LOCUS       NM_020632               3136 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ATPase H+ transporting V0 subunit a4 (ATP6V0A4),
            transcript variant 1, mRNA.
ACCESSION   NM_020632
VERSION     NM_020632.3
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 3136)
  AUTHORS   Zhang,R., Chen,Z., Song,Q., Wang,S., Liu,Z., Zhao,X., Shi,X.,
            Guo,W., Lang,Y., Bottillo,I. and Shao,L.
  TITLE     Identification of seven exonic variants in the SLC4A1, ATP6V1B1,
            and ATP6V0A4 genes that alter RNA splicing by minigene assay
  JOURNAL   Hum Mutat 42 (9), 1153-1164 (2021)
   PUBMED   34157794
  REMARK    GeneRIF: Identification of seven exonic variants in the SLC4A1,
            ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene
            assay.
REFERENCE   2  (bases 1 to 3136)
  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 3136)
  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 3136)
  AUTHORS   Vasanthakumar,T. and Rubinstein,J.L.
  TITLE     Structure and Roles of V-type ATPases
  JOURNAL   Trends Biochem Sci 45 (4), 295-307 (2020)
   PUBMED   32001091
  REMARK    Review article
REFERENCE   5  (bases 1 to 3136)
  AUTHORS   Zhang,R., Wang,C., Lang,Y., Gao,Y., Chen,Z., Lu,J., Zhao,X. and
            Shao,L.
  TITLE     Five Novel Mutations in Chinese Children with Primary Distal Renal
            Tubular Acidosis
  JOURNAL   Genet Test Mol Biomarkers 22 (10), 599-606 (2018)
   PUBMED   30256676
  REMARK    GeneRIF: a novel heterozygous intronic mutation (c.639 + 1G>A) in
            the ATP6V0A4 gene was identified along with a heterozygous nonsense
            variant (c.580C>T, p.Arg194*).
REFERENCE   6  (bases 1 to 3136)
  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 3136)
  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 3136)
  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 3136)
  AUTHORS   Alexander,R.T., Law,L., Gil-Pena,H., Greenbaum,L.A. and Santos,F.
  TITLE     Hereditary Distal Renal Tubular Acidosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31600044
REFERENCE   10 (bases 1 to 3136)
  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 DB230144.1, BC109305.1,
            AF245517.1 and BC109304.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_020632.2.
            
            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. This gene is one of four
            genes in man and mouse that encode different isoforms of the a
            subunit. Alternatively spliced transcript variants encoding the
            same protein have been described. Mutations in this gene are
            associated with renal tubular acidosis associated with preserved
            hearing. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is the longest transcript.
            Variants 1, 2, and 3 encode the same 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 :: AF245517.1, AK292945.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968832,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310018.7/ ENSP00000308122.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-287               DB230144.1         1-287
            288-1037            BC109305.1         93-842
            1038-1944           AF245517.1         1023-1929
            1945-2094           BC109305.1         1750-1899
            2095-2904           BC109304.1         1900-2709
            2905-3136           AF245517.1         2890-3121
FEATURES             Location/Qualifiers
     source          1..3136
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..3136
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /note="ATPase H+ transporting V0 subunit a4"
                     /db_xref="GeneID:50617"
                     /db_xref="HGNC:HGNC:866"
                     /db_xref="MIM:605239"
     exon            1..163
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            164..266
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            267..400
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             284..2806
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /EC_number="7.1.2.2"
                     /note="ATPase, H+ transporting, lysosomal (vacuolar proton
                     pump) non-catalytic accessory protein 1B; ATPase, H+
                     transporting, lysosomal (vacuolar proton pump)
                     non-catalytic accessory protein 2 (38kD); vacuolar proton
                     pump 116 kDa accessory subunit; H(+)-transporting
                     two-sector ATPase, noncatalytic accessory protein 1B;
                     vacuolar proton pump, subunit 2; V-type proton ATPase 116
                     kDa subunit a; V-ATPase 116 kDa; ATPase, H+ transporting,
                     lysosomal V0 subunit a4; V-ATPase subunit a4; V-ATPase 116
                     kDa isoform a 4"
                     /codon_start=1
                     /product="V-type proton ATPase 116 kDa subunit a 4"
                     /protein_id="NP_065683.2"
                     /db_xref="CCDS:CCDS5849.1"
                     /db_xref="GeneID:50617"
                     /db_xref="HGNC:HGNC:866"
                     /db_xref="MIM:605239"
                     /translation="MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNV
                     NSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQLLEKSPLTPLPREMITLETVLEK
                     LEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELK
                     AVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQ
                     KNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDLITVITQ
                     TESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATR
                     IKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREIN
                     PAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRY
                     LILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPA
                     IPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSLFNHIYF
                     RRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNY
                     SDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATE
                     NIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVFVHQAIHTIEYCLGCISNTAS
                     YLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEG
                     LSAFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE"
     exon            401..479
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            480..574
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            575..700
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            701..795
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            796..922
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1005
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1099
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1312
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1463
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1603
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1761
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1762..1855
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1856..1974
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1975..2191
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2192..2293
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2294..2422
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2423..2540
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2541..2712
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2713..3136
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3116..3121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /note="hexamer: AATAAA"
     polyA_site      3136
                     /gene="ATP6V0A4"
                     /gene_synonym="A4; ATP6N1B; ATP6N2; DRTA3; RDRTA2; RTA1C;
                     RTADR; STV1; VPH1; VPP2"
                     /note="major polyA site"
ORIGIN      
        1 ataacgctac ctgccgagca agccgagtgg agggaggcaa aggccaggct gaggatcagg
       61 gtggcccggg tggcagcggg gaggcgctgc atgctggagg ctgtgctgag tgcccggtgc
      121 aggtgagccg gtcctgcgga gttgtgccga gtgcctgctg cagtctcatt tccagttcct
      181 ccatgacgtg gcaagtgaag acaggaatga aaggaatgta aagcagcttt tctctgaaga
      241 gaagaagaga gagagacaca gccaagaccg aggctgggcc aagatggtgt ctgtgtttcg
      301 aagcgaggag atgtgtttgt cacaactgtt tctccaggtg gaagctgcat attgctgtgt
      361 ggctgagctc ggagagctcg gattggttca gttcaaagat ttaaatatga atgtgaacag
      421 ctttcaaagg aaatttgtga atgaagtcag aaggtgtgaa tcactggaga gaatcctccg
      481 ttttctggaa gacgagatgc aaaatgagat tgtagttcag ttgctcgaga aaagcccact
      541 gaccccgctc ccacgggaaa tgattaccct ggagactgtt ctagaaaaac tggaaggaga
      601 gttacaggaa gccaaccaga accagcaggc cttgaaacaa agcttcctag aactgacaga
      661 actgaaatac ctcctgaaga aaacccaaga cttctttgag acggaaacca atttagctga
      721 tgatttcttt actgaggaca cttctggcct cctggagttg aaagcagtgc ctgcatatat
      781 gaccggaaag ttggggttca tagccggtgt gatcaacagg gagaggatgg cttcctttga
      841 gcggttactg tggcgaatct gccgaggaaa cgtgtacttg aagttcagtg agatggacgc
      901 ccctctggag gatcctgtga cgaaagaaga aattcagaag aacatattca tcatatttta
      961 ccaaggagag cagctcaggc agaaaatcaa gaagatctgt gatgggtttc gagccactgt
     1021 ctacccttgc ccagagcctg cggtggagcg cagagagatg ttggagagcg tcaatgtgag
     1081 gctggaagat ttaatcaccg tcataacaca aacagagtct caccgccagc gcctgctgca
     1141 ggaagccgct gccaactggc actcctggct catcaaggtg cagaagatga aagctgtcta
     1201 ccacatcctg aacatgtgca acatcgacgt cacccagcag tgtgtcatcg ccgagatctg
     1261 gttcccggtg gcagatgcca cacgtatcaa gagggcactg gagcaaggca tggaactaag
     1321 tggctcctcc atggccccca tcatgaccac agtgcaatct aaaacagccc ctcccacatt
     1381 taacaggacc aataaattca cagctggctt ccagaatatt gttgatgcct atggtgtcgg
     1441 cagctaccgg gagataaacc cagcccccta caccatcatc actttcccct tcctgttcgc
     1501 tgtgatgttt ggagactgtg gtcatggaac cgtgatgctc ctggctgcac tttggatgat
     1561 tctgaatgag agacgcttgc tctcccagaa gacagacaat gagatttgga acaccttctt
     1621 ccacgggcgc tatctgatcc tacttatggg catcttctcc atctacacgg gtttgatcta
     1681 caatgactgc ttctccaagt ccttgaacat ctttggctct tcttggagtg tccaacccat
     1741 gttcagaaac ggcacatgga atactcatgt aatggaggaa agtctatatc tgcagctgga
     1801 cccagccata ccaggagtgt attttggaaa tccatacccg tttgggattg atccgatttg
     1861 gaacttggct tcaaacaaac tcacatttct gaactcgtat aaaatgaaga tgtcggtgat
     1921 cctgggaatt gtccagatgg ttttcggtgt catcctcagc cttttcaatc acatatactt
     1981 cagaagaact ctcaacatca ttctgcaatt tatccctgag atgattttta tcctgtgtct
     2041 gtttggatac ctggttttca tgatcatttt caaatggtgc tgctttgacg tccatgtatc
     2101 tcagcacgcc cccagcatcc tcatccactt catcaacatg tttctgttta actacagtga
     2161 ctcttccaac gcacccctct acaaacatca gcaagaagtc caaagtttct ttgtggttat
     2221 ggctttgatt tctgtgccgt ggatgcttct gattaagccg tttattctta gagccagtca
     2281 tcggaaatcc cagctgcagg catccaggat ccaagaagat gccactgaga acattgaagg
     2341 tgatagctcc agcccttcta gccgttctgg ccagaggact tctgcagata cccacggggc
     2401 tctggacgac catggagaag agttcaactt tggagacgtc tttgtccacc aagccatcca
     2461 caccatcgag tactgcctgg gctgcatttc aaacacagcc tcctacctgc ggctctgggc
     2521 cctcagcctg gctcatgcac aactgtctga agtgctctgg actatggtga tgaacagcgg
     2581 ccttcagacg cgaggctggg gaggaatcgt cggggttttt attatttttg ccgtatttgc
     2641 tgtcctgaca gtagccatcc ttctgatcat ggagggcctc tctgctttcc tgcacgccct
     2701 gcgactgcac tgggttgagt tccagaacaa gttctatgtc ggggatggtt acaagttttc
     2761 tccattctcc tttaaacaca tcctggatgg cacagccgag gagtaggctg agggctgcac
     2821 ctcccacggt ggtcaccatg ccaatgaagg aagttcagtc ttgtctttga tatcagcccc
     2881 tgcaaggcgc tcaatgggaa ggttgttctt ggctcacctg aagcatgaaa ctgtgtatta
     2941 tttggacgtc agcctgtgga tttgatacga cttaaccacg tcagaggaag gactttggca
     3001 agtgatattg tcttcatgtg gggtattaat tctcaaataa taaagtaatt gacaaatgag
     3061 gggagaatgc taaacagatg tcttcttgca atattttaaa tattgtattt gagaaaataa
     3121 acatctgagt cattca
//
