LOCUS       NM_015941               2120 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit H (ATP6V1H),
            transcript variant 1, mRNA.
ACCESSION   NM_015941
VERSION     NM_015941.4
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 2120)
  AUTHORS   Hou,Y., Yang,S., Zhao,Z., Huang,Y., Zhang,Y., Ruan,W. and Duan,X.
  TITLE     Long Noncoding RNA lnc-TCEA1-3 Affects Osteoclastic Function by
            Regulating ATP6V1H
  JOURNAL   Crit Rev Eukaryot Gene Expr 34 (1), 15-26 (2024)
   PUBMED   37824389
  REMARK    GeneRIF: Long Noncoding RNA lnc-TCEA1-3 Affects Osteoclastic
            Function by Regulating ATP6V1H.
REFERENCE   2  (bases 1 to 2120)
  AUTHORS   Wang,L., Wu,D., Robinson,C.V., Wu,H. and Fu,T.M.
  TITLE     Structures of a Complete Human V-ATPase Reveal Mechanisms of Its
            Assembly
  JOURNAL   Mol Cell 80 (3), 501-511 (2020)
   PUBMED   33065002
REFERENCE   3  (bases 1 to 2120)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2120)
  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   5  (bases 1 to 2120)
  AUTHORS   Molina,M.F., Qu,H.Q., Rentfro,A.R., Nair,S., Lu,Y., Hanis,C.L.,
            McCormick,J.B. and Fisher-Hoch,S.P.
  TITLE     Decreased expression of ATP6V1H in type 2 diabetes: a pilot report
            on the diabetes risk study in Mexican Americans
  JOURNAL   Biochem Biophys Res Commun 412 (4), 728-731 (2011)
   PUBMED   21871445
  REMARK    GeneRIF: ATP6V1H may represent a critical molecular mechanism
            involved in the development of type 2 diabetes and its compilations
            through its important regulatory effect on vacuolar-ATPase
            activity.
REFERENCE   6  (bases 1 to 2120)
  AUTHORS   Mandic,R., Fackler,O.T., Geyer,M., Linnemann,T., Zheng,Y.H. and
            Peterlin,B.M.
  TITLE     Negative factor from SIV binds to the catalytic subunit of the
            V-ATPase to internalize CD4 and to increase viral infectivity
  JOURNAL   Mol Biol Cell 12 (2), 463-473 (2001)
   PUBMED   11179428
REFERENCE   7  (bases 1 to 2120)
  AUTHORS   Lu,X., Yu,H., Liu,S.H., Brodsky,F.M. and Peterlin,B.M.
  TITLE     Interactions between HIV1 Nef and vacuolar ATPase facilitate the
            internalization of CD4
  JOURNAL   Immunity 8 (5), 647-656 (1998)
   PUBMED   9620685
REFERENCE   8  (bases 1 to 2120)
  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 2120)
  AUTHORS   Garcia,J.V. and Miller,A.D.
  TITLE     Serine phosphorylation-independent downregulation of cell-surface
            CD4 by nef
  JOURNAL   Nature 350 (6318), 508-511 (1991)
   PUBMED   2014052
REFERENCE   10 (bases 1 to 2120)
  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 DA147153.1, BC025275.1,
            AI741756.1 and BG197001.1.
            
            On Nov 22, 2018 this sequence version replaced NM_015941.3.
            
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            intracellular organelles. V-ATPase-dependent organelle
            acidification is necessary for multiple processes including protein
            sorting, zymogen activation, receptor-mediated endocytosis, and
            synaptic vesicle proton gradient generation. The encoded protein is
            the regulatory H subunit of the V1 domain of V-ATPase, which is
            required for catalysis of ATP but not the assembly of V-ATPase.
            Decreased expression of this gene may play a role in the
            development of type 2 diabetes. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 3 encode the same 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 :: BC025275.1, AK022345.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359530.7/ ENSP00000352522.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DA147153.1         67-77
            12-1993             BC025275.1         1-1982
            1994-2108           AI741756.1         13-127              c
            2109-2120           BG197001.1         439-450
FEATURES             Location/Qualifiers
     source          1..2120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.23"
     gene            1..2120
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /note="ATPase H+ transporting V1 subunit H"
                     /db_xref="GeneID:51606"
                     /db_xref="HGNC:HGNC:18303"
                     /db_xref="MIM:608861"
     exon            1..212
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            213..360
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     CDS             248..1699
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /EC_number="7.1.2.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vacuolar ATPase subunit H; vacuolar ATP synthase subunit
                     H; V-type proton ATPase subunit H; protein VMA13 homolog;
                     V-ATPase subunit H; nef-binding protein 1; V-ATPase 50/57
                     kDa subunits; vacuolar proton pump subunit H; vacuolar
                     proton pump subunit SFD; ATPase, H+ transporting,
                     lysosomal 50/57kDa, V1 subunit H"
                     /codon_start=1
                     /product="V-type proton ATPase subunit H isoform 1"
                     /protein_id="NP_057025.2"
                     /db_xref="CCDS:CCDS6153.1"
                     /db_xref="GeneID:51606"
                     /db_xref="HGNC:HGNC:18303"
                     /db_xref="MIM:608861"
                     /translation="MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISA
                     EDCEFIQRFEMKRSPEEKQEMLQTEGSQCAKTFINLMTHICKEQTVQYILTMVDDMLQ
                     ENHQRVSIFFDYARCSKNTAWPYFLPMLNRQDPFTVHMAARIIAKLAAWGKELMEGSD
                     LNYYFNWIKTQLSSQKLRGSGVAVETGTVSSSDSSQYVQCVAGCLQLMLRVNEYRFAW
                     VEADGVNCIMGVLSNKCGFQLQYQMIFSIWLLAFSPQMCEHLRRYNIIPVLSDILQES
                     VKEKVTRIILAAFRNFLEKSTERETRQEYALAMIQCKVLKQLENLEQQKYDDEDISED
                     IKFLLEKLGESVQDLSSFDEYSSELKSGRLEWSPVHKSEKFWRENAVRLNEKNYELLK
                     ILTKLLEVSDDPQVLAVAAHDVGEYVRHYPRGKRVIEQLGGKQLVMNHMHHEDQQVRY
                     NALLAVQKLMVHNWEYLGKQLQSEQPQTAAARS"
     exon            361..463
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            464..553
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            554..667
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            668..772
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            773..826
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            827..924
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1117
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1296
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1422
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..1524
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            1525..1638
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..2120
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1972..1977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /note="hexamer: ATTAAA"
     polyA_site      1993
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /note="major polyA site"
     regulatory      2089..2094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
                     /note="hexamer: AATAAA"
     polyA_site      2120
                     /gene="ATP6V1H"
                     /gene_synonym="CGI-11; MSTP042; NBP1; SFD; SFDalpha;
                     SFDbeta; VMA13"
ORIGIN      
        1 cttctacctg tgcggccctc aacgtctcct tggtgcggga cccgcttcac tttcggctcc
       61 cggagtctcc ctccactgct cagacctctg gacctgacag gagacgccta cttggctctg
      121 acgcggcgcc ccagcccggc tgtgtccccg gcgccccgga ccaccctccc tgccggcttt
      181 gggtgcgttg tggggtcccg aggattcgcg agatttgttg aaagacattc aagattacga
      241 agtttagatg accaaaatgg atatccgagg tgctgtggat gctgctgtcc ccaccaatat
      301 tattgctgcc aaggctgcag aagttcgtgc aaacaaagtc aactggcaat cctatcttca
      361 gggacagatg atttctgctg aagattgtga gtttattcag aggtttgaaa tgaaacgaag
      421 ccctgaagag aagcaagaga tgcttcaaac tgaaggcagc cagtgtgcta aaacatttat
      481 aaatctgatg actcatatct gcaaagaaca gaccgttcag tatatactaa ctatggtgga
      541 tgatatgctg caggaaaatc atcagcgtgt tagcattttc tttgactatg caagatgtag
      601 caagaacact gcgtggccct actttctgcc aatgttgaat cgccaggatc ccttcactgt
      661 tcatatggca gcaagaatta ttgccaagtt agcagcttgg ggaaaagaac tgatggaagg
      721 cagtgactta aattactatt tcaattggat aaaaactcag ctgagttcac agaaactgcg
      781 tggtagcggt gttgctgttg aaacaggaac agtctcttca agtgatagtt cgcagtatgt
      841 gcagtgcgtg gccgggtgtt tgcagctgat gctccgggtc aatgagtacc gctttgcttg
      901 ggtggaagca gatggggtaa attgcataat gggagtgttg agtaacaagt gtggctttca
      961 gctccagtat caaatgattt tttcaatatg gctcctggca ttcagtcctc aaatgtgtga
     1021 acacctgcgg cgctataata tcattccagt tctgtctgat atccttcagg agtctgtcaa
     1081 agagaaagta acaagaatca ttcttgcagc atttcgtaac tttttagaaa aatcaactga
     1141 aagagaaact cgccaagaat atgccctggc tatgattcag tgcaaagttc tgaaacagtt
     1201 ggagaacttg gaacagcaga agtacgatga tgaagatatc agcgaagata tcaaatttct
     1261 tttggaaaaa cttggagaga gtgtccagga ccttagttca tttgatgaat acagttcaga
     1321 acttaaatct ggaaggttgg aatggagtcc tgtgcacaaa tctgagaaat tttggagaga
     1381 gaatgctgtg aggttaaatg agaagaatta tgaactcttg aaaatcttga caaaactttt
     1441 ggaagtgtca gatgatcccc aagtcttagc tgttgctgct cacgatgttg gagaatatgt
     1501 gcggcattat ccacgaggca aacgggtcat cgagcagctc ggtgggaagc agctggtcat
     1561 gaaccacatg catcatgaag accagcaggt ccgctataat gctctgctgg ccgtgcagaa
     1621 gctcatggtg cacaactggg aataccttgg caagcagctc cagtccgagc agccccagac
     1681 cgctgccgcc cgaagctaag cctgcctctg gccttcccct ccgcctcaat gcagaaccag
     1741 tagtgggagc actgtgttta gagttaagag tgaacactgt ttgattttac ttggaatttc
     1801 ctctgttata tagcttttcc caatgctaat ttccaaacaa caacaacaaa ataacatgtt
     1861 tgcctgttaa gttgtataaa agtaggtgat tctgtattta aagaaaatat tactgttaca
     1921 tatactgctt gcaatttctg tatttattgt tctctggaaa taaatatagt tattaaagga
     1981 ttctcactcc aaacatggcc tctctcttta cttggacttt gaacaaaagt caactgttgt
     2041 ctcttttcaa accaaattgg gagaattgtt gcaaagtagt gaatggcaaa taaatgtttt
     2101 aaaatctatc gctctatcaa
//
