LOCUS       NM_000701               3670 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ATPase Na+/K+ transporting subunit alpha 1 (ATP1A1),
            transcript variant 1, mRNA.
ACCESSION   NM_000701
VERSION     NM_000701.8
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 3670)
  AUTHORS   Cerella,C., Gajulapalli,S.R., Lorant,A., Gerard,D., Muller,F.,
            Lee,Y., Kim,K.R., Han,B.W., Christov,C., Recher,C., Sarry,J.E.,
            Dicato,M. and Diederich,M.
  TITLE     ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic
            acute myeloid leukemia to cardiac glycosides
  JOURNAL   Leukemia 38 (1), 67-81 (2024)
   PUBMED   37904054
  REMARK    GeneRIF: ATP1A1/BCL2L1 predicts the response of myelomonocytic and
            monocytic acute myeloid leukemia to cardiac glycosides.
REFERENCE   2  (bases 1 to 3670)
  AUTHORS   Spontarelli,K., Young,V.C., Sweazey,R., Padro,A., Lee,J., Bueso,T.,
            Hernandez,R.M., Kim,J., Katz,A., Rossignol,F., Turner,C.,
            Wilczewski,C.M., Maxwell,G.L., Holmgren,M., Bailoo,J.D., Yano,S.T.
            and Artigas,P.
  TITLE     ATP1A1-linked diseases require a malfunctioning protein product
            from one allele
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (1), 119572 (2024)
   PUBMED   37659504
  REMARK    GeneRIF: ATP1A1-linked diseases require a malfunctioning protein
            product from one allele.
REFERENCE   3  (bases 1 to 3670)
  AUTHORS   Silkuniene,G., Mangalanathan,U.M., Pakhomov,A.G. and Pakhomova,O.N.
  TITLE     Silencing of ATP1A1 attenuates cell membrane disruption by
            nanosecond electric pulses
  JOURNAL   Biochem Biophys Res Commun 677, 93-97 (2023)
   PUBMED   37566922
  REMARK    GeneRIF: Silencing of ATP1A1 attenuates cell membrane disruption by
            nanosecond electric pulses.
REFERENCE   4  (bases 1 to 3670)
  AUTHORS   Sumiyoshi,S., Shiozaki,A., Kosuga,T., Simizu,H., Kudo,M.,
            Kiuchi,J., Arita,T., Konishi,H., Komatsu,S., Kuriu,Y., Kubota,T.,
            Fujiwara,H., Morinaga,Y., Konishi,E. and Otsuji,E.
  TITLE     Functional Analysis and Clinical Importance of ATP1A1 in Colon
            Cancer
  JOURNAL   Ann Surg Oncol 30 (11), 6898-6910 (2023)
   PUBMED   37407874
  REMARK    GeneRIF: Functional Analysis and Clinical Importance of ATP1A1 in
            Colon Cancer.
REFERENCE   5  (bases 1 to 3670)
  AUTHORS   Rajan,P.K., Udoh,U.S., Nakafuku,Y., Pierre,S.V. and Sanabria,J.
  TITLE     Normalization of the ATP1A1 Signalosome Rescinds Epigenetic
            Modifications and Induces Cell Autophagy in Hepatocellular
            Carcinoma
  JOURNAL   Cells 12 (19), 2367 (2023)
   PUBMED   37830582
  REMARK    GeneRIF: Normalization of the ATP1A1 Signalosome Rescinds
            Epigenetic Modifications and Induces Cell Autophagy in
            Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3670)
  AUTHORS   Shull,M.M., Pugh,D.G. and Lingrel,J.B.
  TITLE     The human Na, K-ATPase alpha 1 gene: characterization of the
            5'-flanking region and identification of a restriction fragment
            length polymorphism
  JOURNAL   Genomics 6 (3), 451-460 (1990)
   PUBMED   1970326
REFERENCE   7  (bases 1 to 3670)
  AUTHORS   Lingrel,J.B., Orlowski,J., Shull,M.M. and Price,E.M.
  TITLE     Molecular genetics of Na,K-ATPase
  JOURNAL   Prog Nucleic Acid Res Mol Biol 38, 37-89 (1990)
   PUBMED   2158121
  REMARK    Review article
REFERENCE   8  (bases 1 to 3670)
  AUTHORS   Yang-Feng,T.L., Schneider,J.W., Lindgren,V., Shull,M.M., Benz,E.J.
            Jr., Lingrel,J.B. and Francke,U.
  TITLE     Chromosomal localization of human Na+, K+-ATPase alpha- and
            beta-subunit genes
  JOURNAL   Genomics 2 (2), 128-138 (1988)
   PUBMED   2842249
REFERENCE   9  (bases 1 to 3670)
  AUTHORS   Sverdlov,E.D., Broude,N.E., Sverdlov,V.E., Monastyrskaya,G.S.,
            Grishin,A.V., Petrukhin,K.E., Akopyanz,N.S., Modyanov,N.N. and
            Ovchinnikov,Yu.A.
  TITLE     Family of Na+,K+-ATPase genes. Intra-individual tissue-specific
            restriction fragment length polymorphism
  JOURNAL   FEBS Lett 221 (1), 129-133 (1987)
   PUBMED   2887455
  REMARK    Erratum:[FEBS Lett 1988 Jan 18;227(1):85]
REFERENCE   10 (bases 1 to 3670)
  AUTHORS   Kawakami,K., Ohta,T., Nojima,H. and Nagano,K.
  TITLE     Primary structure of the alpha-subunit of human Na,K-ATPase deduced
            from cDNA sequence
  JOURNAL   J Biochem 100 (2), 389-397 (1986)
   PUBMED   2430951
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC335233.1 and BC050359.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000701.7.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type cation transport ATPases, and to the subfamily of Na+/K+
            -ATPases. Na+/K+ -ATPase is an integral membrane protein
            responsible for establishing and maintaining the electrochemical
            gradients of Na and K ions across the plasma membrane. These
            gradients are essential for osmoregulation, for sodium-coupled
            transport of a variety of organic and inorganic molecules, and for
            electrical excitability of nerve and muscle. This enzyme is
            composed of two subunits, a large catalytic subunit (alpha) and a
            smaller glycoprotein subunit (beta). The catalytic subunit of
            Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an
            alpha 1 subunit. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2009].
            
            Transcript Variant: This variant (1) represents use of an alternate
            promoter and 5' exon, compared to variant 3. The resulting isoform
            (a) is the same length but has a distinct N-terminus, compared to
            isoform c.
            
            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 :: BC050359.1, SRR11853565.1514.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295598.10/ ENSP00000295598.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-191               DC335233.1         72-262
            192-3670            BC050359.1         174-3652
FEATURES             Location/Qualifiers
     source          1..3670
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     gene            1..3670
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="ATPase Na+/K+ transporting subunit alpha 1"
                     /db_xref="GeneID:476"
                     /db_xref="HGNC:HGNC:799"
                     /db_xref="MIM:182310"
     exon            1..280
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             269..3340
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /EC_number="7.2.2.13"
                     /note="isoform a is encoded by transcript variant 1; Na,
                     K-ATPase, alpha-A catalytic polypeptide; Na+/K+ ATPase 1;
                     sodium-potassium-ATPase, alpha 1 polypeptide;
                     sodium/potassium-transporting ATPase subunit alpha-1;
                     Na,K-ATPase alpha-1 subunit; Na,K-ATPase catalytic subunit
                     alpha-A protein; sodium pump subunit alpha-1; Na(+)/K(+)
                     ATPase alpha-1 subunit; sodium-potassium ATPase catalytic
                     subunit alpha-1; ATPase, Na+/K+ transporting, alpha 1
                     polypeptide"
                     /codon_start=1
                     /product="sodium/potassium-transporting ATPase subunit
                     alpha-1 isoform a"
                     /protein_id="NP_000692.2"
                     /db_xref="CCDS:CCDS887.1"
                     /db_xref="GeneID:476"
                     /db_xref="HGNC:HGNC:799"
                     /db_xref="MIM:182310"
                     /translation="MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDH
                     KLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSM
                     LLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMES
                     FKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSL
                     TGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASG
                     LEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPE
                     GLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMW
                     FDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGD
                     ASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMK
                     GAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFP
                     EGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITA
                     KAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDIL
                     KYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSD
                     VSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANI
                     PLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQ
                     IGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIV
                     EFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCP
                     GMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY"
     exon            281..391
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            392..451
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            452..655
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            656..769
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            770..904
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1022
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1291
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1490
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1600
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..1735
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1736..1928
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2104
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2241
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..2392
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2393..2561
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2562..2716
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2717..2840
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2841..2986
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2987..3117
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            3118..3219
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            3220..3311
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     exon            3312..3670
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3646..3651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="hexamer: AATAAA"
     polyA_site      3670
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="major polyA site"
ORIGIN      
        1 ggagctgcgg cggggtctgg ggcgcagagc agcggcggga ggaggcggac acgtggcaac
       61 agcggtagca gcccgggcgg cggcagcaac agcggcggcg gcatcggccc gagccgccgg
      121 ccgccctccc accctcccgc cccgcggcag ccctagctcc ctccacttgg ctcccctggt
      181 cccgctcgct cggccgggag ctgctctgtg cttttctctc tgattctcca gcgacaggac
      241 ccggcgccgg gcactgagca ccgccaccat ggggaagggg gttggacgtg ataagtatga
      301 gcctgcagct gtttcagaac aaggtgataa aaagggcaaa aagggcaaaa aagacaggga
      361 catggatgaa ctgaagaaag aagtttctat ggatgatcat aaacttagcc ttgatgaact
      421 tcatcgtaaa tatggaacag acttgagccg gggattaaca tctgctcgtg cagctgagat
      481 cctggcgcga gatggtccca acgccctcac tccccctccc actactcctg aatggatcaa
      541 gttttgtcgg cagctctttg gggggttctc aatgttactg tggattggag cgattctttg
      601 tttcttggct tatagcatcc aagctgctac agaagaggaa cctcaaaacg ataatctgta
      661 cctgggtgtg gtgctatcag ccgttgtaat cataactggt tgcttctcct actatcaaga
      721 agctaaaagt tcaaagatca tggaatcctt caaaaacatg gtccctcagc aagcccttgt
      781 gattcgaaat ggtgagaaaa tgagcataaa tgcggaggaa gttgtggttg gggatctggt
      841 ggaagtaaaa ggaggagacc gaattcctgc tgacctcaga atcatatctg caaatggctg
      901 caaggtggat aactcctcgc tcactggtga atcagaaccc cagactaggt ctccagattt
      961 cacaaatgaa aaccccctgg agacgaggaa cattgccttc ttttcaacca attgtgttga
     1021 aggcaccgca cgtggtattg ttgtctacac tggggatcgc actgtgatgg gaagaattgc
     1081 cacacttgct tctgggctgg aaggaggcca gacccccatt gctgcagaaa ttgaacattt
     1141 tatccacatc atcacgggtg tggctgtgtt cctgggtgtg tctttcttca tcctttctct
     1201 catccttgag tacacctggc ttgaggctgt catcttcctc atcggtatca tcgtagccaa
     1261 tgtgccggaa ggtttgctgg ccactgtcac ggtctgtctg acacttactg ccaaacgcat
     1321 ggcaaggaaa aactgcttag tgaagaactt agaagctgtg gagaccttgg ggtccacgtc
     1381 caccatctgc tctgataaaa ctggaactct gactcagaac cggatgacag tggcccacat
     1441 gtggtttgac aatcaaatcc atgaagctga tacgacagag aatcagagtg gtgtctcttt
     1501 tgacaagact tcagctacct ggcttgctct gtccagaatt gcaggtcttt gtaacagggc
     1561 agtgtttcag gctaaccagg aaaacctacc tattcttaag cgggcagttg caggagatgc
     1621 ctctgagtca gcactcttaa agtgcataga gctgtgctgt ggttccgtga aggagatgag
     1681 agaaagatac gccaaaatcg tcgagatacc cttcaactcc accaacaagt accagttgtc
     1741 tattcataag aaccccaaca catcggagcc ccaacacctg ttggtgatga agggcgcccc
     1801 agaaaggatc ctagaccgtt gcagctctat cctcctccac ggcaaggagc agcccctgga
     1861 tgaggagctg aaagacgcct ttcagaacgc ctatttggag ctggggggcc tcggagaacg
     1921 agtcctaggt ttctgccacc tctttctgcc agatgaacag tttcctgaag ggttccagtt
     1981 tgacactgac gatgtgaatt tccctatcga taatctgtgc tttgttgggc tcatctccat
     2041 gattgaccct ccacgggcgg ccgttcctga tgccgtgggc aaatgtcgaa gtgctggaat
     2101 taaggtcatc atggtcacag gagaccatcc aatcacagct aaagctattg ccaaaggtgt
     2161 gggcatcatc tcagaaggca atgagaccgt ggaagacatt gctgcccgcc tcaacatccc
     2221 agtcagccag gtgaacccca gggatgccaa ggcctgcgta gtacacggca gtgatctaaa
     2281 ggacatgacc tccgagcagc tggatgacat tttgaagtac cacactgaga tagtgtttgc
     2341 caggacctcc cctcagcaga agctcatcat tgtggaaggc tgccaaagac agggtgctat
     2401 cgtggctgtg actggtgacg gtgtgaatga ctctccagct ttgaagaaag cagacattgg
     2461 ggttgctatg gggattgctg gctcagatgt gtccaagcaa gctgctgaca tgattcttct
     2521 ggatgacaac tttgcctcaa ttgtgactgg agtagaggaa ggtcgtctga tctttgataa
     2581 cttgaagaaa tccattgctt ataccttaac cagtaacatt cccgagatca ccccgttcct
     2641 gatatttatt attgcaaaca ttccactacc actggggact gtcaccatcc tctgcattga
     2701 cttgggcact gacatggttc ctgccatctc cctggcttat gagcaggctg agagtgacat
     2761 catgaagaga cagcccagaa atcccaaaac agacaaactt gtgaatgagc ggctgatcag
     2821 catggcctat gggcagattg gaatgatcca ggccctggga ggcttcttta cttactttgt
     2881 gattctggct gagaacggct tcctcccaat tcacctgttg ggcctccgag tggactggga
     2941 tgaccgctgg atcaacgatg tggaagacag ctacgggcag cagtggacct atgagcagag
     3001 gaaaatcgtg gagttcacct gccacacagc cttcttcgtc agtatcgtgg tggtgcagtg
     3061 ggccgacttg gtcatctgta agaccaggag gaattcggtc ttccagcagg ggatgaagaa
     3121 caagatcttg atatttggcc tctttgaaga gacagccctg gctgctttcc tttcctactg
     3181 ccctggaatg ggtgttgctc ttaggatgta tcccctcaaa cctacctggt ggttctgtgc
     3241 cttcccctac tctcttctca tcttcgtata tgacgaagtc agaaaactca tcatcaggcg
     3301 acgccctggc ggctgggtgg agaaggaaac ctactattag ccccccgtcc tgcacgccgt
     3361 ggagcatcag gccacacact ctgcatccga cacccacccc ctctttgtgt acttcagtct
     3421 tggagtttgg aactctaccc tggtaggaaa gcaccgcagc atgtggggaa gcaagacgtc
     3481 ctggaatgaa gcatgtagct ctatgggggg aggggggagg gctgcctgaa aaccatccat
     3541 ctgtggaaat gacagcgggg aaggttttta tgtgcctttt tgtttttgta aaaaaggaac
     3601 acccggaaag actgaaagaa tacattttat atctggattt ttacaaataa agatggctat
     3661 tataatggaa
//
