LOCUS       NM_001142447            4757 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens ATPase Na+/K+ transporting family member beta 4
            (ATP1B4), transcript variant 1, mRNA.
ACCESSION   NM_001142447
VERSION     NM_001142447.3
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 4757)
  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 4757)
  AUTHORS   Gao,K., Song,Z., Liang,H., Zheng,W., Deng,X., Yuan,Y., Zhao,Y. and
            Deng,H.
  TITLE     Genetic analysis of the ATP1B4 gene in Chinese Han patients with
            Parkinson's disease
  JOURNAL   Mol Biol Rep 41 (4), 2307-2311 (2014)
   PUBMED   24420862
  REMARK    GeneRIF: variant in the coding region of the ATP1B4 gene may play
            little or no role in the development of PD in Chinese Han
            population.
REFERENCE   3  (bases 1 to 4757)
  AUTHORS   Pestov,N.B., Zhao,H., Basrur,V. and Modyanov,N.N.
  TITLE     Isolation and characterization of BetaM protein encoded by
            ATP1B4--a unique member of the Na,K-ATPase beta-subunit gene family
  JOURNAL   Biochem Biophys Res Commun 412 (4), 543-548 (2011)
   PUBMED   21855530
REFERENCE   4  (bases 1 to 4757)
  AUTHORS   Pestov,N.B., Ahmad,N., Korneenko,T.V., Zhao,H., Radkov,R.,
            Schaer,D., Roy,S., Bibert,S., Geering,K. and Modyanov,N.N.
  TITLE     Evolution of Na,K-ATPase beta m-subunit into a coregulator of
            transcription in placental mammals
  JOURNAL   Proc Natl Acad Sci U S A 104 (27), 11215-11220 (2007)
   PUBMED   17592128
REFERENCE   5  (bases 1 to 4757)
  AUTHORS   Kung,A.W., Lau,K.S., Cheung,W.M. and Chan,V.
  TITLE     Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium
            ATPase genes
  JOURNAL   Clin Endocrinol (Oxf) 64 (2), 158-161 (2006)
   PUBMED   16430714
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4757)
  AUTHORS   Pestov,N.B., Adams,G., Shakhparonov,M.I. and Modyanov,N.N.
  TITLE     Identification of a novel gene of the X,K-ATPase beta-subunit
            family that is predominantly expressed in skeletal and heart
            muscles
  JOURNAL   FEBS Lett 456 (2), 243-248 (1999)
   PUBMED   10456317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK309999.1, AF158383.2 and
            AC006962.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001142447.2.
            
            Summary: This gene has been found in all vertebrate genomes
            sequenced to date. However, this gene has undergone a change in
            function in placental mammals compared to other species.
            Specifically, in fish, avian, and amphibian species, this gene
            encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In
            placental mammals, the encoded protein interacts with the nuclear
            transcriptional coregulator SKIP and may be involved in the
            regulation of TGF-beta signaling. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (A).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF158383.2, BC143404.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218008.8/ ENSP00000218008.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AK309999.1         5-27
            24-2582             AF158383.2         1-2559
            2583-4757           AC006962.2         19666-21840
FEATURES             Location/Qualifiers
     source          1..4757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..4757
                     /gene="ATP1B4"
                     /note="ATPase Na+/K+ transporting family member beta 4"
                     /db_xref="GeneID:23439"
                     /db_xref="HGNC:HGNC:808"
                     /db_xref="MIM:301073"
     exon            1..143
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1154
                     /gene="ATP1B4"
                     /note="isoform A is encoded by transcript variant 1;
                     X,K-ATPase beta-m subunit; x/potassium-transporting ATPase
                     subunit beta-m; protein ATP1B4; Na,K-ATPase beta
                     m-subunit; ATPase, Na+/K+ transporting, beta 4
                     polypeptide; BetaM"
                     /codon_start=1
                     /product="protein ATP1B4 isoform A"
                     /protein_id="NP_001135919.1"
                     /db_xref="CCDS:CCDS48158.1"
                     /db_xref="GeneID:23439"
                     /db_xref="HGNC:HGNC:808"
                     /db_xref="MIM:301073"
                     /translation="MRRQLRSRRAPSFPYSYRYRLDDPDEANQNYLADEEEEAEEEAR
                     VTVVPKSEEEEEEEEKEEEEEEEKEEEEGQGQPTGNAWWQKLQIMSEYLWDPERRMFL
                     ARTGQSWSLILLIYFFFYASLAAVITLCMYTLFLTISPYIPTFTERVKPPGVMIRPFA
                     HSLNFNFNVSEPDTWQHYVISLNGFLQGYNDSLQEEMNVDCPPGQYFIQDGNEDEDKK
                     ACQFKRSFLKNCSGLEDPTFGYSTGQPCILLKMNRIVGFRPELGDPVKVSCKVQRGDE
                     NDIRSISYYPESASFDLRYYPYYGKLTHVNYTSPLVAMHFTDVVKNQAVPVQCQLKGK
                     GVINDVINDRFVGRVIFTLNIET"
     exon            144..408
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     exon            409..537
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     exon            538..642
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     exon            643..839
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     exon            840..896
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     exon            897..992
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     exon            993..4757
                     /gene="ATP1B4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4735..4740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP1B4"
                     /note="hexamer: AATAAA"
     polyA_site      4757
                     /gene="ATP1B4"
                     /note="major polyA site"
ORIGIN      
        1 agtgtctcct gtaccagcag aagctccaga actctcaccc gattgcctgc ctctgctgcg
       61 tctttgccca ctgaacagcc atgagaaggc aactccggtc cagaagggct ccatcctttc
      121 cttacagtta tcgctacaga ctcgatgatc cggatgaagc gaaccagaac tacttagcag
      181 atgaagagga ggaagcagaa gaagaggctc gggtgacggt ggtgcccaaa tcggaggagg
      241 aggaagaaga ggaggagaaa gaagaggagg aagaggagga aaaggaggag gaagagggtc
      301 aaggtcagcc aacaggcaat gcctggtggc agaaattgca gatcatgagt gaatacctgt
      361 gggatccaga gagaaggatg tttctggccc gaacaggtca gagttggagc ctgatcttac
      421 tcatttactt cttcttctat gcctccttgg ctgctgtgat caccctctgc atgtacacac
      481 tatttctgac catcagtccc tatataccaa ccttcacgga gcgggtaaag cctcctggag
      541 ttatgatcag acccttcgcc catagcctta acttcaactt caacgtttct gaacccgaca
      601 cttggcagca ttatgtgatt agcctaaatg gctttctcca gggttataat gacagtcttc
      661 aagaggaaat gaatgtagat tgtcccccgg ggcagtactt catccaagat ggcaatgagg
      721 atgaggacaa gaaggcctgc caatttaagc gctccttcct aaagaactgc tctggtctgg
      781 aggacccaac ttttggatac tctactggac agccctgcat ccttctaaag atgaaccgga
      841 ttgtaggctt tcgtcctgag cttggagatc ctgtgaaggt ttcctgcaaa gttcagagag
      901 gtgatgaaaa tgacatccga tccatcagtt actacccaga gtcggcttct tttgacctcc
      961 gctactaccc ttactacggc aaactgactc acgttaacta cacatccccc ttggtggcaa
     1021 tgcactttac agacgtggtg aagaaccaag cagtgcctgt gcagtgccaa ctgaagggca
     1081 aaggcgtcat aaatgatgtc atcaatgatc gttttgtggg cagggtaatc tttaccctga
     1141 acatagaaac ttaagaactt cagggggcca ttcttaccag ttctgtttct gttttatctc
     1201 atggtatctc tggtagcacc tgaattcttt ttcttcaatt aggacacagc cagatggaca
     1261 tctaagacag ccgatcatct ttccttgcct atgacatgtg tataaaatga cattgtggga
     1321 gctgttcgat tttttaaagg tagtgtctcc tgatgacaaa cagagtatat taatttcctt
     1381 tccctccact taaaactaaa gcctgttctt gctgctggta atctccctgt agcgtaaaca
     1441 tagtatctga taaaatttac aatagccacg caatagccat caaggagaat ttctattatg
     1501 attataaatt catcatgttt tctaaaattc tgttggtttt agaggtcaga ttcctcccaa
     1561 ccaggctaat aacctaacac atgtttaaaa aaaatctgcc taagccgggt gtggtggcat
     1621 gcatctgtag tcccacctat tcaggagatt aaggcaggag gatcacttga gcccaggagg
     1681 tcaaggctgc agtgagctgc actgcattcc agcctgggtg acagagtgag atcctgtctc
     1741 tgaagaaaaa aaaaacctgc ctggcaaggt ccttccctgg gaatcaccac tcggtccaac
     1801 ctagacaacc aagaccgcta tacctaaaga cctctatatc ctggtgccta agaaacttct
     1861 gcctcccaca gacaactaag tgcttattca aagactaggt tattttcaac tgggaaaaaa
     1921 gcagtgctaa caggatattg ttctgggata gagatgaaga ccgtccttgt gactttttaa
     1981 agaggtgggg ctcactgcaa ctggggagaa cacttagcat atggatatga ttggtgtttg
     2041 attccttgct ctctggtgta atcgtctaaa ggcaaacatt cctgcaaaca ggtttttctc
     2101 agcttcaggc agaggagaca acatggaaga agattcccac cagctaattc ttcttgggct
     2161 atttgtttga cagtagcatg atgttttttg agaccatcag gggtggttac atagaccagc
     2221 agctacagct ctggaaattg aaatcataat ctgtcaatga atacatgaca agacagaacg
     2281 ttccttgcca ggccaggcaa aagccaaggc ccattagcca gtttagcatt tactttaaaa
     2341 atgacatgag gcagattctt atccaggatg tggatcagcc aggtcacttt gtcttatctt
     2401 tggtcacctg atcactcaac tgcttcttaa cacctccacc agggggaagg ctggcacaag
     2461 gagaaaaaaa aagcaagcat cagcgaatag tatagtgtct cagggtccga agcaagttta
     2521 aatgccacct aggaggatcc aaagtctgaa tctcctctac aatgtttcct ttctcccaaa
     2581 acagggaact gactgtctgg tagtgaagac aagcaagtgg agaagttata cgatatagtt
     2641 taatgagagt taaaaaacta gtatgtggaa agctatggga atatgaggaa aaatatcttg
     2701 agctaagaaa gtagcagagg aaatttcaca tgcaaagcca cagtcatgaa gagaccatgg
     2761 tgtgtctggg taactgtgag cagtttatgt aactggaatg aaaagggctc agaggaatgg
     2821 cagggatggc aagagatcca gctagagagg tattcaggga tggaaagagg actttgagtt
     2881 ttatccaata ggtgaaaatg agtaattaaa gcattttaat cagggaggct ctgtgatcac
     2941 atttgtgttt tattttattt tactttatta tttatttgtt tatttttgag atggagtttc
     3001 gctgttgtca cccaggctgg agtgcagtgg tgtgatctcg gctcactgca acctccacct
     3061 cccggattca agtgattctc cagcctcagc ctcctgagta gctgggatta caggcacaca
     3121 ccaccatgcc cagctaactt ttgtattttt ggcggagaca gggtttcacc atgttggcca
     3181 ggctggtctc gaactcctga cctcaagtga tccgcctgcc tcagcctccc acagtgctgg
     3241 gattacaggc gtgagccacc gcacccggct tgcaatttag aaagggcact tggcaaccac
     3301 tatgtgaagg gtgattggag aaggacaaga ctgtggaatg gggaataagg aaggaggagt
     3361 ttggagaatg actccaaagg tttgagcttg gctagaaccg gtaagatggt gacattgttg
     3421 atcaagactg ggaatataag agagaagcag gtttggagag atcaattttg aacattttag
     3481 acatgatttt ctattggtca gacattgatg tggagatgta aacacatgta gggttggtga
     3541 gaaggaaaga tgagaacaaa agcaacattg ggttaaggga actcgcttaa gaaattttaa
     3601 gctatttaat cttgggaact gaagccagtc atgtaaacat actataccaa tctagtccct
     3661 aacagtgttt tttctcttgt ggcagaaaga attgctgttc ctctttggaa tctccttccc
     3721 agacaccttc aaagtcttat tgacacagta aagggaggcc aaccactact aacaagttct
     3781 agaagatata ggatcttcta tagtaggtta atggaaaata caaaaacaaa caaacataca
     3841 atgaaactgc ctcctctcaa cccattttct taacaaattc aattttcaaa actaaccttt
     3901 aaaaagaaaa ggaacaaaat gaaaaagaca ataactttta aaccacttga aaattacctc
     3961 aatcaaactc tcaagattca gtagtaaaag ataatagaat gttagatctg gaaaggatat
     4021 tagagagtgt ttagaaaaaa caacttgcat tgcatctgac tccaggtcca gtgctctttc
     4081 tactctgagc tgctgcttac cagaaagtac catcttctta aaaatcaatg aatgatatcc
     4141 caaacatttt gaaacgtatg taaattttga gttaaaatag ttaacatttc acaggaattc
     4201 aactactggt gctatacttt atacataata cattatcctg ttaaatgcat tgactattag
     4261 acaaggaatt atgaatcatt tgtcaaataa tatttatctt tcaatggaat ccattgtgtc
     4321 cacaattgca aagcaatatt gaagggtact aagatagttt gggttgtcag ctaggacatg
     4381 aaaaatgtag gtttactata cagaactgga tatgataata tattcattaa agttatgttc
     4441 taactgttca atagacttct agtagattaa tttaaatagt tccccatacc gtgctgcatc
     4501 aggatttgat ttgtatgcca tctgttgcaa tgcacttggt tttacttgct tgtcaatgag
     4561 aaatactact tccaaatgtc ttcatggttt tgtccatact ggactttggg ttatgatttt
     4621 tcaccttcta ctcccctgaa atcattatcc taaagtaact ttttttaggc acctattttc
     4681 tggggatcaa catgtaaaaa aacatttata ttgtcttgag gagttgtcaa caacaataaa
     4741 ttgaaataaa aaagaaa
//
