LOCUS       NM_130463               1370 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit G2 (ATP6V1G2),
            transcript variant 1, mRNA.
ACCESSION   NM_130463
VERSION     NM_130463.4
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 1370)
  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 1370)
  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   3  (bases 1 to 1370)
  AUTHORS   Mewar,D., Marinou,I., Lee,M.E., Timms,J.M., Kilding,R., Teare,M.D.,
            Read,R.C. and Wilson,A.G.
  TITLE     Haplotype-specific gene expression profiles in a telomeric major
            histocompatibility complex gene cluster and susceptibility to
            autoimmune diseases
  JOURNAL   Genes Immun 7 (8), 625-631 (2006)
   PUBMED   16971954
REFERENCE   4  (bases 1 to 1370)
  AUTHORS   Shichi,D., Kikkawa,E.F., Ota,M., Katsuyama,Y., Kimura,A.,
            Matsumori,A., Kulski,J.K., Naruse,T.K. and Inoko,H.
  TITLE     The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the
            class III-class I boundary region of the human major
            histocompatibility complex may control susceptibility to hepatitis
            C virus-associated dilated cardiomyopathy
  JOURNAL   Tissue Antigens 66 (3), 200-208 (2005)
   PUBMED   16101831
REFERENCE   5  (bases 1 to 1370)
  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   6  (bases 1 to 1370)
  AUTHORS   Neville,M.J. and Campbell,R.D.
  TITLE     A new member of the Ig superfamily and a V-ATPase G subunit are
            among the predicted products of novel genes close to the TNF locus
            in the human MHC
  JOURNAL   J Immunol 162 (8), 4745-4754 (1999)
   PUBMED   10202016
REFERENCE   7  (bases 1 to 1370)
  AUTHORS   Nelson,N. and Harvey,W.R.
  TITLE     Vacuolar and plasma membrane proton-adenosinetriphosphatases
  JOURNAL   Physiol Rev 79 (2), 361-385 (1999)
   PUBMED   10221984
  REMARK    Review article
REFERENCE   8  (bases 1 to 1370)
  AUTHORS   Finbow,M.E. and Harrison,M.A.
  TITLE     The vacuolar H+-ATPase: a universal proton pump of eukaryotes
  JOURNAL   Biochem J 324 (Pt 3) (Pt 3), 697-712 (1997)
   PUBMED   9210392
  REMARK    Review article
REFERENCE   9  (bases 1 to 1370)
  AUTHORS   Stevens,T.H. and Forgac,M.
  TITLE     Structure, function and regulation of the vacuolar (H+)-ATPase
  JOURNAL   Annu Rev Cell Dev Biol 13, 779-808 (1997)
   PUBMED   9442887
  REMARK    Review article
REFERENCE   10 (bases 1 to 1370)
  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 DA129116.1, BC068023.2 and
            AL662801.7.
            
            On Nov 21, 2018 this sequence version replaced NM_130463.3.
            
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            intracellular compartments of eukaryotic cells. V-ATPase dependent
            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 and three B subunits, two G
            subunits plus the C, D, E, F, and H subunits. The V1 domain
            contains the ATP catalytic site. The V0 domain consists of five
            different subunits: a, c, c', c'', and d. Additional isoforms of
            many of the V1 and V0 subunit proteins are encoded by multiple
            genes or alternatively spliced transcript variants. This encoded
            protein is one of three V1 domain G subunit proteins. This gene had
            previous gene symbols of ATP6G and ATP6G2. Alternatively spliced
            transcript variants encoding different isoforms have been
            described. Read-through transcription also exists between this gene
            and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B
            (DDX39B) gene. [provided by RefSeq, Feb 2011].
            
            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 :: SRR3476690.80342.1,
                                           SRR5189655.203385.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303892.10/ ENSP00000302194.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-75                DA129116.1         109-183
            76-1352             BC068023.2         1-1277
            1353-1370           AL662801.7         17115-17132         c
FEATURES             Location/Qualifiers
     source          1..1370
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1370
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /note="ATPase H+ transporting V1 subunit G2"
                     /db_xref="GeneID:534"
                     /db_xref="HGNC:HGNC:862"
                     /db_xref="MIM:606853"
     exon            1..131
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..406
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /EC_number="7.1.2.2"
                     /note="isoform a is encoded by transcript variant 1;
                     vacuolar ATP synthase subunit G 2; V-ATPase 13 kDa subunit
                     2; vacuolar proton pump G subunit 2; H(+)-transporting
                     two-sector ATPase, subunit G2; V-type proton ATPase
                     subunit G 2; ATPase, H+ transporting, lysosomal (vacuolar
                     proton pump); ATPase, H+ transporting, lysosomal 13kDa, V1
                     subunit G2"
                     /codon_start=1
                     /product="V-type proton ATPase subunit G 2 isoform a"
                     /protein_id="NP_569730.1"
                     /db_xref="CCDS:CCDS4698.1"
                     /db_xref="GeneID:534"
                     /db_xref="HGNC:HGNC:862"
                     /db_xref="MIM:606853"
                     /translation="MASQSQGIQQLLQAEKRAAEKVADARKRKARRLKQAKEEAQMEV
                     EQYRREREHEFQSKQQAAMGSQGNLSAEVEQATRRQVQGMQSSQQRNRERVLAQLLGM
                     VCDVRPQVHPNYRISA"
     exon            132..232
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /inference="alignment:Splign:2.1.0"
     exon            233..1370
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1328..1333
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /note="hexamer: AATAAA"
     regulatory      1333..1338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /note="hexamer: AATAAT"
     regulatory      1347..1352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /note="hexamer: AATAAA"
     polyA_site      1348
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /note="major polyA site"
     polyA_site      1352
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
                     /note="major polyA site"
     polyA_site      1370
                     /gene="ATP6V1G2"
                     /gene_synonym="ATP6G; ATP6G2; NG38; VMA10"
ORIGIN      
        1 atctggtact ttgacagcat tcaaaacagc atcggccata acaacagaaa tggccagtca
       61 gtcccaaggt atccagcagc ttctgcaagc tgagaagcgg gcagctgaga aggtggcaga
      121 tgccagaaag aggaaggccc ggcgactgaa gcaggcaaag gaggaggcac agatggaggt
      181 ggagcaatac cgcagagagc gagagcacga attccagagc aagcagcagg cggccatggg
      241 ctcccagggg aacctgtctg ctgaggtgga gcaggctaca aggcgccagg tgcagggcat
      301 gcagagctcc cagcagagaa accgagagcg tgtcctggcc cagcttcttg gcatggtctg
      361 cgacgtcagg ccccaggtcc accccaacta ccggatttct gcctagggcc accgtagggc
      421 ctgactcctt ctgccagttc cctccctcaa agaaatcctc caatcaaaat cacctcccac
      481 cataatccct gtcttctttc catcccctag aaatcctggg aggcaggatc caataatttt
      541 cctgtgacac ttataaatat cctgctcaca tctgaatctc cttgttgttc tttaaccctc
      601 actgggactt tgtaaacttc caagtcattc tcacctaaac cctctgtgaa atttgtaata
      661 tggggaagta ggaatgtgga aaacatcctg acttcagtgt ctggccgatg tgggtccctc
      721 tcttgaccct gtcacttgct ggctgtgaaa ccaggacaag ctacttaact tggtagcctc
      781 gatgtcctcc tctgtgaaac tgggatgata ataatgccta ccttgtgagg gttgcttcaa
      841 tgattaggaa tcattctgta aagtctagca cagttccttg catgttgtag cagtgattca
      901 gtaagtagca accctgtgat actattacca ccacctgctc actggtcaaa acctacacag
      961 ctgtttcctc acgtccatca ctggctctct aattccactt gttcattctg tgaccctagt
     1021 tattttctga aaaattggtt cttctctttt cccagagacc ttctgatctc caaaaagagg
     1081 agatgactac atttagcccc tctcttataa ttccaggtag ataactgcat tttgtagcct
     1141 ctctttgttt ttcttttgct gatctttgtc tttattagat tttcctcctt tcctatttcc
     1201 ccaaagactt atcagatgct cattgctttc taagatctaa aatgatactg tgttccctca
     1261 tatgcatgcc cttcctttct atatccttga caccttactt tcccattgta acaataaaaa
     1321 aagtatcaat aaaataatta ttggcaaata aattggtgag ttgaagcagc
//
