LOCUS       NM_001039362            3259 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit C2 (ATP6V1C2),
            transcript variant 1, mRNA.
ACCESSION   NM_001039362
VERSION     NM_001039362.2
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 3259)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3259)
  AUTHORS   Jobst-Schwan,T., Klambt,V., Tarsio,M., Heneghan,J.F.,
            Majmundar,A.J., Shril,S., Buerger,F., Ottlewski,I., Shmukler,B.E.,
            Topaloglu,R., Hashmi,S., Hafeez,F., Emma,F., Greco,M., Laube,G.F.,
            Fathy,H.M., Pohl,M., Gellermann,J., Milosevic,D., Baum,M.A.,
            Mane,S., Lifton,R.P., Kane,P.M., Alper,S.L. and Hildebrandt,F.
  TITLE     Whole exome sequencing identified ATP6V1C2 as a novel candidate
            gene for recessive distal renal tubular acidosis
  JOURNAL   Kidney Int 97 (3), 567-579 (2020)
   PUBMED   31959358
  REMARK    GeneRIF: Whole exome sequencing identified ATP6V1C2 as a novel
            candidate gene for recessive distal renal tubular acidosis.
REFERENCE   3  (bases 1 to 3259)
  AUTHORS   Couto-Vieira,J., Nicolau-Neto,P., Costa,E.P., Figueira,F.F.,
            Simao,T.A., Okorokova-Facanha,A.L., Ribeiro Pinto,L.F. and
            Facanha,A.R.
  TITLE     Multi-cancer V-ATPase molecular signatures: A distinctive balance
            of subunit C isoforms in esophageal carcinoma
  JOURNAL   EBioMedicine 51, 102581 (2020)
   PUBMED   31901859
  REMARK    GeneRIF: Multi-cancer V-ATPase molecular signatures: A distinctive
            balance of subunit C isoforms in esophageal carcinoma.
REFERENCE   4  (bases 1 to 3259)
  AUTHORS   Yu,B., Barbalic,M., Brautbar,A., Nambi,V., Hoogeveen,R.C., Tang,W.,
            Mosley,T.H., Rotter,J.I., deFilippi,C.R., O'Donnell,C.J.,
            Kathiresan,S., Rice,K., Heckbert,S.R., Ballantyne,C.M., Psaty,B.M.
            and Boerwinkle,E.
  CONSRTM   CARDIoGRAM Consortium
  TITLE     Association of genome-wide variation with highly sensitive cardiac
            troponin-T levels in European Americans and Blacks: a meta-analysis
            from atherosclerosis risk in communities and cardiovascular health
            studies
  JOURNAL   Circ Cardiovasc Genet 6 (1), 82-88 (2013)
   PUBMED   23247143
REFERENCE   5  (bases 1 to 3259)
  AUTHORS   Hohn,A., Sittig,A., Jung,T., Grimm,S. and Grune,T.
  TITLE     Lipofuscin is formed independently of macroautophagy and lysosomal
            activity in stress-induced prematurely senescent human fibroblasts
  JOURNAL   Free Radic Biol Med 53 (9), 1760-1769 (2012)
   PUBMED   22982048
REFERENCE   6  (bases 1 to 3259)
  AUTHORS   Smith,A.N., Lovering,R.C., Futai,M., Takeda,J., Brown,D. and
            Karet,F.E.
  TITLE     Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit
            genes
  JOURNAL   Mol Cell 12 (4), 801-803 (2003)
   PUBMED   14580332
REFERENCE   7  (bases 1 to 3259)
  AUTHORS   Kawasaki-Nishi,S., Nishi,T. and Forgac,M.
  TITLE     Proton translocation driven by ATP hydrolysis in V-ATPases
  JOURNAL   FEBS Lett 545 (1), 76-85 (2003)
   PUBMED   12788495
  REMARK    Review article
REFERENCE   8  (bases 1 to 3259)
  AUTHORS   Smith,A.N., Borthwick,K.J. and Karet,F.E.
  TITLE     Molecular cloning and characterization of novel tissue-specific
            isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and
            their evaluation in autosomal recessive distal renal tubular
            acidosis
  JOURNAL   Gene 297 (1-2), 169-177 (2002)
   PUBMED   12384298
REFERENCE   9  (bases 1 to 3259)
  AUTHORS   Nishi,T. and Forgac,M.
  TITLE     The vacuolar (H+)-ATPases--nature's most versatile proton pumps
  JOURNAL   Nat Rev Mol Cell Biol 3 (2), 94-103 (2002)
   PUBMED   11836511
  REMARK    Review article
REFERENCE   10 (bases 1 to 3259)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092687.3, BX358022.2,
            DB230703.1, AY039759.1 and BC012142.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001039362.1.
            
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            eukaryotic intracellular organelles. V-ATPase dependent organelle
            acidification is necessary for such intracellular processes as
            protein sorting, zymogen activation, receptor-mediated endocytosis,
            and synaptic vesicle proton gradient generation. V-ATPase is
            composed of a cytosolic V1 domain and a transmembrane V0 domain.
            The V1 domain consists of three A,three B, and two G subunits, as
            well as a C, D, E, F, and H subunit. The V1 domain contains the ATP
            catalytic site. This gene encodes alternate transcriptional splice
            variants, encoding different V1 domain C subunit isoforms.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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##
            CDS exon combination :: ERR279865.646.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968832, SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272238.9/ ENSP00000272238.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AC092687.3         48678-48696
            20-26               BX358022.2         1-7
            27-107              DB230703.1         1-81
            108-953             AY039759.1         1-846
            954-1091            AC092687.3         104633-104770
            1092-1602           AY039759.1         847-1357
            1603-3259           BC012142.1         1357-3013
FEATURES             Location/Qualifiers
     source          1..3259
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     gene            1..3259
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="ATPase H+ transporting V1 subunit C2"
                     /db_xref="GeneID:245973"
                     /db_xref="HGNC:HGNC:18264"
                     /db_xref="MIM:618070"
     exon            1..102
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            103..257
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1412
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /EC_number="7.1.2.2"
                     /note="isoform a is encoded by transcript variant 1;
                     V-ATPase C2 subunit; V-type proton ATPase subunit C 2;
                     vacuolar proton pump subunit C 2; ATPase, H+ transporting,
                     lysosomal 42kDa, V1 subunit C2"
                     /codon_start=1
                     /product="V-type proton ATPase subunit C 2 isoform a"
                     /protein_id="NP_001034451.1"
                     /db_xref="CCDS:CCDS42653.1"
                     /db_xref="GeneID:245973"
                     /db_xref="HGNC:HGNC:18264"
                     /db_xref="MIM:618070"
                     /translation="MSEFWLISAPGDKENLQALERMNTVTSKSNLSYNTKFAIPDFKV
                     GTLDSLVGLSDELGKLDTFAESLIRRMAQSVVEVMEDSKGKVQEHLLANGVDLTSFVT
                     HFEWDMAKYPVKQPLVSVVDTIAKQLAQIEMDLKSRTAAYNTLKTNLENLEKKSMGNL
                     FTRTLSDIVSKEDFVLDSEYLVTLLVIVPKPNYSQWQKTYESLSDMVVPRSTKLITED
                     KEGGLFTVTLFRKVIEDFKTKAKENKFTVREFYYDEKEIEREREEMARLLSDKKQQYQ
                     TSCVALKKGSSTFPDHKVKVTPLGNPDRPAAGQTDRERESEGEGEGPLLRWLKVNFSE
                     AFIAWIHIKALRVFVESVLRYGLPVNFQAVLLQPHKKSSTKRLREVLNSVFRHLDEVA
                     ATSILDASVEIPGLQLNNQDYFPYVYFHIDLSLLD"
     exon            258..325
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            326..411
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            412..506
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            507..598
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            599..697
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            698..766
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            767..859
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            860..953
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1091
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1189
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1322
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..3259
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1573..1578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="hexamer: AATAAA"
     polyA_site      1610
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
     regulatory      3239..3244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="hexamer: AATAAA"
     polyA_site      3259
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="major polyA site"
ORIGIN      
        1 gaagccgctg cctcccggga gccggcagag cgctccggcc ccgcacccgc cgcccgtcgc
       61 ccgcagcccc ctaccgcgcg gcccgcgccc cgccggctcc cgtcactggg taagagaaga
      121 ctggaagcat gtcggagttt tggttaattt ctgcccctgg cgataaggaa aatttgcaag
      181 ctctggagag gatgaatact gtaacctcca agtccaacct gtcttataat accaaattcg
      241 ctattcctga cttcaaggtg gggaccttgg attccctggt tggcctctct gatgagttgg
      301 ggaaactcga cacctttgct gaaagcctca taaggagaat ggctcagagc gtggtggaag
      361 tcatggagga ctcaaagggg aaggtccagg agcacctcct ggcaaacgga gttgacttaa
      421 catcctttgt gacccacttt gaatgggaca tggccaaata tcctgtcaag cagccgctcg
      481 tgagtgtggt ggacacaata gccaagcaac tggcgcagat cgagatggac ctgaagtccc
      541 gaacggccgc ctacaacact ctgaagacaa acctggagaa cctggaaaag aaatccatgg
      601 ggaacctctt cacccggaca ctgagtgata ttgtgagcaa agaggacttc gtgctggatt
      661 ctgaatatct cgtcacactt ctggtcatcg tccccaaacc aaactactca caatggcaaa
      721 aaacctacga atctctctca gacatggtgg tccctcgatc aaccaaactc attactgagg
      781 acaaggaagg gggccttttc actgtgactc tgtttcgaaa agtgattgaa gatttcaaaa
      841 ccaaggccaa agaaaacaag ttcactgttc gtgaatttta ctatgatgag aaggaaattg
      901 aaagggaaag ggaggagatg gccagattgc tgtctgataa gaagcaacag tatcaaactt
      961 cctgtgttgc tcttaaaaag ggatcatcca ccttcccgga ccacaaggtt aaggtaaccc
     1021 cgctaggtaa ccctgatagg cctgctgcgg ggcagaccga cagagagaga gagagtgagg
     1081 gcgagggtga gggccccctg ctgcgctggc tcaaggtgaa cttcagtgaa gccttcattg
     1141 cctggatcca catcaaggcc ctgagagtgt ttgtggagtc cgtgctcagg tatggactac
     1201 cagtgaactt ccaggcagtg ctcctgcagc cgcataagaa gtcatccacc aagcgtttaa
     1261 gagaggttct aaactctgtc ttccgacatc tggatgaagt agccgctaca agtatactgg
     1321 atgcatctgt ggagatcccg ggactgcaac tcaataacca agactatttt ccttatgtct
     1381 acttccatat tgaccttagt cttcttgact agaaaggcca gctggcacct ctgtctcatg
     1441 ttcgtgcaga ttattacaga cacctctttc ctttagccag agaatggttc aaatgtctta
     1501 cagaactaag atctttttca gagaaattgc tcacaaaagt tagtgacagt tgtatttatt
     1561 tttttaagtt acaataaaat gctctcaagt cctttgaatg ttccaacaaa ttcaaaactt
     1621 cattttctga atgttttaca taaatgcgaa ctacctgttc gcattggtaa cctgctgctg
     1681 tatttcatgt cttaacggct attttgaggt tcattaacaa catagaaagc cttgaactgt
     1741 ataaccagct agattcctta ataattagtc actagagaca gcccaaagac aaatattggg
     1801 caggaaatca gttctcactg agcccggttt ccatgtaaaa tctctgttgt ggtgggcata
     1861 ggtggcacca tctaaagaaa agaggtcttg ttttttgttt aaaaaagttt gtggggagga
     1921 aagacatctg tgtatcactt caaaatattg atttactgct aaacatcact ctgaatttat
     1981 gatgtggata ctaacttcat acatttatcg gcattgtcca aaatatttta ttctttaatg
     2041 gaaaaagcca ttaatattca aatgaaggga tcacattaaa aaaaacccat acataagaaa
     2101 cagcctccaa gaacattcaa gcagcagtca gagagaaaaa tgtttcgaca gccaagtttt
     2161 cttcaaaata ttatgtgaca gaatacgact caattcaccg gctacaacaa ttcatagaat
     2221 ttttcaatgt tttcttgaga tgcaaaagtt cactgttgca gtgttttcaa atgaccaatc
     2281 aagtactact tcttggttaa aaggccactg gtagagtcat ctgagtgtag agaatgtccc
     2341 ttcactgctg gaaaaatcca ctggctccca agaaaagaaa atggtctgaa gcctctgttg
     2401 tggctctcac aactcatctt tccctaagtc atcaagctcc acatcactga ggtcaatgtc
     2461 atcctccacg ggaagctggg agacgacaga aagccactgt tagatctgca gaaggggaca
     2521 ccctggaagg tcaacatctc attttatgga agagcgactc tctggagcta ctcctgctac
     2581 aatccaggtt ctcctcagtc tgactcctac cctgaccttc gtacctatga ttatacggat
     2641 ggaaaagctc agaactcagg tgaaacattt caacatcaca tcactcacca ttttaacact
     2701 ggaagccact tgaacgtgtc cttttgagga gggtgggaca caacagtaca gaaataagtg
     2761 ctaatttcaa agctatcatt ttctattttt ctaagataaa gtaaatgaat tccaggttaa
     2821 atgttcactt taaggtaata atcaggaaag caaccttact actgaaatgt atcttggctg
     2881 tcaagagtat caaatgccat gcagcactta aacttgtgat aaggaagatg aagggtcttc
     2941 agagaagaac ctcttaaaag gcccacgggt gcaccagggc tgaggtctga tgggaaggac
     3001 ttgactccag gtgcagagat gcacaggctc aagagagtaa accaggactg ctgcccgcac
     3061 agcttccctc ccgggcactc acctcgccat ccctgccgtc ccaaggctct ctctcaacga
     3121 tggtagggaa agccccgcct cctacaggtg ccgtggagcc acgcccaaaa gagagctccc
     3181 ttagggaaaa atgaccaaaa cacacacaca catttacaat ggactgctgg tgcagaagaa
     3241 taaacaactt taaaaataa
//
