LOCUS       NM_144699               3809 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ATPase Na+/K+ transporting subunit alpha 4 (ATP1A4),
            transcript variant 1, mRNA.
ACCESSION   NM_144699 XM_086379
VERSION     NM_144699.4
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 3809)
  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   2  (bases 1 to 3809)
  AUTHORS   Sweeney,M.D., Zhao,Z., Montagne,A., Nelson,A.R. and Zlokovic,B.V.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   3  (bases 1 to 3809)
  AUTHORS   Laird,J.G., Pan,Y., Modestou,M., Yamaguchi,D.M., Song,H.,
            Sokolov,M. and Baker,S.A.
  TITLE     Identification of a VxP Targeting Signal in the Flagellar Na+ /K+
            -ATPase
  JOURNAL   Traffic 16 (12), 1239-1253 (2015)
   PUBMED   26373354
REFERENCE   4  (bases 1 to 3809)
  AUTHORS   McDermott,J., Sanchez,G., Nangia,A.K. and Blanco,G.
  TITLE     Role of human Na,K-ATPase alpha 4 in sperm function, derived from
            studies in transgenic mice
  JOURNAL   Mol Reprod Dev 82 (3), 167-181 (2015)
   PUBMED   25640246
  REMARK    GeneRIF: Human ATP1A4 enhances mouse sperm motility and
            hyperactivity during capacitation.
REFERENCE   5  (bases 1 to 3809)
  AUTHORS   Rodova,M., Nguyen,A.N. and Blanco,G.
  TITLE     The transcription factor CREMtau and cAMP regulate promoter
            activity of the Na,K-ATPase alpha4 isoform
  JOURNAL   Mol Reprod Dev 73 (11), 1435-1447 (2006)
   PUBMED   16894555
  REMARK    GeneRIF: These results constitute the first demonstration of the
            transcriptional control of ATP1A4 gene expression by cAMP and by
            CREMtau, a transcription factor essential for male germ cell gene
            expression.
REFERENCE   6  (bases 1 to 3809)
  AUTHORS   Shamraj,O.I. and Lingrel,J.B.
  TITLE     A putative fourth Na+,K(+)-ATPase alpha-subunit gene is expressed
            in testis
  JOURNAL   Proc Natl Acad Sci U S A 91 (26), 12952-12956 (1994)
   PUBMED   7809153
REFERENCE   7  (bases 1 to 3809)
  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 3809)
  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   9  (bases 1 to 3809)
  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
REFERENCE   10 (bases 1 to 3809)
  AUTHORS   Shull,M.M. and Lingrel,J.B.
  TITLE     Multiple genes encode the human Na+,K+-ATPase catalytic subunit
  JOURNAL   Proc Natl Acad Sci U S A 84 (12), 4039-4043 (1987)
   PUBMED   3035563
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB094047.1, BC094801.1,
            BC036052.1, BX647234.1, AL121987.34 and BC028297.1.
            
            On Aug 31, 2019 this sequence version replaced NM_144699.3.
            
            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 4 subunit. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and encodes the longer 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 :: BX647234.1, AF506797.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368081.9/ ENSP00000357060.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-354               DB094047.1         42-395
            355-1475            BC094801.1         347-1467
            1476-1517           BC036052.1         1494-1535
            1518-1936           BX647234.1         1533-1951
            1937-2119           AL121987.34        126031-126213
            2120-3573           BC094801.1         2112-3565
            3574-3806           BC028297.1         654-886
            3807-3809           AL121987.34        141751-141753
FEATURES             Location/Qualifiers
     source          1..3809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..3809
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /note="ATPase Na+/K+ transporting subunit alpha 4"
                     /db_xref="GeneID:480"
                     /db_xref="HGNC:HGNC:14073"
                     /db_xref="MIM:607321"
     exon            1..585
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             439..3528
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /EC_number="7.2.2.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ATPase, Na+/K+ transporting, alpha polypeptide-like 2;
                     sodium/potassium-transporting ATPase alpha-4 chain; sodium
                     pump 4; Na+/K+ ATPase 4; Na+/K+ ATPase, alpha-D
                     polypeptide; sodium/potassium-transporting ATPase subunit
                     alpha-4; Na,K-ATPase subunit alpha-C; sodium pump subunit
                     alpha-4; ATPase, Na+/K+ transporting, alpha 4 polypeptide;
                     Na(+)/K(+) ATPase alpha-4 subunit; sodium-potassium ATPase
                     catalytic subunit alpha-4"
                     /codon_start=1
                     /product="sodium/potassium-transporting ATPase subunit
                     alpha-4 isoform 1"
                     /protein_id="NP_653300.2"
                     /db_xref="CCDS:CCDS1197.1"
                     /db_xref="GeneID:480"
                     /db_xref="HGNC:HGNC:14073"
                     /db_xref="MIM:607321"
                     /translation="MGLWGKKGTVAPHDQSPRRRPKKGLIKKKMVKREKQKRNMEELK
                     KEVVMDDHKLTLEELSTKYSVDLTKGHSHQRAKEILTRGGPNTVTPPPTTPEWVKFCK
                     QLFGGFSLLLWTGAILCFVAYSIQIYFNEEPTKDNLYLSIVLSVVVIVTGCFSYYQEA
                     KSSKIMESFKNMVPQQALVIRGGEKMQINVQEVVLGDLVEIKGGDRVPADLRLISAQG
                     CKVDNSSLTGESEPQSRSPDFTHENPLETRNICFFSTNCVEGTARGIVIATGDSTVMG
                     RIASLTSGLAVGQTPIAAEIEHFIHLITVVAVFLGVTFFALSLLLGYGWLEAIIFLIG
                     IIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQN
                     RMTVAHMWFDMTVYEADTTEEQTGKTFTKSSDTWFMLARIAGLCNRADFKANQEILPI
                     AKRATTGDASESALLKFIEQSYSSVAEMREKNPKVAEIPFNSTNKYQMSIHLREDSSQ
                     THVLMMKGAPERILEFCSTFLLNGQEYSMNDEMKEAFQNAYLELGGLGERVLGFCFLN
                     LPSSFSKGFPFNTDEINFPMDNLCFVGLISMIDPPRAAVPDAVSKCRSAGIKVIMVTG
                     DHPITAKAIAKGVGIISEGTETAEEVAARLKIPISKVDASAAKAIVVHGAELKDIQSK
                     QLDQILQNHPEIVFARTSPQQKLIIVEGCQRLGAVVAVTGDGVNDSPALKKADIGIAM
                     GISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIMYTLTSNIPEITPFLM
                     FIILGIPLPLGTITILCIDLGTDMVPAISLAYESAESDIMKRLPRNPKTDNLVNHRLI
                     GMAYGQIGMIQALAGFFTYFVILAENGFRPVDLLGIRLHWEDKYLNDLEDSYGQQWTY
                     EQRKVVEFTCQTAFFVTIVVVQWADLIISKTRRNSLFQQGMRNKVLIFGILEETLLAA
                     FLSYTPGMDVALRMYPLKITWWLCAIPYSILIFVYDEIRKLLIRQHPDGWVERETYY"
     exon            586..645
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            646..849
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            850..963
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1098
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1216
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1485
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1486..1684
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1794
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1795..1929
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1930..2119
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2120..2292
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2293..2429
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2430..2580
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2581..2749
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2750..2904
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2905..3028
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            3029..3174
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            3175..3305
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            3306..3407
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            3408..3499
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     exon            3500..3809
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3592..3597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /note="hexamer: ATTATA"
     polyA_site      3611
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /note="major polyA site"
     regulatory      3783..3788
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
                     /note="hexamer: AGTAAA"
     polyA_site      3809
                     /gene="ATP1A4"
                     /gene_synonym="ATP1A1; ATP1AL2"
ORIGIN      
        1 agatccttga agctcactcc gcctcctcac tctcactgca tttcccacct tcctgtgggc
       61 cttgcggcat cttcatcact gaggcacctg gttacgcttc acctcttgtt tcctgccctc
      121 actgcattcc ctcacctcta cctttttatc cttccaccct aggcttctct cctccctctt
      181 ccctcactcc tgactcttcc tcttcccagc ggacggctgg aggaccgctc agtctctcct
      241 ctctcacttc ccttcctctc tctcaccttc accacccaac acctccctcc ctgcctcttt
      301 ctttctgctc cctcattctc tccccaccac tctcttctcg tggccccctt gcccgcgcgc
      361 cctcttccct tccccttgcc tcactctctc agctttcttc ccacagttga gctcgggcag
      421 ctctttctgg ggatagctat ggggctttgg gggaagaaag ggacagtggc tccccatgac
      481 cagagtccaa gacgaagacc taaaaaaggg cttatcaaga aaaaaatggt gaagagggaa
      541 aaacagaagc gcaatatgga ggaactgaag aaggaagtgg tcatggatga tcacaaatta
      601 accttggaag agctgagcac caagtactcc gtggacctga caaagggcca tagccaccaa
      661 agggcaaagg aaatcctgac tcgaggtgga cccaatactg ttaccccacc ccccaccact
      721 ccagaatggg tcaaattctg taagcaactg ttcggaggct tctccctcct actatggact
      781 ggggccattc tctgctttgt ggcctacagc atccagatat atttcaatga ggagcctacc
      841 aaagacaacc tctacctgag catcgtactg tccgtcgtgg tcatcgtcac tggctgcttc
      901 tcctattatc aggaggccaa gagctccaag atcatggagt cttttaagaa catggtgcct
      961 cagcaagctc tggtaattcg aggaggagag aagatgcaaa ttaatgtaca agaggtggtg
     1021 ttgggagacc tggtggaaat caagggtgga gaccgagtcc ctgctgacct ccggcttatc
     1081 tctgcacaag gatgtaaggt ggacaactca tccttgactg gggagtcaga accccagagc
     1141 cgctcccctg acttcaccca tgagaaccct ctggagaccc gaaacatctg cttcttttcc
     1201 accaactgtg tggaaggaac cgcccggggt attgtgattg ctacgggaga ctccacagtg
     1261 atgggcagaa ttgcctccct gacgtcaggc ctggcggttg gccagacacc tatcgctgct
     1321 gagatcgaac acttcatcca tctgatcact gtggtggccg tcttccttgg tgtcactttt
     1381 tttgcgctct cacttctctt gggctatggt tggctggagg ctatcatttt tctcattggc
     1441 atcattgtgg ccaatgtgcc tgaggggctg ttggccacag tcactgtgtg cctgaccctc
     1501 acagccaagc gcatggcgcg gaagaactgc ctggtgaaga acctggaggc ggtggagacg
     1561 ctgggctcca cgtccaccat ctgctcagac aagacgggca ccctcaccca gaaccgcatg
     1621 accgtcgccc acatgtggtt tgatatgacc gtgtatgagg ccgacaccac tgaagaacag
     1681 actggaaaaa catttaccaa gagctctgat acctggttta tgctggcccg aatcgctggc
     1741 ctctgcaacc gggctgactt taaggctaat caggagatcc tgcccattgc taagagggcc
     1801 acaacaggtg atgcttccga gtcagccctc ctcaagttca tcgagcagtc ttacagctct
     1861 gtggcggaga tgagagagaa aaaccccaag gtggcagaga ttccctttaa ttctaccaac
     1921 aagtaccaga tgtccatcca ccttcgggag gacagctccc agacccacgt actgatgatg
     1981 aagggtgctc cggagaggat cttggagttt tgttctacct ttcttctgaa tgggcaggag
     2041 tactcaatga acgatgaaat gaaggaagcc ttccaaaatg cctacttaga actgggaggt
     2101 ctgggggaac gtgtgctagg cttctgcttc ttgaatctgc ctagcagctt ctccaaggga
     2161 ttcccattta atacagatga aataaatttc cccatggaca acctttgttt tgtgggcctc
     2221 atatccatga ttgaccctcc ccgagctgca gtgcctgatg ctgtgagcaa gtgtcgcagt
     2281 gcaggaatta aggtgatcat ggtaacagga gatcatccca ttacagctaa ggccattgcc
     2341 aagggtgtgg gcatcatctc agaaggcact gagacggcag aggaagtcgc tgcccggctt
     2401 aagatcccta tcagcaaggt cgatgccagt gctgccaaag ccattgtggt gcatggtgca
     2461 gaactgaagg acatacagtc caagcagctt gatcagatcc tccagaacca ccctgagatc
     2521 gtgtttgctc ggacctcccc tcagcagaag ctcatcattg tcgagggatg tcagaggctg
     2581 ggagccgttg tggccgtgac aggtgacggg gtgaacgact cccctgcgct gaagaaggct
     2641 gacattggca ttgccatggg catctctggc tctgacgtct ctaagcaggc agccgacatg
     2701 atcctgctgg atgacaactt tgcctccatc gtcacggggg tggaggaggg ccgcctgatc
     2761 tttgacaacc tgaagaaatc catcatgtac accctgacca gcaacatccc cgagatcacg
     2821 cccttcctga tgttcatcat cctcggtata cccctgcctc tgggaaccat aaccatcctc
     2881 tgcattgatc tcggcactga catggtccct gccatctcct tggcttatga gtcagctgaa
     2941 agcgacatca tgaagaggct tccaaggaac ccaaagacgg ataatctggt gaaccaccgt
     3001 ctcattggca tggcctatgg acagattggg atgatccagg ctctggctgg attctttacc
     3061 tactttgtaa tcctggctga gaatggtttt aggcctgttg atctgctggg catccgcctc
     3121 cactgggaag ataaatactt gaatgacctg gaggacagct acggacagca gtggacctat
     3181 gagcaacgaa aagttgtgga gttcacatgc caaacggcct tttttgtcac catcgtggtt
     3241 gtgcagtggg cggatctcat catctccaag actcgccgca actcactttt ccagcagggc
     3301 atgagaaaca aagtcttaat atttgggatc ctggaggaga cactcttggc tgcatttctg
     3361 tcctacactc caggcatgga cgtggccctg cgaatgtacc cactcaagat aacctggtgg
     3421 ctctgtgcca ttccctacag tattctcatc ttcgtctatg atgaaatcag aaaactcctc
     3481 atccgtcagc acccggatgg ctgggtggaa agggagacgt actactaaac tcagcagatg
     3541 aagagcttca tgtgacacag gggtgttgtg agagctggga tggggccaga gattataagt
     3601 ttgacacaac atctgagaca ctaggatgaa ttatcttgga tgagaaagat gggcaatcct
     3661 gggctggctt gagggaatca tgggcagagg atgaggtggg ctgaagggaa gcccagcctg
     3721 catctagctg gagccccgca gggaggggca tggtcctgct gaatcccgta gccagtctag
     3781 acagtaaatg tctggaaaag ccctcacca
//
