LOCUS       NM_004320               3493 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens ATPase sarcoplasmic/endoplasmic reticulum Ca2+
            transporting 1 (ATP2A1), transcript variant a, mRNA.
ACCESSION   NM_004320 XM_937782
VERSION     NM_004320.6
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 3493)
  AUTHORS   Berrocal,M., Saez,L. and Mata,A.M.
  TITLE     Sorcin Activates the Brain PMCA and Blocks the Inhibitory Effects
            of Molecular Markers of Alzheimer's Disease on the Pump Activity
  JOURNAL   Int J Mol Sci 22 (11), 6055 (2021)
   PUBMED   34205207
  REMARK    GeneRIF: Sorcin Activates the Brain PMCA and Blocks the Inhibitory
            Effects of Molecular Markers of Alzheimer's Disease on the Pump
            Activity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3493)
  AUTHORS   Boczek,T., Sobolczyk,M., Mackiewicz,J., Lisek,M., Ferenc,B., Guo,F.
            and Zylinska,L.
  TITLE     Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental
            Diseases
  JOURNAL   Int J Mol Sci 22 (6), 2785 (2021)
   PUBMED   33801794
  REMARK    GeneRIF: Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in
            Mental Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3493)
  AUTHORS   Aguayo-Ortiz,R. and Espinoza-Fonseca,L.M.
  TITLE     Atomistic Structure and Dynamics of the Ca2+-ATPase Bound to
            Phosphorylated Phospholamban
  JOURNAL   Int J Mol Sci 21 (19), 7261 (2020)
   PUBMED   33019581
  REMARK    GeneRIF: Atomistic Structure and Dynamics of the Ca(2+)-ATPase
            Bound to Phosphorylated Phospholamban.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3493)
  AUTHORS   Zhao,Y.G., Chen,Y., Miao,G., Zhao,H., Qu,W., Li,D., Wang,Z.,
            Liu,N., Li,L., Chen,S., Liu,P., Feng,D. and Zhang,H.
  TITLE     The ER-Localized Transmembrane Protein EPG-3/VMP1 Regulates SERCA
            Activity to Control ER-Isolation Membrane Contacts for
            Autophagosome Formation
  JOURNAL   Mol Cell 67 (6), 974-989 (2017)
   PUBMED   28890335
REFERENCE   5  (bases 1 to 3493)
  AUTHORS   Desmond,P.F., Labuza,A., Muriel,J., Markwardt,M.L., Mancini,A.E.,
            Rizzo,M.A. and Bloch,R.J.
  TITLE     Interactions between small ankyrin 1 and sarcolipin coordinately
            regulate activity of the sarco(endo)plasmic reticulum Ca2+-ATPase
            (SERCA1)
  JOURNAL   J Biol Chem 292 (26), 10961-10972 (2017)
   PUBMED   28487373
  REMARK    GeneRIF: These results suggest that sAnk1 interacts with SLN both
            directly and in complex with SERCA1 and reduces SLN's inhibitory
            effect on SERCA1 activity.
REFERENCE   6  (bases 1 to 3493)
  AUTHORS   Benders,A.A., Veerkamp,J.H., Oosterhof,A., Jongen,P.J.,
            Bindels,R.J., Smit,L.M., Busch,H.F. and Wevers,R.A.
  TITLE     Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and
            cultured muscle cells and the effects of dantrolene an verapamil
  JOURNAL   J Clin Invest 94 (2), 741-748 (1994)
   PUBMED   8040329
REFERENCE   7  (bases 1 to 3493)
  AUTHORS   Benders,A.G., van Kuppevelt,T.H., Oosterhof,A., Wevers,R.A. and
            Veerkamp,J.H.
  TITLE     Adenosine triphosphatases during maturation of cultured human
            skeletal muscle cells and in adult human muscle
  JOURNAL   Biochim Biophys Acta 1112 (1), 89-98 (1992)
   PUBMED   1329967
REFERENCE   8  (bases 1 to 3493)
  AUTHORS   Callen,D.F., Baker,E., Lane,S., Nancarrow,J., Thompson,A.,
            Whitmore,S.A., MacLennan,D.H., Berger,R., Cherif,D., Jarvela,I. et
            al.
  TITLE     Regional mapping of the Batten disease locus (CLN3) to human
            chromosome 16p12
  JOURNAL   Am J Hum Genet 49 (6), 1372-1377 (1991)
   PUBMED   1746562
REFERENCE   9  (bases 1 to 3493)
  AUTHORS   MacLennan,D.H., Brandl,C.J., Champaneria,S., Holland,P.C.,
            Powers,V.E. and Willard,H.F.
  TITLE     Fast-twitch and slow-twitch/cardiac Ca2+ ATPase genes map to human
            chromosomes 16 and 12
  JOURNAL   Somat Cell Mol Genet 13 (4), 341-346 (1987)
   PUBMED   2842876
  REMARK    Erratum:[Somat Cell Mol Genet 1988 Nov;14(6):645]
REFERENCE   10 (bases 1 to 3493)
  AUTHORS   Brandl,C.J., Green,N.M., Korczak,B. and MacLennan,D.H.
  TITLE     Two Ca2+ ATPase genes: homologies and mechanistic implications of
            deduced amino acid sequences
  JOURNAL   Cell 44 (4), 597-607 (1986)
   PUBMED   2936465
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647367.1, AK291314.1 and
            BX537784.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_004320.5.
            
            Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which
            are intracellular pumps located in the sarcoplasmic or endoplasmic
            reticula of muscle cells. This enzyme catalyzes the hydrolysis of
            ATP coupled with the translocation of calcium from the cytosol to
            the sarcoplasmic reticulum lumen, and is involved in muscular
            excitation and contraction. Mutations in this gene cause some
            autosomal recessive forms of Brody disease, characterized by
            increasing impairment of muscular relaxation during exercise.
            Alternative splicing results in three transcript variants encoding
            different isoforms. [provided by RefSeq, Oct 2013].
            
            Transcript Variant: This variant (a) represents the longer
            transcript but encodes the shorter isoform (a).
            
            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 :: BX647367.1, BX649072.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395503.9/ ENSP00000378879.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-861               BX647367.1         1-861
            862-3232            AK291314.1         791-3161
            3233-3493           BX537784.1         3231-3491
FEATURES             Location/Qualifiers
     source          1..3493
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..3493
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /note="ATPase sarcoplasmic/endoplasmic reticulum Ca2+
                     transporting 1"
                     /db_xref="GeneID:487"
                     /db_xref="HGNC:HGNC:811"
                     /db_xref="MIM:108730"
     exon            1..302
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..3169
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /EC_number="7.2.2.10"
                     /note="isoform a is encoded by transcript variant a;
                     sarcoplasmic/endoplasmic reticulum calcium ATPase 1;
                     calcium pump 1; SR Ca(2+)-ATPase 1; endoplasmic reticulum
                     class 1/2 Ca(2+) ATPase; ATPase, Ca++ transporting,
                     cardiac muscle, fast twitch 1"
                     /codon_start=1
                     /product="sarcoplasmic/endoplasmic reticulum calcium
                     ATPase 1 isoform a"
                     /protein_id="NP_004311.1"
                     /db_xref="CCDS:CCDS42139.1"
                     /db_xref="GeneID:487"
                     /db_xref="HGNC:HGNC:811"
                     /db_xref="MIM:108730"
                     /translation="MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAE
                     EGKTLWELVIEQFEDLLVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILIANA
                     IVGVWQERNAENAIEALKEYEPEMGKVYRADRKSVQRIKARDIVPGDIVEVAVGDKVP
                     ADIRILAIKSTTLRVDQSILTGESVSVIKHTEPVPDPRAVNQDKKNMLFSGTNIAAGK
                     ALGIVATTGVGTEIGKIRDQMAATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINI
                     GHFNDPVHGGSWFRGAIYYFKIAVALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVR
                     SLPSVETLGCTSVICSDKTGTLTTNQMSVCKMFIIDKVDGDICLLNEFSITGSTYAPE
                     GEVLKNDKPVRPGQYDGLVELATICALCNDSSLDFNEAKGVYEKVGEATETALTTLVE
                     KMNVFNTDVRSLSKVERANACNSVIRQLMKKEFTLEFSRDRKSMSVYCSPAKSSRAAV
                     GNKMFVKGAPEGVIDRCNYVRVGTTRVPLTGPVKEKIMAVIKEWGTGRDTLRCLALAT
                     RDTPPKREEMVLDDSARFLEYETDLTFVGVVGMLDPPRKEVTGSIQLCRDAGIRVIMI
                     TGDNKGTAIAICRRIGIFGENEEVADRAYTGREFDDLPLAEQREACRRACCFARVEPS
                     HKSKIVEYLQSYDEITAMTGDGVNDAPALKKAEIGIAMGSGTAVAKTASEMVLADDNF
                     STIVAAVEEGRAIYNNMKQFIRYLISSNVGEVVCIFLTAALGLPEALIPVQLLWVNLV
                     TDGLPATALGFNPPDLDIMDRPPRSPKEPLISGWLFFRYMAIGGYVGAATVGAAAWWF
                     LYAEDGPHVNYSQLTHFMQCTEDNTHFEGIDCEVFEAPEPMTMALSVLVTIEMCNALN
                     SLSENQSLLRMPPWVNIWLLGSICLSMSLHFLILYVDPLPMIFKLRALDLTQWLMVLK
                     ISLPVIGLDEILKFVARNYLEG"
     exon            303..320
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            321..403
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            404..508
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            509..647
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            648..728
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            729..814
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            815..1112
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1279
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1368
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1471
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1603
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1729
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1730..1948
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1949..2284
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2285..2505
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2506..2708
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2709..2794
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2795..2928
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2929..3046
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            3047..3164
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            3165..3206
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            3207..3493
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3473..3478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /note="hexamer: AATAAA"
     polyA_site      3493
                     /gene="ATP2A1"
                     /gene_synonym="ATP2A; SERCA1"
                     /note="major polyA site"
ORIGIN      
        1 ggccggctgc tcaagtggga cgggggtcag agctttgtgg agggaagaaa aacctggagg
       61 gggcaggaga gtaaaaagaa gaaacccagg cagacaggca gttggacaca ctgaggaaga
      121 ccccccacga gtgggaaccc cctggaagga acacaccggc cccggccccc aggaagggag
      181 cacaatggag gccgctcatg ctaaaaccac ggaggaatgt ttggcctatt ttggggtgag
      241 tgagaccacg ggcctcaccc cggaccaagt taagcggaat ctggagaaat acggcctcaa
      301 tgagctccct gctgaggaag ggaagaccct gtgggagctg gtgatagagc agtttgaaga
      361 cctcctggtg cggattctcc tcctggccgc atgcatttcc ttcgtgctgg cctggtttga
      421 ggaaggtgaa gagaccatca ctgcctttgt tgaacccttt gtcatcctct tgatcctcat
      481 tgccaatgcc atcgtggggg tttggcagga gcggaacgca gagaacgcca tcgaggccct
      541 gaaggagtat gagccagaga tggggaaggt ctaccgggct gaccgcaagt cagtgcaaag
      601 gatcaaggct cgggacatcg tccctgggga catcgtggag gtggctgtgg gggacaaagt
      661 ccctgcagac atccgaatcc tcgccatcaa atccaccacg ctgcgggttg accagtccat
      721 cctgacaggc gagtctgtat ctgtcatcaa acacacggag cccgttcctg acccccgagc
      781 tgtcaaccag gacaagaaga acatgctttt ctcgggcacc aacattgcag ccggcaaggc
      841 cttgggcatc gtggccacca ctggtgtggg caccgagatt gggaagatcc gagaccaaat
      901 ggctgccaca gaacaggaca agaccccctt gcagcagaag ctggatgagt ttggggagca
      961 gctctccaag gtcatctccc tcatctgtgt ggctgtctgg cttatcaaca ttggccactt
     1021 caacgacccc gtccatgggg gctcctggtt ccgcggggcc atctactact ttaagattgc
     1081 cgtggccttg gctgtggctg ccatccccga aggtcttcct gcagtcatca ccacctgcct
     1141 ggccctgggt acccgtcgga tggcaaagaa gaatgccatt gtaagaagct tgccctccgt
     1201 agagaccctg ggctgcacct ctgtcatctg ttccgacaag acaggcaccc tcaccaccaa
     1261 ccagatgtct gtctgcaaga tgtttatcat tgacaaggtg gatggggaca tctgcctcct
     1321 gaatgagttc tccatcaccg gctccactta cgctccagag ggagaggtct tgaagaatga
     1381 taagccagtc cggccagggc agtatgacgg gctggtggag ctggccacca tctgtgccct
     1441 ctgcaatgac tcctccttgg acttcaacga ggccaaaggt gtctatgaga aggtcggcga
     1501 ggccaccgag acagcactca ccaccctggt ggagaagatg aatgtgttca acacggatgt
     1561 gagaagcctc tcgaaggtgg agagagccaa cgcctgcaac tcggtgatcc gccagctaat
     1621 gaagaaggaa ttcaccctgg agttctcccg agacagaaag tccatgtctg tctattgctc
     1681 cccagccaaa tcttcccggg ctgctgtggg caacaagatg tttgtcaagg gtgcccctga
     1741 gggcgtcatc gaccgctgta actatgtgcg agttggcacc acccgggtgc cactgacggg
     1801 gccggtgaag gaaaagatca tggcggtgat caaggagtgg ggcactggcc gggacaccct
     1861 gcgctgcttg gccctggcca cccgggacac ccccccgaag cgagaggaaa tggtcctgga
     1921 tgactctgcc aggttcctgg agtatgagac ggacctgaca ttcgtgggtg tagtgggcat
     1981 gctggaccct ccgcgcaagg aggtcacggg ctccatccag ctgtgccgtg acgccgggat
     2041 ccgggtgatc atgatcactg gggacaacaa gggcacagcc attgccatct gccggcgaat
     2101 tggcatcttt ggggagaacg aggaggtggc cgatcgcgcc tacacgggcc gagagttcga
     2161 cgacctgccc ctggctgaac agcgggaagc ctgccgacgt gcctgctgct tcgcccgtgt
     2221 ggagccctcg cacaagtcca agattgtgga gtacctgcag tcctacgatg agatcacagc
     2281 catgacaggt gatggcgtca atgacgcccc tgccctgaag aaggctgaga ttggcattgc
     2341 catgggatct ggcactgccg tggccaagac tgcctctgag atggtgctgg ctgacgacaa
     2401 cttctccacc atcgtagctg ctgtggagga gggccgcgcc atctacaaca acatgaagca
     2461 gttcatccgc tacctcattt cctccaacgt gggcgaggtg gtctgtatct tcctgaccgc
     2521 tgccctgggg ctgcctgagg ccctgatccc ggtgcagctg ctatgggtga acttggtgac
     2581 cgacgggctc ccagccacag ccctgggctt caacccacca gacctggaca tcatggaccg
     2641 ccccccccgg agccccaagg agcccctcat cagtggctgg ctcttcttcc gctacatggc
     2701 aatcgggggc tatgtgggtg cagccaccgt gggagcagct gcctggtggt tcctgtacgc
     2761 tgaggatggg cctcatgtca actacagcca gctgactcac ttcatgcagt gcaccgagga
     2821 caacacccac tttgagggca tagactgtga ggtcttcgag gcccccgagc ccatgaccat
     2881 ggccctgtcc gtgctggtga ccatcgagat gtgcaatgca ctgaacagcc tgtccgagaa
     2941 ccagtccctg ctgcggatgc caccctgggt gaacatctgg ctgctgggct ccatctgcct
     3001 ctccatgtcc ctgcacttcc tcatcctcta tgttgacccc ctgccgatga tcttcaagct
     3061 ccgggccctg gacctcaccc agtggctcat ggtcctcaag atctcactgc cagtcattgg
     3121 gctcgacgaa atcctcaagt tcgttgctcg gaactaccta gagggataac tgttccccct
     3181 cctccatctc tgagcccgtg tcacagatcc agaagatgaa agaaggaagt gagcatcctt
     3241 ttgctctgtc ctccccaccc cgatagtgac acatcttcag gcagagctgt ggcacagacc
     3301 cccgtcctgt cccccacacc cgtgtcatgt gtctgtttat aaacatgtcc ccttcccttt
     3361 ccttccccct cggccacccg cctccctctc aaccttgtaa attccccttc ccaaccccga
     3421 ggggcttgca gggacaaggc gaccgactgc gctgagctgc ttatttattg aaaataaacg
     3481 acggaaaagt ctg
//
