LOCUS       NM_001376861             556 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit G3 (ATP6V1G3),
            transcript variant 4, mRNA.
ACCESSION   NM_001376861 XM_006711163
VERSION     NM_001376861.1
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 556)
  AUTHORS   Chen,Y. and Hu,J.
  TITLE     ATP6V1G3 Acts as a Key Gene in Recurrent Spontaneous Abortion: An
            Integrated Bioinformatics Analysis
  JOURNAL   Med Sci Monit 26, e927537 (2020)
   PUBMED   33028803
  REMARK    GeneRIF: ATP6V1G3 Acts as a Key Gene in Recurrent Spontaneous
            Abortion: An Integrated Bioinformatics Analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 556)
  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   3  (bases 1 to 556)
  AUTHORS   Low,S.K., Chung,S., Takahashi,A., Zembutsu,H., Mushiroda,T.,
            Kubo,M. and Nakamura,Y.
  TITLE     Genome-wide association study of chemotherapeutic agent-induced
            severe neutropenia/leucopenia for patients in Biobank Japan
  JOURNAL   Cancer Sci 104 (8), 1074-1082 (2013)
   PUBMED   23648065
REFERENCE   4  (bases 1 to 556)
  AUTHORS   Kamatani,Y., Matsuda,K., Okada,Y., Kubo,M., Hosono,N., Daigo,Y.,
            Nakamura,Y. and Kamatani,N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   5  (bases 1 to 556)
  AUTHORS   Hinton,A., Sennoune,S.R., Bond,S., Fang,M., Reuveni,M.,
            Sahagian,G.G., Jay,D., Martinez-Zaguilan,R. and Forgac,M.
  TITLE     Function of a subunit isoforms of the V-ATPase in pH homeostasis
            and in vitro invasion of MDA-MB231 human breast cancer cells
  JOURNAL   J Biol Chem 284 (24), 16400-16408 (2009)
   PUBMED   19366680
  REMARK    GeneRIF: V-ATPases affecting the pH of the cytosol and
            intracellular compartments, particularly those containing a3, are
            also involved in invasion in breast cancer
REFERENCE   6  (bases 1 to 556)
  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   7  (bases 1 to 556)
  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   8  (bases 1 to 556)
  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   9  (bases 1 to 556)
  AUTHORS   Brown,D., Lui,B., Gluck,S. and Sabolic,I.
  TITLE     A plasma membrane proton ATPase in specialized cells of rat
            epididymis
  JOURNAL   Am J Physiol 263 (4 Pt 1), C913-C916 (1992)
   PUBMED   1415677
REFERENCE   10 (bases 1 to 556)
  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 AI791754.1, BC101130.1 and
            BF509031.1.
            
            On Nov 20, 2019 this sequence version replaced XM_006711163.3.
            
            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 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 gene
            encodes one of three G subunit proteins. Transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            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 :: BX114684.1, CB046058.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367382.6/ ENSP00000356352.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AI791754.1         15-18
            5-437               BC101130.1         1-433
            438-556             BF509031.1         14-132              c
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..556
                     /gene="ATP6V1G3"
                     /gene_synonym="ATP6G3; Vma10"
                     /note="ATPase H+ transporting V1 subunit G3"
                     /db_xref="GeneID:127124"
                     /db_xref="HGNC:HGNC:18265"
                     /db_xref="MIM:618071"
     exon            1..112
                     /gene="ATP6V1G3"
                     /gene_synonym="ATP6G3; Vma10"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..387
                     /gene="ATP6V1G3"
                     /gene_synonym="ATP6G3; Vma10"
                     /EC_number="7.1.2.2"
                     /note="isoform a is encoded by transcript variant 4;
                     ATPase, H+ transporting, lysosomal (vacuolar proton pump)
                     subunit G3; vacuolar proton pump, subunit G3; V-ATPase G3
                     subunit; vacuolar ATP synthase subunit G 3; V-ATPase G
                     subunit 3; vacuolar proton pump G subunit 3; V-ATPase 13
                     kDa subunit 3; V-type proton ATPase subunit G 3; V-ATPase
                     subunit G 3; vacuolar proton pump subunit G 3; ATPase, H+
                     transporting, lysosomal 13kDa, V1 subunit G3"
                     /codon_start=1
                     /product="V-type proton ATPase subunit G 3 isoform a"
                     /protein_id="NP_001363790.1"
                     /db_xref="CCDS:CCDS1395.1"
                     /db_xref="GeneID:127124"
                     /db_xref="HGNC:HGNC:18265"
                     /db_xref="MIM:618071"
                     /translation="MTSQSQGIHQLLQAEKRAKDKLEEAKKRKGKRLKQAKEEAMVEI
                     DQYRMQRDKEFRLKQSKIMGSQNNLSDEIEEQTLGKIQELNGHYNKYMESVMNQLLSM
                     VCDMKPEIHVNYRATN"
     exon            113..213
                     /gene="ATP6V1G3"
                     /gene_synonym="ATP6G3; Vma10"
                     /inference="alignment:Splign:2.1.0"
     exon            214..556
                     /gene="ATP6V1G3"
                     /gene_synonym="ATP6G3; Vma10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      540..545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1G3"
                     /gene_synonym="ATP6G3; Vma10"
                     /note="hexamer: AACAAA"
     polyA_site      556
                     /gene="ATP6V1G3"
                     /gene_synonym="ATP6G3; Vma10"
                     /note="major polyA site"
ORIGIN      
        1 acagaagcca cttgcttgga gcagactacc atgacaagcc agtctcaggg gatccaccag
       61 cttcttcagg cagaaaaacg ggccaaggac aagctagagg aagccaagaa gagaaaagga
      121 aagcgattga agcaagccaa ggaggaagca atggtagaaa ttgaccagta cagaatgcag
      181 agagataaag agtttcgact aaaacaatct aagataatgg gctctcagaa taatctctca
      241 gatgaaatag aagaacaaac actagggaag atacaagaac ttaatggaca ctacaataag
      301 tatatggaaa gtgtgatgaa ccagctcttg agcatggtct gtgacatgaa accagaaatc
      361 catgtgaact acagagccac caactaaatg tacatcacag ttttcaagaa aaaaaaaggt
      421 gtgtgagtgc cacctggttg cttatggctt cgtattttta tgttgagaaa tttgaaatga
      481 gaaccttaaa tttacattta caggaaatgt gacataactc atacatcggc actgaattaa
      541 acaaaacaaa atacaa
//
