LOCUS       NM_152296               3551 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens ATPase Na+/K+ transporting subunit alpha 3 (ATP1A3),
            transcript variant 1, mRNA.
ACCESSION   NM_152296 NM_000703
VERSION     NM_152296.5
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 3551)
  AUTHORS   Depierre,P., Ginet,V., Truttmann,A.C. and Puyal,J.
  TITLE     Neuronal autosis is Na+/K+-ATPase alpha 3-dependent and involved in
            hypoxic-ischemic neuronal death
  JOURNAL   Cell Death Dis 15 (5), 363 (2024)
   PUBMED   38796484
  REMARK    GeneRIF: Neuronal autosis is Na[+]/K[+]-ATPase alpha 3-dependent
            and involved in hypoxic-ischemic neuronal death.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3551)
  AUTHORS   Muthaffar,O.Y., Alqarni,A., Shafei,J.A., Bahowarth,S.Y.,
            Alyazidi,A.S. and Naseer,M.I.
  TITLE     Childhood-related neural genotype-phenotype in ATP1A3 mutations:
            comprehensive analysis
  JOURNAL   Genes Genomics 46 (4), 475-487 (2024)
   PUBMED   38243045
  REMARK    GeneRIF: Childhood-related neural genotype-phenotype in ATP1A3
            mutations: comprehensive analysis.
REFERENCE   3  (bases 1 to 3551)
  AUTHORS   You,Y., Zhang,Z., Sultana,N., Ericsson,M., Martens,Y.A., Sun,M.,
            Kanekiyo,T., Ikezu,S., Shaffer,S.A. and Ikezu,T.
  TITLE     ATP1A3 as a target for isolating neuron-specific extracellular
            vesicles from human brain and biofluids
  JOURNAL   Sci Adv 9 (37), eadi3647 (2023)
   PUBMED   37713494
  REMARK    GeneRIF: ATP1A3 as a target for isolating neuron-specific
            extracellular vesicles from human brain and biofluids.
REFERENCE   4  (bases 1 to 3551)
  AUTHORS   Alyamani,S.A., Aldhalaan,H.M., Almuhaizea,M.A. and Abukhalid,M.F.
  TITLE     Expanding the Allelic spectrum in ATP1A3-related disorders with 3
            novel mutations and clinic features
  JOURNAL   Neurosciences (Riyadh) 28 (3), 195-198 (2023)
   PUBMED   37482377
  REMARK    GeneRIF: Expanding the Allelic spectrum in ATP1A3-related disorders
            with 3 novel mutations and clinic features.
REFERENCE   5  (bases 1 to 3551)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   6  (bases 1 to 3551)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   7  (bases 1 to 3551)
  AUTHORS   Brashear,A., Sweadner,K.J., Haq,I., Napoli,E. and Ozelius,L.
  TITLE     ATP1A3-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301294
REFERENCE   8  (bases 1 to 3551)
  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   9  (bases 1 to 3551)
  AUTHORS   Ovchinnikov,Yu.A., Monastyrskaya,G.S., Broude,N.E.,
            Ushkaryov,Yu.A., Melkov,A.M., Smirnov,Yu.V., Malyshev,I.V.,
            Allikmets,R.L., Kostina,M.B., Dulubova,I.E. et al.
  TITLE     Family of human Na+, K+-ATPase genes. Structure of the gene for the
            catalytic subunit (alpha III-form) and its relationship with
            structural features of the protein
  JOURNAL   FEBS Lett 233 (1), 87-94 (1988)
   PUBMED   2838329
REFERENCE   10 (bases 1 to 3551)
  AUTHORS   Sverdlov,E.D., Monastyrskaia,G.S., Broude,N.E., Ushkarev,Iu.A. and
            Melkov,A.M.
  TITLE     [The family of human Na+,K+-ATPase genes. Structure of the gene for
            isozyme alphaII]
  JOURNAL   Dokl Akad Nauk SSSR 297 (6), 1488-1494 (1987)
   PUBMED   2834163
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB482528.1, AK223569.1,
            AK295078.1 and BC009282.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 11, 2018 this sequence version replaced NM_152296.4.
            
            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 3 subunit. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jan 2012].
            
            Transcript Variant: This variant (1) is the predominant transcript
            and encodes 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 :: BC009394.2, AK223569.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648268.1/ ENSP00000498113.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DB482528.1         47-49
            4-3019              AK223569.1         1-3016
            3020-3409           AK295078.1         3059-3448
            3410-3551           BC009282.2         3372-3513
FEATURES             Location/Qualifiers
     source          1..3551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..3551
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /note="ATPase Na+/K+ transporting subunit alpha 3"
                     /db_xref="GeneID:478"
                     /db_xref="HGNC:HGNC:801"
                     /db_xref="MIM:182350"
     exon            1..160
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..3196
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /EC_number="7.2.2.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sodium-potassium-ATPase, alpha 3 polypeptide; Na+/K+
                     ATPase 3; sodium/potassium-transporting ATPase alpha-3
                     chain; sodium/potassium-transporting ATPase subunit
                     alpha-3; sodium pump subunit alpha-3; Na(+)/K(+) ATPase
                     alpha-3 subunit; Na(+)/K(+) ATPase alpha(III) subunit;
                     sodium-potassium ATPase catalytic subunit alpha-3; ATPase,
                     Na+/K+ transporting, alpha 3 polypeptide; Na+, K+
                     activated adenosine triphosphatase alpha subunit"
                     /codon_start=1
                     /product="sodium/potassium-transporting ATPase subunit
                     alpha-3 isoform 1"
                     /protein_id="NP_689509.1"
                     /db_xref="CCDS:CCDS12594.1"
                     /db_xref="GeneID:478"
                     /db_xref="HGNC:HGNC:801"
                     /db_xref="MIM:182350"
                     /translation="MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRK
                     YNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCF
                     LAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQAL
                     VIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRS
                     PDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAI
                     EIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCL
                     TLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADT
                     TEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCI
                     ELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRC
                     STILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDV
                     NFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGII
                     SEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFAR
                     TSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMIL
                     LDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITIL
                     CIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGF
                     FSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFV
                     SIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYP
                     LKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY"
     exon            161..247
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            248..307
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            308..511
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            512..625
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            626..760
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            761..878
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            879..1147
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1346
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1456
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1591
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            1592..1784
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1960
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2097
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            2098..2248
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2417
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            2418..2572
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            2573..2696
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            2697..2842
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            2843..2973
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            2974..3075
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            3076..3167
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     exon            3168..3551
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3529..3534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /note="hexamer: AATATA"
     polyA_site      3551
                     /gene="ATP1A3"
                     /gene_synonym="AHC2; ATP1A1; CAPOS; DEE99; DYT12; RDP"
                     /note="major polyA site"
ORIGIN      
        1 agcctctgtg cggtgggacc aacggacgga cggacggacg cgcgcaccta ccgaggcgcg
       61 ggcgctgcag aggctcccag cccaagcctg agcctgagcc cgccccgagg tccccgcccc
      121 gcccgcctgg ctctctcgcc gcggagccgc caagatgggg gacaagaaag atgacaagga
      181 ctcacccaag aagaacaagg gcaaggagcg ccgggacctg gatgacctca agaaggaggt
      241 ggctatgaca gagcacaaga tgtcagtgga agaggtctgc cggaaataca acacagactg
      301 tgtgcagggt ttgacccaca gcaaagccca ggagatcctg gcccgggatg ggcctaacgc
      361 actcacgcca ccgcctacca ccccagagtg ggtcaagttt tgccggcagc tcttcggggg
      421 cttctccatc ctgctgtgga tcggggctat cctctgcttc ctggcctacg gtatccaggc
      481 gggcaccgag gacgacccct ctggtgacaa cctgtacctg ggcatcgtgc tggcggccgt
      541 ggtgatcatc actggctgct tctcctacta ccaggaggcc aagagctcca agatcatgga
      601 gtccttcaag aacatggtgc cccagcaagc cctggtgatc cgggaaggtg agaagatgca
      661 ggtgaacgct gaggaggtgg tggtcgggga cctggtggag atcaagggtg gagaccgagt
      721 gccagctgac ctgcggatca tctcagccca cggctgcaag gtggacaact cctccctgac
      781 tggcgaatcc gagccccaga ctcgctctcc cgactgcact cacgacaacc ccttggagac
      841 tcggaacatc accttctttt ccaccaactg tgtggaaggc acggctcggg gcgtggtggt
      901 ggccacgggc gaccgcactg tcatgggccg tatcgccacc ctggcatcag ggctggaggt
      961 gggcaagacg cccatcgcca tcgagattga gcacttcatc cagctcatca ccggcgtggc
     1021 tgtcttcctg ggtgtctcct tcttcatcct ctccctcatt ctcggataca cctggcttga
     1081 ggctgtcatc ttcctcatcg gcatcatcgt ggccaatgtc ccagagggtc tgctggccac
     1141 tgtcactgtg tgtctgacgc tgaccgccaa gcgcatggcc cggaagaact gcctggtgaa
     1201 gaacctggag gctgtagaaa ccctgggctc cacgtccacc atctgctcag ataagacagg
     1261 gaccctcact cagaaccgca tgacagtcgc ccacatgtgg tttgacaacc agatccacga
     1321 ggctgacacc actgaggacc agtcagggac ctcatttgac aagagttcgc acacctgggt
     1381 ggccctgtct cacatcgctg ggctctgcaa tcgcgctgtc ttcaagggtg gtcaggacaa
     1441 catccctgtg ctcaagaggg atgtggctgg ggatgcgtct gagtctgccc tgctcaagtg
     1501 catcgagctg tcctctggct ccgtgaagct gatgcgtgaa cgcaacaaga aagtggctga
     1561 gattcccttc aattccacca acaaatacca gctctccatc catgagaccg aggaccccaa
     1621 cgacaaccga tacctgctgg tgatgaaggg tgcccccgag cgcatcctgg accgctgctc
     1681 caccatcctg ctacagggca aggagcagcc tctggacgag gaaatgaagg aggccttcca
     1741 gaatgcctac cttgagctcg gtggcctggg cgagcgcgtg cttggtttct gccattatta
     1801 cctgcccgag gagcagttcc ccaagggctt tgccttcgac tgtgatgacg tgaacttcac
     1861 cacggacaac ctctgctttg tgggcctcat gtccatgatc gacccacccc gggcagccgt
     1921 ccctgacgcg gtgggcaagt gtcgcagcgc aggcatcaag gtcatcatgg tcaccggcga
     1981 tcaccccatc acggccaagg ccattgccaa gggtgtgggc atcatctctg agggcaacga
     2041 gactgtggag gacatcgccg cccggctcaa cattcccgtc agccaggtta acccccggga
     2101 tgccaaggcc tgcgtgatcc acggcaccga cctcaaggac ttcacctccg agcaaatcga
     2161 cgagatcctg cagaatcaca ccgagatcgt cttcgcccgc acatcccccc agcagaagct
     2221 catcattgtg gagggctgtc agagacaggg tgcaattgtg gctgtgaccg gggatggtgt
     2281 gaacgactcc cccgctctga agaaggccga cattggggtg gccatgggca tcgctggctc
     2341 tgacgtctcc aagcaggcag ctgacatgat cctgctggac gacaactttg cctccatcgt
     2401 cacaggggtg gaggagggcc gcctgatctt cgacaaccta aagaagtcca ttgcctacac
     2461 cctgaccagc aatatcccgg agatcacgcc cttcctgctg ttcatcatgg ccaacatccc
     2521 gctgcccctg ggcaccatca ccatcctctg catcgatctg ggcactgaca tggtccctgc
     2581 catctcactg gcgtacgagg ctgccgaaag cgacatcatg aagagacagc ccaggaaccc
     2641 gcggacggac aaattggtca atgagagact catcagcatg gcctacgggc agattggaat
     2701 gatccaggct ctcggtggct tcttctctta ctttgtgatc ctggcagaaa atggcttctt
     2761 gcccggcaac ctggtgggca tccggctgaa ctgggatgac cgcaccgtca atgacctgga
     2821 agacagttac gggcagcagt ggacatacga gcagaggaag gtggtggagt tcacctgcca
     2881 cacggccttc tttgtgagca tcgttgtcgt ccagtgggcc gatctgatca tctgcaagac
     2941 ccggaggaac tcggtcttcc agcagggcat gaagaacaag atcctgatct tcgggctgtt
     3001 tgaggagacg gccctggctg ccttcctgtc ctactgcccc ggcatggacg tggccctgcg
     3061 catgtaccct ctcaagccca gctggtggtt ctgtgccttc ccctacagtt tcctcatctt
     3121 cgtctacgac gaaatccgca aactcatcct gcgcaggaac ccagggggtt gggtggagaa
     3181 ggaaacctac tactgacctc agccccacca catcgcccat ctcttccccg tcccccaggc
     3241 ccaggaccgc ccctgtcagt ccccccaatt ttgtattctg gggggaggag ccctctcttc
     3301 ctgtggcccc accttggccc ccaccccctc cactatctcc tgccgccccc actctggctg
     3361 gcttctctcc cctgccccaa acctctctcc tctctctttt ctgtgtcagt ttctctccct
     3421 ctcctcaccc ctctatccat tcctcccgcc ccagccacct ccctgggctc ttttttactc
     3481 cccttcagcc ccccggctga tgccatctct ggttctggac aattatcaaa tatatcagtg
     3541 gggagagaga a
//
