent anion channels in
            endometrial cancer and its potential prognostic significance.
REFERENCE   5  (bases 1 to 1418)
  AUTHORS   Pittala,M.G.G., Saletti,R., Reina,S., Cunsolo,V., De Pinto,V. and
            Foti,S.
  TITLE     A High Resolution Mass Spectrometry Study Reveals the Potential of
            Disulfide Formation in Human Mitochondrial Voltage-Dependent Anion
            Selective Channel Isoforms (hVDACs)
  JOURNAL   Int J Mol Sci 21 (4), 1468 (2020)
   PUBMED   32098132
  REMARK    GeneRIF: A High Resolution Mass Spectrometry Study Reveals the
            Potential of Disulfide Formation in Human Mitochondrial
            Voltage-Dependent Anion Selective Channel Isoforms (hVDACs).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1418)
  AUTHORS   Decker,W.K., Bowles,K.R., Schatte,E.C., Towbin,J.A. and
            Craigen,W.J.
  TITLE     Revised fine mapping of the human voltage-dependent anion channel
            loci by radiation hybrid analysis
  JOURNAL   Mamm Genome 10 (10), 1041-1042 (1999)
   PUBMED   10501981
REFERENCE   7  (bases 1 to 1418)
  AUTHORS   Sampson,M.J., Ross,L., Decker,W.K. and Craigen,W.J.
  TITLE     A novel isoform of the mitochondrial outer membrane protein VDAC3
            via alternative splicing of a 3-base exon. Functional
            characteristics and subcellular localization
  JOURNAL   J Biol Chem 273 (46), 30482-30486 (1998)
   PUBMED   9804816
REFERENCE   8  (bases 1 to 1418)
  AUTHORS   Mao,M., Fu,G., Wu,J.S., Zhang,Q.H., Zhou,J., Kan,L.X., Huang,Q.H.,
            He,K.L., Gu,B.W., Han,Z.G., Shen,Y., Gu,J., Yu,Y.P., Xu,S.H.,
            Wang,Y.X., Chen,S.J. and Chen,Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
REFERENCE   9  (bases 1 to 1418)
  AUTHORS   Rahmani,Z., Maunoury,C. and Siddiqui,A.
  TITLE     Isolation of a novel human voltage-dependent anion channel gene
  JOURNAL   Eur J Hum Genet 6 (4), 337-340 (1998)
   PUBMED   9781040
REFERENCE   10 (bases 1 to 1418)
  AUTHORS   Sampson,M.J., Lovell,R.S. and Craigen,W.J.
  TITLE     The murine voltage-dependent anion channel gene family. Conserved
            structure and function
  JOURNAL   J Biol Chem 272 (30), 18966-18973 (1997)
   PUBMED   9228078
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA930673.1, BC056870.1 and
            BQ001504.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005662.6.
            
            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].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.105874.1,
                                           SRR3476690.998046.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000022615.9/ ENSP00000022615.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DA930673.1         120-127
            9-1378              BC056870.1         13-1382
            1379-1418           BQ001504.1         18-57               c
FEATURES             Location/Qualifiers
     source          1..1418
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..1418
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /note="voltage dependent anion channel 3"
                     /db_xref="GeneID:7419"
                     /db_xref="HGNC:HGNC:12674"
                     /db_xref="MIM:610029"
     exon            1..49
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            50..89
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            90..158
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..943
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     voltage-dependent anion-selective channel protein 3; outer
                     mitochondrial membrane protein porin 3; non-selective
                     voltage-gated ion channel VDAC3"
                     /codon_start=1
                     /product="non-selective voltage-gated ion channel VDAC3
                     isoform 1"
                     /protein_id="NP_005653.3"
                     /db_xref="CCDS:CCDS6131.1"
                     /db_xref="GeneID:7419"
                     /db_xref="HGNC:HGNC:12674"
                     /db_xref="MIM:610029"
                     /translation="MCNTPTYCDLGKAAKDVFNKGYGFGMVKIDLKTKSCSGVEFSTS
                     GHAYTDTGKASGNLETKYKVCNYGLTFTQKWNTDNTLGTEISWENKLAEGLKLTLDTI
                     FVPNTGKKSGKLKASYKRDCFSVGSNVDIDFSGPTIYGWAVLAFEGWLAGYQMSFDTA
                     KSKLSQNNFALGYKAADFQLHTHVNDGTEFGGSIYQKVNEKIETSINLAWTAGSNNTR
                     FGIAAKYMLDCRTSLSAKVNNASLIGLGYTQTLRPGVKLTLSALIDGKNFSAGGHKVG
                     LGFELEA"
     exon            159..208
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            209..361
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            362..414
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            415..642
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            643..793
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            794..851
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     exon            852..1418
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1352..1357
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /note="hexamer: AATAAA"
     polyA_site      1378
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
                     /note="major polyA site"
     polyA_site      1418
                     /gene="VDAC3"
                     /gene_synonym="HD-VDAC3; VDAC-3"
ORIGIN      
        1 gaccttcagc gttgccctgg cggagcagag acaggccctc ggggtggagg tctttggttt
       61 cataagagcc tgagagagat ttttctaaga tatgtgtaac acaccaacgt actgtgacct
      121 aggaaaggct gctaaggatg tcttcaacaa aggatatggc tttggcatgg tcaagataga
      181 cctgaaaacc aagtcttgta gtggagtgga attttctact tctggtcatg cttacactga
      241 tacagggaaa gcatcaggca acctagaaac caaatataag gtctgtaact atggacttac
      301 cttcacccag aaatggaaca cagacaatac tctagggaca gaaatctctt gggagaataa
      361 gttggctgaa gggttgaaac tgactcttga taccatattt gtaccgaaca caggaaagaa
      421 gagtgggaaa ttgaaggcct cctataaacg ggattgtttt agtgttggca gtaatgttga
      481 tatagatttt tctggaccaa ccatctatgg ctgggctgtg ttggccttcg aagggtggct
      541 tgctggctat cagatgagtt ttgacacagc caaatccaaa ctgtcacaga ataatttcgc
      601 cctgggttac aaggctgcgg acttccagct gcacacacat gtgaacgatg gcactgaatt
      661 tggaggttct atctaccaga aggtgaatga gaagattgaa acatccataa accttgcttg
      721 gacagctggg agtaacaaca cccgttttgg cattgctgct aagtacatgc tggattgtag
      781 aacttctctc tctgctaaag taaataatgc cagcctgatt ggactgggtt atactcagac
      841 ccttcgacca ggagtcaaat tgactttatc agctttaatc gatgggaaga acttcagtgc
      901 aggaggtcac aaggttggct tgggatttga actggaagct taatgtggtt tgaggaaagc
      961 atcagatttg tccctggaag tgaagagaaa tgaacccact atgttttggc cttaaaattc
     1021 ttctgtgaaa tttcaaaagt gtgaactttt tattcttcca aagaattgta atcctcccca
     1081 cactgaagtc taggggttgc gaatccctcc tgagggagat gcttgaaggc atgcctggaa
     1141 gttgtcatgt ttgtgccacg tttcagttca gttctgaagt gttattaaat gtgttcctca
     1201 gcgacagtgt agcgtcatgt tagaggagac gatctgaccc accagtttgt acatcacgtc
     1261 ctgcatgtcc cacaccattt tttcatgacc ttgtaatata ctggtctctg tgctatagtg
     1321 gaatctttgg ttttgcatca tagtaaaata aaataaaccc atcacatttg gaacataact
     1381 gctcatgtga cttgctggtg atggttttct taccttga
//
