LOCUS       NM_144616               1138 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1),
            mRNA.
ACCESSION   NM_144616
VERSION     NM_144616.4
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 1138)
  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 1138)
  AUTHORS   Yasuda,T., Delbono,O., Wang,Z.M., Messi,M.L., Girard,T.,
            Urwyler,A., Treves,S. and Zorzato,F.
  TITLE     JP-45/JSRP1 variants affect skeletal muscle excitation-contraction
            coupling by decreasing the sensitivity of the dihydropyridine
            receptor
  JOURNAL   Hum Mutat 34 (1), 184-190 (2013)
   PUBMED   22927026
  REMARK    GeneRIF: Data indicate that the presence of either one of these
            JP-45 variants decreased the sensitivity of the dihydropyridine
            receptor DHPR to activation.
REFERENCE   3  (bases 1 to 1138)
  AUTHORS   Newby,P.R., Pickles,O.J., Mazumdar,S., Brand,O.J., Carr-Smith,J.D.,
            Pearce,S.H., Franklyn,J.A., Evans,D.M., Simmonds,M.J. and
            Gough,S.C.
  CONSRTM   Wellcome Trust Case-Control Consortium (WTCCC)
  TITLE     Follow-up of potential novel Graves' disease susceptibility loci,
            identified in the UK WTCCC genome-wide nonsynonymous SNP study
  JOURNAL   Eur J Hum Genet 18 (9), 1021-1026 (2010)
   PUBMED   20442750
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 1138)
  AUTHORS   Gouadon,E., Schuhmeier,R.P., Ursu,D., Anderson,A.A., Treves,S.,
            Zorzato,F., Lehmann-Horn,F. and Melzer,W.
  TITLE     A possible role of the junctional face protein JP-45 in modulating
            Ca2+ release in skeletal muscle
  JOURNAL   J Physiol 572 (Pt 1), 269-280 (2006)
   PUBMED   16423849
  REMARK    GeneRIF: The results may be explained by a modulatory effect of
            JP-45 related to its reported in vitro interaction with the
            dihydropyridine receptor and the SR Ca(2+) binding protein
            calsequestrin (CSQ).
REFERENCE   5  (bases 1 to 1138)
  AUTHORS   Anderson,A.A., Treves,S., Biral,D., Betto,R., Sandona,D., Ronjat,M.
            and Zorzato,F.
  TITLE     The novel skeletal muscle sarcoplasmic reticulum JP-45 protein.
            Molecular cloning, tissue distribution, developmental expression,
            and interaction with alpha 1.1 subunit of the voltage-gated calcium
            channel
  JOURNAL   J Biol Chem 278 (41), 39987-39992 (2003)
   PUBMED   12871958
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA897543.1, DA898560.1,
            AK056978.1 and AW137573.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_144616.3.
            
            Summary: The protein encoded by this gene is involved in
            excitation-contraction coupling at the sarcoplasmic reticulum. The
            encoded protein can interact with CACNA1S, CACNB1, and
            calsequestrin to help regulate calcium influx and efflux in
            skeletal muscle. [provided by RefSeq, Jul 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056978.1, SRR1163658.99742.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300961.10/ ENSP00000300961.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                DA897543.1         8-49
            43-371              DA898560.1         23-351
            372-1137            AK056978.1         372-1137
            1138-1138           AW137573.1         2-2                 c
FEATURES             Location/Qualifiers
     source          1..1138
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1138
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /note="junctional sarcoplasmic reticulum protein 1"
                     /db_xref="GeneID:126306"
                     /db_xref="HGNC:HGNC:24963"
                     /db_xref="MIM:608743"
     exon            1..35
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /inference="alignment:Splign:2.1.0"
     exon            36..174
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1061
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /note="2310032K21Rik; homolog of mouse skeletal muscle
                     sarcoplasmic reticulum protein JP-45; junctional-face
                     membrane protein of 45 kDa homolog"
                     /codon_start=1
                     /product="junctional sarcoplasmic reticulum protein 1"
                     /protein_id="NP_653217.1"
                     /db_xref="CCDS:CCDS12086.1"
                     /db_xref="GeneID:126306"
                     /db_xref="HGNC:HGNC:24963"
                     /db_xref="MIM:608743"
                     /translation="MSMTTRAWEELDGGLGSCQALEDHSALAETQEDRASATPRLADS
                     GSVPHDSQVAEGPSVDTRPKKMEKEPAARGTPGTGKERLKAGASPRSVPARKKAQTAP
                     PLQPPPPPPALSEELPWGDLSLNKCLVLASLVALLGSAFQLCRDAVPGEAALQARVPE
                     PWVPPSSAPREPSSPLPKFEAQAPPSAPPAPRAEAEVRPKIPGSREAAENDEEEPGEA
                     TGEAVREDRVTLADRGPKERPRREGKPRKEKPRKEERPKKERPRKEERPRAAREPREA
                     LPQRWESREGGHRPWARDSRDAEPRKKQAWVSPRRPDEEQRPGSRQKLRAGKGRD"
     exon            175..212
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /inference="alignment:Splign:2.1.0"
     exon            213..327
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /inference="alignment:Splign:2.1.0"
     exon            328..501
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /inference="alignment:Splign:2.1.0"
     exon            502..593
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /inference="alignment:Splign:2.1.0"
     exon            594..1138
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1118..1123
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /note="hexamer: AATAAA"
     polyA_site      1138
                     /gene="JSRP1"
                     /gene_synonym="JP-45; JP45"
                     /note="major polyA site"
ORIGIN      
        1 gtcctgtcca caaggctcag caaagcggct ggcggcctgg cctgggacct gctgctgctc
       61 cagccatgtc catgacaacc agagcctggg aggagctgga tggcggcctg ggcagctgcc
      121 aggccctgga ggaccactct gcgctggccg agacccagga ggacagggct tcagcgacac
      181 ccaggctggc cgactccggc agcgtgcccc acgactctca ggtggctgaa ggccccagtg
      241 tggacaccag gcccaagaag atggaaaaag agcctgccgc cagggggacc ccaggaacgg
      301 ggaaggagag gctgaaagcc ggagcgagcc ctcggagcgt ccccgcgcgc aagaaggcgc
      361 agaccgcgcc gcccctgcag ccgccgccgc cgcccccggc cctgagcgag gagctgccct
      421 ggggagacct gtcgctcaac aagtgcctgg tgctcgcctc gctggtggcg ctgctgggct
      481 cggctttcca gctgtgccgc gacgccgtcc ctggggaggc agcactccaa gcacgtgtgc
      541 ccgagccctg ggtcccgcca agctcagccc cgagggagcc atcgtcgccc ctgcctaagt
      601 tcgaggccca ggcgcctcca tcagcgccgc ctgcgccccg ggccgaggca gaggtcagac
      661 ccaagattcc cgggagtcgg gaggctgcag agaacgacga agaggagccc ggcgaggcca
      721 ccggagaggc cgtccgggag gaccgtgtga ccctcgcaga ccggggaccc aaggagaggc
      781 ctcggagaga ggggaagccg cggaaggaga agccgcggaa ggaggagaga cctaagaaag
      841 agaggccgcg gaaagaggag aggccacggg ccgccaggga gccccgggaa gccctacccc
      901 agcgctggga gtcacgcgaa gggggccacc ggccgtgggc acgggactcc agggacgccg
      961 agcccaggaa gaagcaggcc tgggtgtccc cgaggcgtcc cgacgaggag cagcggcctg
     1021 ggagtcgcca gaagctccgc gcaggcaagg ggcgggactg agccggcccc gcgccggagt
     1081 ccaggggccc cttctggacg ccccgcgact ctggcgaaat aaagcgagtg ctgcggcc
//
