LOCUS       NM_003374               1839 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens voltage dependent anion channel 1 (VDAC1), transcript
            variant 1, mRNA.
ACCESSION   NM_003374
VERSION     NM_003374.3
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 1839)
  AUTHORS   Lv,J., Zhang,X., An,X., Cao,Y., Meng,D., Zou,K., Gao,R. and
            Zhang,R.
  TITLE     The inhibition of VDAC1 oligomerization promotes pigmentation
            through the CaMK-CRTCs/CREB-MITF pathway
  JOURNAL   Exp Cell Res 434 (2), 113874 (2024)
   PUBMED   38070860
  REMARK    GeneRIF: The inhibition of VDAC1 oligomerization promotes
            pigmentation through the CaMK-CRTCs/CREB-MITF pathway.
REFERENCE   2  (bases 1 to 1839)
  AUTHORS   Lin,J., Weng,M., Zheng,J., Nie,K., Rao,S., Zhuo,Y. and Wan,J.
  TITLE     Identification and validation of voltage-dependent anion channel
            1-related genes and immune cell infiltration in diabetic
            nephropathy
  JOURNAL   J Diabetes Investig 15 (1), 87-105 (2024)
   PUBMED   37737517
  REMARK    GeneRIF: Identification and validation of voltage-dependent anion
            channel 1-related genes and immune cell infiltration in diabetic
            nephropathy.
REFERENCE   3  (bases 1 to 1839)
  AUTHORS   Xiao,H., Ma,L., Ding,J., Wang,H., Bi,X., Tan,F. and Piao,W.
  TITLE     Mitochondrial Calcium Uniporter (MCU) that Modulates Mitochondrial
            Calcium Uptake and Facilitates Endometrial Cancer Progression
            through Interaction with VDAC1
  JOURNAL   Curr Cancer Drug Targets 24 (3), 354-367 (2024)
   PUBMED   37702230
  REMARK    GeneRIF: Mitochondrial Calcium Uniporter (MCU) that Modulates
            Mitochondrial Calcium Uptake and Facilitates Endometrial Cancer
            Progression through Interaction with VDAC1.
REFERENCE   4  (bases 1 to 1839)
  AUTHORS   Jahn,H., Bartos,L., Dearden,G.I., Dittman,J.S., Holthuis,J.C.M.,
            Vacha,R. and Menon,A.K.
  TITLE     Phospholipids are imported into mitochondria by VDAC, a dimeric
            beta barrel scramblase
  JOURNAL   Nat Commun 14 (1), 8115 (2023)
   PUBMED   38065946
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1839)
  AUTHORS   Zhang,J., Liu,L., Li,Y., Huang,Y., Xiao,S., Deng,Z., Zheng,Z.,
            Li,J., Liang,M., Xie,G., Chen,X., Deng,Y., Tan,W., Su,H., Wu,G.,
            Cai,C., Chen,X. and Zou,F.
  TITLE     HSP90 C-terminal domain inhibition promotes VDAC1 oligomerization
            via decreasing K274 mono-ubiquitination in Hepatocellular Carcinoma
  JOURNAL   Neoplasia 44, 100935 (2023)
   PUBMED   37717471
  REMARK    GeneRIF: HSP90 C-terminal domain inhibition promotes VDAC1
            oligomerization via decreasing K274 mono-ubiquitination in
            Hepatocellular Carcinoma.
REFERENCE   6  (bases 1 to 1839)
  AUTHORS   Blachly-Dyson,E., Baldini,A., Litt,M., McCabe,E.R. and Forte,M.
  TITLE     Human genes encoding the voltage-dependent anion channel (VDAC) of
            the outer mitochondrial membrane: mapping and identification of two
            new isoforms
  JOURNAL   Genomics 20 (1), 62-67 (1994)
   PUBMED   7517385
REFERENCE   7  (bases 1 to 1839)
  AUTHORS   Blachly-Dyson,E., Zambronicz,E.B., Yu,W.H., Adams,V., McCabe,E.R.,
            Adelman,J., Colombini,M. and Forte,M.
  TITLE     Cloning and functional expression in yeast of two human isoforms of
            the outer mitochondrial membrane channel, the voltage-dependent
            anion channel
  JOURNAL   J Biol Chem 268 (3), 1835-1841 (1993)
   PUBMED   8420959
REFERENCE   8  (bases 1 to 1839)
  AUTHORS   McEnery,M.W., Snowman,A.M., Trifiletti,R.R. and Snyder,S.H.
  TITLE     Isolation of the mitochondrial benzodiazepine receptor: association
            with the voltage-dependent anion channel and the adenine nucleotide
            carrier
  JOURNAL   Proc Natl Acad Sci U S A 89 (8), 3170-3174 (1992)
   PUBMED   1373486
REFERENCE   9  (bases 1 to 1839)
  AUTHORS   Jurgens,L., Ilsemann,P., Kratzin,H.D., Hesse,D., Eckart,K.,
            Thinnes,F.P. and Hilschmann,N.
  TITLE     Studies on human porin. IV. The primary structures of 'Porin 31HM'
            purified from human skeletal muscle membranes and of 'Porin 31HL'
            derived from human B lymphocyte membranes are identical
  JOURNAL   Biol Chem Hoppe Seyler 372 (7), 455-463 (1991)
   PUBMED   1657034
REFERENCE   10 (bases 1 to 1839)
  AUTHORS   Kayser,H., Kratzin,H.D., Thinnes,F.P., Gotz,H., Schmidt,W.E.,
            Eckart,K. and Hilschmann,N.
  TITLE     [Identification of human porins. II. Characterization and primary
            structure of a 31-lDa porin from human B lymphocytes (Porin 31HL)]
  JOURNAL   Biol Chem Hoppe Seyler 370 (12), 1265-1278 (1989)
   PUBMED   2559745
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK095989.1, AC008608.7,
            L06132.1, BC008482.1 and AC025177.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003374.2.
            
            Summary: This gene encodes a voltage-dependent anion channel
            protein that is a major component of the outer mitochondrial
            membrane. The encoded protein facilitates the exchange of
            metabolites and ions across the outer mitochondrial membrane and
            may regulate mitochondrial functions. This protein also forms
            channels in the plasma membrane and may be involved in
            transmembrane electron transport. Alternate splicing results in
            multiple transcript variants. Multiple pseudogenes of this gene are
            found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq,
            Sep 2010].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            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 :: SRR1803616.150267.1, AK095989.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000265333.8/
                                                  ENSP00000265333.3
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-405               AK095989.1         159-563
            406-406             AC008608.7         18741-18741         c
            407-567             AK095989.1         565-725
            568-568             AC008608.7         8681-8681           c
            569-1452            AK095989.1         727-1610
            1453-1794           L06132.1           1465-1806
            1795-1835           BC008482.1         1738-1778
            1836-1839           AC025177.6         105605-105608       c
FEATURES             Location/Qualifiers
     source          1..1839
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..1839
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /note="voltage dependent anion channel 1"
                     /db_xref="GeneID:7416"
                     /db_xref="HGNC:HGNC:12669"
                     /db_xref="MIM:604492"
     exon            1..81
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     exon            82..154
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..939
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /note="isoform 1 is encoded by transcript variant 1; porin
                     31HL; porin 31HM; sperm binding protein 1a; plasmalemmal
                     porin; outer mitochondrial membrane protein porin 1;
                     non-selective voltage-gated ion channel VDAC1"
                     /codon_start=1
                     /product="non-selective voltage-gated ion channel VDAC1
                     isoform 1"
                     /protein_id="NP_003365.1"
                     /db_xref="CCDS:CCDS4168.1"
                     /db_xref="GeneID:7416"
                     /db_xref="HGNC:HGNC:12669"
                     /db_xref="MIM:604492"
                     /translation="MAVPPTYADLGKSARDVFTKGYGFGLIKLDLKTKSENGLEFTSS
                     GSANTETTKVTGSLETKYRWTEYGLTFTEKWNTDNTLGTEITVEDQLARGLKLTFDSS
                     FSPNTGKKNAKIKTGYKREHINLGCDMDFDIAGPSIRGALVLGYEGWLAGYQMNFETA
                     KSRVTQSNFAVGYKTDEFQLHTNVNDGTEFGGSIYQKVNKKLETAVNLAWTAGNSNTR
                     FGIAAKYQIDPDACFSAKVNNSSLIGLGYTQTLKPGIKLTLSALLDGKNVNAGGHKLG
                     LGLEFQA"
     exon            155..204
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     exon            205..357
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     exon            358..410
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     exon            411..638
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     exon            639..789
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     exon            790..847
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     exon            848..1839
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1776..1781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /note="hexamer: AATAAA"
     polyA_site      1795
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /note="major polyA site"
     regulatory      1818..1823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
                     /note="hexamer: AATAAA"
     polyA_site      1839
                     /gene="VDAC1"
                     /gene_synonym="PORIN; VDAC-1"
ORIGIN      
        1 gactcacgca ggtcctcccg cgcgcccgca acacgcccgc aggctcctgt gtctgctgcc
       61 ggggcagcgg ggcccggaag gcagaagatg gctgtgccac ccacgtatgc cgatcttggc
      121 aaatctgcca gggatgtctt caccaagggc tatggatttg gcttaataaa gcttgatttg
      181 aaaacaaaat ctgagaatgg attggaattt acaagctcag gctcagccaa cactgagacc
      241 accaaagtga cgggcagtct ggaaaccaag tacagatgga ctgagtacgg cctgacgttt
      301 acagagaaat ggaataccga caatacacta ggcaccgaga ttactgtgga agatcagctt
      361 gcacgtggac tgaagctgac cttcgattca tccttctcac ctaacactgg gaaaaaaaat
      421 gctaaaatca agacagggta caagcgggag cacattaacc tgggctgcga catggatttc
      481 gacattgctg ggccttccat ccggggtgct ctggtgctag gttacgaggg ctggctggcc
      541 ggctaccaga tgaattttga gactgcaaaa tcccgagtga cccagagcaa ctttgcagtt
      601 ggctacaaga ctgatgaatt ccagcttcac actaatgtga atgacgggac agagtttggc
      661 ggctccattt accagaaagt gaacaagaag ttggagaccg ctgtcaatct tgcctggaca
      721 gcaggaaaca gtaacacgcg cttcggaata gcagccaagt atcagattga ccctgacgcc
      781 tgcttctcgg ctaaagtgaa caactccagc ctgataggtt taggatacac tcagactcta
      841 aagccaggta ttaaactgac actgtcagct cttctggatg gcaagaacgt caatgctggt
      901 ggccacaagc ttggtctagg actggaattt caagcataaa tgaatactgt acaattgttt
      961 aattttaaac tattttgcag catagctacc ttcagaattt agtgtatctt ttaatgttgt
     1021 atgtctggga tgcaagtatt gctaaatatg ttagccctcc aggttaaagt tgattcagct
     1081 ttaagatgtt acccttccag aggtacagaa gaaacctatt tccaaaaaag gtcctttcag
     1141 tggtagactc ggggagaact tggtggcccc tttgagatgc caggtttctt ttttatctag
     1201 aaatggctgc aagtggaagc ggataatatg taggcacttt gtaaattcat attgagtaaa
     1261 tgaatgaaat tgtgatttcc tgagaatcga accttggttc cctaacccta attgatgaga
     1321 ggctcgctgc ttgatggtgt gtacaaactc acctgaatgg gactttttta gacagatctt
     1381 catgacctgt tcccacccca gttcatcatc atctctttta caccaaaagg tctgcagggt
     1441 gtggtaactg tttcttttgt gccattttgg ggtggagaag gtggatgtga tgaagccaat
     1501 aattcaggac ttattccttc ttgtgttgtg tttttttttg gcccttgcac cagagtatga
     1561 aatagcttcc aggagctcca gctataagct tggaagtgtc tgtgtgattg taatcacatg
     1621 gtgacaacac tcagaatcta aattggactt ctgttgtatt ctcaccactc aatttgtttt
     1681 ttagcagttt aatgggtaca ttttagagtc ttccattttg ttggaattag atcctcccct
     1741 tcaaatgctg taattaacaa cacttaaaaa acttgaataa aatattgaaa cctcatcctt
     1801 cttctgttgt ctttattaat aaaatataaa taaacaggg
//
