LOCUS       NM_000704               3721 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ATPase H+/K+ transporting subunit alpha (ATP4A), mRNA.
ACCESSION   NM_000704
VERSION     NM_000704.3
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 3721)
  AUTHORS   Ihara,Y., Umeno,J. and Hori,Y.
  TITLE     Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene
            Mutations
  JOURNAL   Clin Gastroenterol Hepatol 18 (10), A22 (2020)
   PUBMED   31401365
  REMARK    GeneRIF: Type IV Gastric Carcinoids in the Stomach Caused by ATP4A
            Gene Mutations.
REFERENCE   2  (bases 1 to 3721)
  AUTHORS   Chobot,A., Rusak,E., Wenzlau,J., Davidson,H., Adamczyk,P.,
            Krzywicka,A., Mazur,B., Polanska,J. and Rewers,M.
  TITLE     ATP4A autoimmunity in pediatric patients with type 1 diabetes and
            its relationship to blood count, iron metabolism, and vitamin B12
  JOURNAL   Pediatr Diabetes 19 (1), 80-84 (2018)
   PUBMED   28401620
  REMARK    GeneRIF: ATP4A antibodies were present in a significant proportion
            of children with type 1 diabetes (T1D). Higher ATP4A levels in T1D
            children are associated with lower, yet still fitting within the
            normal range, levels of vitamin B12, and ferritin.
REFERENCE   3  (bases 1 to 3721)
  AUTHORS   Calvete,O., Herraiz,M., Reyes,J., Patino,A. and Benitez,J.
  TITLE     A cumulative effect involving malfunction of the PTH1R and ATP4A
            genes explains a familial gastric neuroendocrine tumor with
            hypothyroidism and arthritis
  JOURNAL   Gastric Cancer 20 (6), 998-1003 (2017)
   PUBMED   28474257
  REMARK    GeneRIF: Heterozygous mutations in the ATP4A and PTH1R genes were
            identified in a family with type I gastric neuroendocrine tumors
            plus hypothyroidism and rheumatoid arthritis
REFERENCE   4  (bases 1 to 3721)
  AUTHORS   Calvete,O., Varro,A., Pritchard,D.M., Barroso,A., Oteo,M.,
            Morcillo,M.A., Vargiu,P., Dodd,S., Garcia,M., Reyes,J., Ortega,S.
            and Benitez,J.
  TITLE     A knockin mouse model for human ATP4aR703C mutation identified in
            familial gastric neuroendocrine tumors recapitulates the
            premalignant condition of the human disease and suggests new
            therapeutic strategies
  JOURNAL   Dis Model Mech 9 (9), 975-984 (2016)
   PUBMED   27491072
  REMARK    GeneRIF: the generation and characterization of a knockin mouse
            model for the ATP4a(R703C) mutation to better understand the
            tumorigenesis process.
REFERENCE   5  (bases 1 to 3721)
  AUTHORS   Fossmark,R., Calvete,O., Mjones,P., Benitez,J. and Waldum,H.L.
  TITLE     ECL-cell carcinoids and carcinoma in patients homozygous for an
            inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit
  JOURNAL   APMIS 124 (7), 561-566 (2016)
   PUBMED   27150581
  REMARK    GeneRIF: In conclusion, patients homozygous for an inactivating
            ATP4A mutation develop gastric ECL-cell carcinoids in their 3rd or
            4th decade.
REFERENCE   6  (bases 1 to 3721)
  AUTHORS   Chow,D.C. and Forte,J.G.
  TITLE     Characterization of the beta-subunit of the H(+)-K(+)-ATPase using
            an inhibitory monoclonal antibody
  JOURNAL   Am J Physiol 265 (6 Pt 1), C1562-C1570 (1993)
   PUBMED   8279517
REFERENCE   7  (bases 1 to 3721)
  AUTHORS   Song,I., Yamada,T. and Trent,J.M.
  TITLE     Mapping of the gene encoding the alpha-subunit of the human
            H+,K(+)-ATPase to chromosome 19q13.1 by fluorescent in situ
            hybridization
  JOURNAL   Genomics 14 (2), 547-548 (1992)
   PUBMED   1330887
REFERENCE   8  (bases 1 to 3721)
  AUTHORS   Newman,P.R., Greeb,J., Keeton,T.P., Reyes,A.A. and Shull,G.E.
  TITLE     Structure of the human gastric H,K-ATPase gene and comparison of
            the 5'-flanking sequences of the human and rat genes
  JOURNAL   DNA Cell Biol 9 (10), 749-762 (1990)
   PUBMED   2176086
REFERENCE   9  (bases 1 to 3721)
  AUTHORS   Maeda,M., Oshiman,K., Tamura,S. and Futai,M.
  TITLE     Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ +
            K+)-ATPase genes in exon/intron organization but difference in
            control region
  JOURNAL   J Biol Chem 265 (16), 9027-9032 (1990)
   PUBMED   2160952
REFERENCE   10 (bases 1 to 3721)
  AUTHORS   Sverdlov,E.D., Monastyrskaya,G.S., Broude,N.E., Ushkaryov,Yu.A.,
            Allikmets,R.L., Melkov,A.M., Smirnov,Yu.V., Malyshev,I.V.,
            Dulobova,I.E., Petrukhin,K.E. et al.
  TITLE     The family of human Na+,K+-ATPase genes. No less than five genes
            and/or pseudogenes related to the alpha-subunit
  JOURNAL   FEBS Lett 217 (2), 275-278 (1987)
   PUBMED   3036582
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK058032.1, AL832971.1 and
            AC002389.1.
            
            On May 17, 2019 this sequence version replaced NM_000704.2.
            
            Summary: The protein encoded by this gene belongs to a family of
            P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a
            heterodimer consisting of a high molecular weight catalytic alpha
            subunit and a smaller but heavily glycosylated beta subunit. This
            enzyme is a proton pump that catalyzes the hydrolysis of ATP
            coupled with the exchange of H(+) and K(+) ions across the plasma
            membrane. It is also responsible for gastric acid secretion. This
            gene encodes a catalytic alpha subunit of the gastric H+,
            K+-ATPase. [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 :: GQ891529.1, AK223259.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157511 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262623.4/ ENSP00000262623.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-498               AK058032.1         1-498
            499-822             AL832971.1         377-700
            823-1727            AK058032.1         823-1727
            1728-2465           AL832971.1         1606-2343
            2466-3036           AK058032.1         2466-3036
            3037-3558           AL832971.1         2914-3435
            3559-3559           AL832971.1         3590-3590
            3560-3721           AC002389.1         39556-39717         c
FEATURES             Location/Qualifiers
     source          1..3721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..3721
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="ATPase H+/K+ transporting subunit alpha"
                     /db_xref="GeneID:495"
                     /db_xref="HGNC:HGNC:819"
                     /db_xref="MIM:137216"
     exon            1..41
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..3137
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /EC_number="7.2.2.19"
                     /note="ATPase, H+/K+ exchanging, alpha polypeptide;
                     gastric hydrogen-potassium ATPase; proton pump; gastric
                     H+/K+ ATPase alpha subunit; gastric H,K-ATPase catalytic
                     subunit; ATPase, H+/K+ transporting, alpha polypeptide;
                     ATPase H+/K+ transporting alpha subunit; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="potassium-transporting ATPase alpha chain 1"
                     /protein_id="NP_000695.2"
                     /db_xref="CCDS:CCDS12467.1"
                     /db_xref="GeneID:495"
                     /db_xref="HGNC:HGNC:819"
                     /db_xref="MIM:137216"
                     /translation="MGKAENYELYSVELGPGPGGDMAAKMSKKKKAGGGGGKRKEKLE
                     NMKKEMEINDHQLSVAELEQKYQTSATKGLSASLAAELLLRDGPNALRPPRGTPEYVK
                     FARQLAGGLQCLMWVAAAICLIAFAIQASEGDLTTDDNLYLAIALIAVVVVTGCFGYY
                     QEFKSTNIIASFKNLVPQQATVIRDGDKFQINADQLVVGDLVEMKGGDRVPADIRILA
                     AQGCKVDNSSLTGESEPQTRSPECTHESPLETRNIAFFSTMCLEGTVQGLVVNTGDRT
                     IIGRIASLASGVENEKTPIAIEIEHFVDIIAGLAILFGATFFIVAMCIGYTFLRAMVF
                     FMAIVVAYVPEGLLATVTVCLSLTAKRLASKNCVVKNLEAVETLGSTSVICSDKTGTL
                     TQNRMTVSHLWFDNHIHTADTTEDQSGQTFDQSSETWRALCRVLTLCNRAAFKSGQDA
                     VPVPKRIVIGDASETALLKFSELTLGNAMGYRDRFPKVCEIPFNSTNKFQLSIHTLED
                     PRDPRHLLVMKGAPERVLERCSSILIKGQELPLDEQWREAFQTAYLSLGGLGERVLGF
                     CQLYLNEKDYPPGYAFDVEAMNFPSSGLCFAGLVSMIDPPRATVPDAVLKCRTAGIRV
                     IMVTGDHPITAKAIAASVGIISEGSETVEDIAARLRVPVDQVNRKDARACVINGMQLK
                     DMDPSELVEALRTHPEMVFARTSPQQKLVIVESCQRLGAIVAVTGDGVNDSPALKKAD
                     IGVAMGIAGSDAAKNAADMILLDDNFASIVTGVEQGRLIFDNLKKSIAYTLTKNIPEL
                     TPYLIYITVSVPLPLGCITILFIELCTDIFPSVSLAYEKAESDIMHLRPRNPKRDRLV
                     NEPLAAYSYFQIGAIQSFAGFTDYFTAMAQEGWFPLLCVGLRAQWEDHHLQDLQDSYG
                     QEWTFGQRLYQQYTCYTVFFISIEVCQIADVLIRKTRRLSAFQQGFFRNKILVIAIVF
                     QVCIGCFLCYCPGMPNIFNFMPIRFQWWLVPLPYGILIFVYDEIRKLGVRCCPGSWWD
                     QELYY"
     exon            42..185
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            186..245
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            246..449
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            450..563
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            564..816
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            817..1085
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1284
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1394
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1529
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1722
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            1723..1898
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..2035
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            2036..2186
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            2187..2355
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            2356..2510
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            2511..2634
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            2635..2780
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            2781..2914
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            2915..3016
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            3017..3108
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     exon            3109..3721
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3529..3534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="hexamer: AATAAA"
     polyA_site      3559
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="major polyA site"
     regulatory      3692..3697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="hexamer: AATAAA"
     polyA_site      3721
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
ORIGIN      
        1 gttgggtggg agcacaggca ccgggcacca tggggaaggc cgagaactat gagctctact
       61 cggtggagct gggtcctggc cctggcgggg acatggctgc caagatgagc aagaagaaga
      121 aggcgggtgg cgggggtggc aagaggaagg agaagctgga gaacatgaag aaggagatgg
      181 agattaacga ccaccagctg tcagtggcgg agctggaaca gaaataccag accagtgcca
      241 ccaagggcct ctctgcgagc ctggctgctg agctgctgct gcgggatggg cccaacgcac
      301 tgcggccacc acggggcacc ccagagtacg tcaagttcgc gaggcagctg gccgggggcc
      361 tgcagtgcct catgtgggtt gccgccgcca tctgcctcat cgcctttgcc atccaggcta
      421 gtgaggggga cctcaccacc gacgacaatc tgtacctggc aatcgctctc attgctgtgg
      481 ttgtcgtcac cggctgcttt ggctactacc aggaattcaa gagcaccaac atcatcgcca
      541 gctttaagaa ccttgtgcca cagcaagcca ctgtcatccg cgatggagac aaattccaga
      601 tcaacgctga ccaactggtg gtgggcgacc tggtggagat gaaaggtggg gacagagtgc
      661 ccgccgacat ccgcatcctg gcggcccagg gctgcaaggt ggacaactcc tcgctgacag
      721 gggagtctga gccacagacc cgctcacccg agtgcacgca cgagagccct ctggagaccc
      781 gcaacatcgc cttcttctcc accatgtgcc ttgagggcac cgtgcagggc ctggtggtga
      841 acacgggcga ccgcaccatc attgggcgca tcgcatcgct ggcgtcgggg gtggaaaacg
      901 agaagacacc catcgctatc gagatcgagc attttgtgga catcatcgcg ggcctggcca
      961 ttctcttcgg tgccacattt tttattgtgg ccatgtgcat tggctacacc ttcctgcggg
     1021 ccatggtctt cttcatggcc atcgtggtgg cctatgtgcc tgaggggctg ctggccactg
     1081 tcacagtctg cctgtccctg acagccaagc gcctggccag taagaactgc gtggtcaaga
     1141 acctggaggc ggtggagaca ttgggctcca cttcggtgat ctgctcggac aagacaggga
     1201 ctctcactca gaaccgcatg actgtgtccc atctgtggtt tgacaaccac atccacacag
     1261 ctgacaccac ggaagaccag tcagggcaga cgtttgacca gtcctcggag acgtggcggg
     1321 cgctgtgccg ggtgctcacc ctgtgcaacc gcgccgcctt caagtccggc caggatgcag
     1381 tgcctgtgcc caagcgcatc gtgattggag acgcatcgga gacggcgctg ctcaagttct
     1441 cggagctgac gctgggcaac gccatgggct accgggaccg cttcccaaaa gtctgcgaga
     1501 tacccttcaa ctccaccaac aagttccagc tgtccatcca tacgctggag gacccgcggg
     1561 acccgcgaca cttgctggtg atgaagggcg cccccgagcg cgtgctggag cgctgcagct
     1621 ccatccttat caagggccag gagctgccgc tggacgagca gtggcgcgag gccttccaga
     1681 ccgcctacct cagcctggga ggcctgggcg aacgcgtgct cggcttctgc cagctctacc
     1741 tgaatgagaa ggactacccg cctggctatg ccttcgacgt agaggccatg aactttccat
     1801 ctagcggcct ctgctttgcg ggacttgtat ccatgattga cccaccccgg gccaccgtcc
     1861 ctgatgctgt gctcaagtgt cgcaccgcag gcatccgggt gatcatggta acgggtgacc
     1921 accccatcac cgccaaggcc attgcagcca gtgtgggcat catctcggaa ggcagcgaga
     1981 cagtggagga catcgctgcc cgcctccgtg tgcccgtaga ccaggttaat cgcaaggatg
     2041 cccgtgcctg tgtgatcaat ggcatgcagc tgaaggacat ggacccatcg gaactggtcg
     2101 aggccctgcg cacccacccc gagatggtgt ttgcgcgcac cagcccccag cagaagctgg
     2161 tgatcgtgga gagctgccag cggctgggtg cgattgtggc cgtcacgggg gatggtgtga
     2221 atgactcccc agctctgaag aaggcagaca tcggagtagc catgggcatc gctggctcag
     2281 atgctgccaa aaatgcagct gacatgatcc tgctggatga caactttgcc tccattgtga
     2341 caggcgtgga gcagggtcga ctgatcttcg acaacctgaa gaagtctatt gcctacacat
     2401 tgaccaagaa catcccagag ctgacaccct acctcatcta catcaccgtc agcgtgcccc
     2461 tgcccctcgg gtgcatcacc atcctcttca tcgaactctg cactgacatt ttcccatctg
     2521 tgtccctggc atatgaaaag gccgagagtg acatcatgca cctgcgtcca cgcaacccaa
     2581 agcgtgacag attggtcaac gagcccctgg ctgcctactc ctacttccag attggtgcca
     2641 ttcagtcctt tgctggcttc actgactact tcacggcaat ggcccaggag ggctggttcc
     2701 cactgctgtg cgtggggctg cgggcgcagt gggaggacca ccacctacaa gatctgcagg
     2761 acagctacgg ccaggagtgg acattcgggc agcgcctgta ccagcagtac acctgctaca
     2821 ccgtgttctt catcagcatt gaggtgtgcc agatcgccga tgtcctcatc cgcaagacgc
     2881 gccgtctctc tgccttccag caaggcttct tcaggaataa gatcctggtg atcgccatcg
     2941 tgttccaggt ctgcatcggc tgcttcctgt gctactgccc cggcatgccc aacatcttca
     3001 acttcatgcc cattcggttc cagtggtggc tggtccccct gccctacggc atcctcatct
     3061 tcgtctatga tgagatccgg aagcttggag ttcgctgttg cccagggagc tggtgggacc
     3121 aggaactcta ctattagagg gacgactgcc ttcaagcatc cctgcaactg ccacagcagg
     3181 tgggggcagg gctcgtggga ccctctggac agccaccaag atatctgagc aaccaagagt
     3241 cccagcccca ccagtatctg cttctgtagc ccacggcacc ccaaacttgg agggacctgc
     3301 ccactcccct cccccattcc caaggttcgc acctcctgga gcagcagcgc ctgggcagtc
     3361 ctctgggctg gcctcgggaa agccgccacc tgtggtggcg gtggggctct gacagggagt
     3421 acagctgacc gcttctggag ggtgtttctg ttcttaggac tccagtccag gctggacggc
     3481 tgcctgaggg cccttcgtta aagacacgct tgtgtcctgg gcgatggtaa taaaaccagc
     3541 tcatgctgac tgtgctgtat ctggtgccag gcactgtcct cagcgtctct cattagtgct
     3601 tgtgatctcc cacagtcctg tacatggggg ctgtttatcc agggctgcac ctccagtgcc
     3661 tagtacacag cctggcacat agtaggtcct caataaacct gccttgggga aatgattcct
     3721 a
//
