LOCUS       NM_001363050            4001 bp    mRNA    linear   PRI 29-SEP-2024
DEFINITION  Homo sapiens junctophilin 1 (JPH1), transcript variant 3, mRNA.
ACCESSION   NM_001363050 XM_005251274
VERSION     NM_001363050.1
KEYWORDS    RefSeq.
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 4001)
  AUTHORS   Tammineni,E.R., Figueroa,L., Manno,C., Varma,D., Kraeva,N.,
            Ibarra,C.A., Klip,A., Riazi,S. and Rios,E.
  TITLE     Muscle calcium stress cleaves junctophilin1, unleashing a gene
            regulatory program predicted to correct glucose dysregulation
  JOURNAL   Elife 12, e78874 (2023)
   PUBMED   36724092
  REMARK    GeneRIF: Muscle calcium stress cleaves junctophilin1, unleashing a
            gene regulatory program predicted to correct glucose dysregulation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4001)
  AUTHORS   Perni,S. and Beam,K.
  TITLE     Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release
            despite considerable divergence
  JOURNAL   J Gen Physiol 154 (9) (2022)
   PUBMED   35089322
  REMARK    GeneRIF: Junctophilins 1, 2, and 3 all support voltage-induced Ca2+
            release despite considerable divergence.
REFERENCE   3  (bases 1 to 4001)
  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   4  (bases 1 to 4001)
  AUTHORS   Kanwal,S. and Perveen,S.
  TITLE     Association of SNP in JPH1 gene with severity of disease in Charcot
            Marie Tooth 2K patients
  JOURNAL   J Pak Med Assoc 69 (2), 241-243 (2019)
   PUBMED   30804591
  REMARK    GeneRIF: Charcot Marie Tooth 2K patients with early and late onset
            were analyzed for association of rs139723190 SNP in JPH1 gene
            responsible for CMT type severe and mild phenotypes.
REFERENCE   5  (bases 1 to 4001)
  AUTHORS   Pla-Martin,D., Calpena,E., Lupo,V., Marquez,C., Rivas,E.,
            Sivera,R., Sevilla,T., Palau,F. and Espinos,C.
  TITLE     Junctophilin-1 is a modifier gene of GDAP1-related
            Charcot-Marie-Tooth disease
  JOURNAL   Hum Mol Genet 24 (1), 213-229 (2015)
   PUBMED   25168384
  REMARK    GeneRIF: Results show that JPH1 and GDAP1 share a common pathway
            and depend on each other; therefore, JPH1 can contribute to the
            phenotypical consequences of GDAP1 mutations.
REFERENCE   6  (bases 1 to 4001)
  AUTHORS   Nusbaum,C., Mikkelsen,T.S., Zody,M.C., Asakawa,S., Taudien,S.,
            Garber,M., Kodira,C.D., Schueler,M.G., Shimizu,A., Whittaker,C.A.,
            Chang,J.L., Cuomo,C.A., Dewar,K., FitzGerald,M.G., Yang,X.,
            Allen,N.R., Anderson,S., Asakawa,T., Blechschmidt,K., Bloom,T.,
            Borowsky,M.L., Butler,J., Cook,A., Corum,B., DeArellano,K.,
            DeCaprio,D., Dooley,K.T., Dorris,L. 3rd, Engels,R., Glockner,G.,
            Hafez,N., Hagopian,D.S., Hall,J.L., Ishikawa,S.K., Jaffe,D.B.,
            Kamat,A., Kudoh,J., Lehmann,R., Lokitsang,T., Macdonald,P.,
            Major,J.E., Matthews,C.D., Mauceli,E., Menzel,U., Mihalev,A.H.,
            Minoshima,S., Murayama,Y., Naylor,J.W., Nicol,R., Nguyen,C.,
            O'Leary,S.B., O'Neill,K., Parker,S.C., Polley,A., Raymond,C.K.,
            Reichwald,K., Rodriguez,J., Sasaki,T., Schilhabel,M., Siddiqui,R.,
            Smith,C.L., Sneddon,T.P., Talamas,J.A., Tenzin,P., Topham,K.,
            Venkataraman,V., Wen,G., Yamazaki,S., Young,S.K., Zeng,Q.,
            Zimmer,A.R., Rosenthal,A., Birren,B.W., Platzer,M., Shimizu,N. and
            Lander,E.S.
  TITLE     DNA sequence and analysis of human chromosome 8
  JOURNAL   Nature 439 (7074), 331-335 (2006)
   PUBMED   16421571
REFERENCE   7  (bases 1 to 4001)
  AUTHORS   Takeshima,H.
  TITLE     [Ryanodine receptor and junctional membrane structure]
  JOURNAL   Nihon Yakurigaku Zasshi 121 (4), 203-210 (2003)
   PUBMED   12777839
  REMARK    Review article
REFERENCE   8  (bases 1 to 4001)
  AUTHORS   Komazaki,S., Ito,K., Takeshima,H. and Nakamura,H.
  TITLE     Deficiency of triad formation in developing skeletal muscle cells
            lacking junctophilin type 1
  JOURNAL   FEBS Lett 524 (1-3), 225-229 (2002)
   PUBMED   12135771
REFERENCE   9  (bases 1 to 4001)
  AUTHORS   Nishi,M., Mizushima,A., Nakagawara,Ki. and Takeshima,H.
  TITLE     Characterization of human junctophilin subtype genes
  JOURNAL   Biochem Biophys Res Commun 273 (3), 920-927 (2000)
   PUBMED   10891348
REFERENCE   10 (bases 1 to 4001)
  AUTHORS   Takeshima,H., Komazaki,S., Nishi,M., Iino,M. and Kangawa,K.
  TITLE     Junctophilins: a novel family of junctional membrane complex
            proteins
  JOURNAL   Mol Cell 6 (1), 11-22 (2000)
   PUBMED   10949023
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC140875.1, BX537756.1,
            BC049372.1, AC087792.7 and BU687964.1.
            
            On Jun 20, 2018 this sequence version replaced XM_005251274.3.
            
            Summary: Junctional complexes between the plasma membrane and
            endoplasmic/sarcoplasmic reticulum are a common feature of all
            excitable cell types and mediate cross talk between cell surface
            and intracellular ion channels. The protein encoded by this gene is
            a component of junctional complexes and is composed of a C-terminal
            hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum
            membrane and a remaining cytoplasmic domain that shows specific
            affinity for the plasma membrane. This gene is a member of the
            junctophilin gene family. [provided by RefSeq, Jul 2008].
            
            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.
            
            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 :: SRR1803614.101502.1,
                                           SRR1660809.144892.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-172               BC140875.1         1-172
            173-1486            BX537756.1         39-1352
            1487-1657           BC049372.1         1098-1268
            1658-2075           BX537756.1         1524-1941
            2076-3274           AC087792.7         19264-20462
            3275-4001           BU687964.1         1-727               c
FEATURES             Location/Qualifiers
     source          1..4001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     gene            1..4001
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /note="junctophilin 1"
                     /db_xref="GeneID:56704"
                     /db_xref="HGNC:HGNC:14201"
                     /db_xref="MIM:605266"
     exon            1..453
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..2060
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /note="junctophilin type 1"
                     /codon_start=1
                     /product="junctophilin-1"
                     /protein_id="NP_001349979.1"
                     /db_xref="CCDS:CCDS6217.1"
                     /db_xref="GeneID:56704"
                     /db_xref="HGNC:HGNC:14201"
                     /db_xref="MIM:605266"
                     /translation="MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSH
                     GFEVVGGYTWPSGNTYQGYWAQGKRHGLGVETKGKWMYRGEWSHGFKGRYGVRQSLCT
                     PARYEGTWSNGLQDGYGVETYGDGGTYQGQWAGGMRHGYGVRQSVPYGMATVIRSPLR
                     TSLASLRSEQSNGSVLHDAAAAADSPAGTRGGFVLNFHADAELAGKKKGGLFRRGSLL
                     GSMKLRKSESKSSISSKRSSVRSDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDAT
                     TTETYMGEWKNDKRNGFGVSERSNGMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNN
                     ILVRGIRKQLIPIRHTKTREKVDRAIEGAQRAAAMARTKVEIANSRTAHARAKADAAD
                     QAALAARQECDIARAVARELSPDFYQPGPDYVKQRFQEGVDAKENPEEKVPEKPPTPK
                     ESPHFYRKGTTPPRSPEASPKHSHSPASSPKPLKKQNPSSGARLNQDKRSVADEQVTA
                     IVNKPLMSKAPTKEAGAVVPQSKYSGRHHIPNPSNGELHSQYHGYYVKLNAPQHPPVD
                     VEDGDGSSQSSSALVHKPSANKWSPSKSVTKPVAKESKAEPKAKKSELAIPKNPASND
                     SCPALEKEANSGPNSIMIVLVMLLNIGLAILFVHFLT"
     exon            454..1213
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1332
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1979
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1980..2075
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..3985
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3959..3964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /note="hexamer: AATAAA"
     polyA_site      3985
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /note="major polyA site"
ORIGIN      
        1 gagctacacc ctgccgtgcc cagcactgcc cgcgtccgtg cccctgcggg gagcgcgccg
       61 gggctgcccc ccgaatgacg ggcggaaggt tcgacttcga cgatggcggc acctactgcg
      121 gcggctggga ggagggcaag gcgcacgggc atggcatctg cacggggccc aagggccagg
      181 gcgagtactc gggctcctgg tcgcacggct tcgaggtggt cggaggctac acctggccca
      241 gcggcaacac ctaccagggc tactgggcgc agggcaagcg gcacgggctg ggggtggaga
      301 cgaagggcaa gtggatgtac cggggggagt ggtcacatgg tttcaagggg cgctacgggg
      361 tccggcagag cctgtgcacc cccgctcgct acgagggtac ctggagtaac gggctgcaag
      421 acgggtacgg cgtggagacc tacggggacg gaggtaccta ccagggccag tgggccggag
      481 gcatgcggca tggctacggc gtgcgccaga gcgtgcccta cggcatggcc acggtgatcc
      541 gctcaccgct gcgtacctcg ctggcctcgc tgcgcagcga gcagagcaat ggcagcgtgc
      601 tccacgacgc cgcagccgcc gccgacagcc cggccggcac ccgcggcggt ttcgtgctca
      661 acttccacgc agacgctgag ctagcgggca agaagaaggg cggcctcttc cggaggggct
      721 cccttcttgg aagcatgaaa cttcgcaagt ccgaatccaa gtcttccatc tcgagcaagc
      781 gcagctctgt ccgcagcgac gcggccatga gcagaattag ttccagcgat gccaactcca
      841 cgatcagctt tggcgatgta gattgtgatt tttgcccggt ggaagaccac gtggacgcca
      901 ccaccacgga aacctacatg ggcgagtgga agaacgacaa gcgcaacggc ttcggcgtta
      961 gcgagcgctc caatggcatg aagtatgaag gggagtgggc aaataacaag aggcatggat
     1021 atggctgtac cgtgtttcct gacggctcca aagaagaggg aaaatacaaa aataatattc
     1081 tggtccgtgg gataaggaag cagcttatac caataagaca tacaaaaact agggagaagg
     1141 tggacagagc aattgaaggc gcccaaaggg cagctgccat ggccagaacc aaagtggaaa
     1201 tagcaaattc aaggactgca catgccagag cgaaggccga tgccgccgac caggccgcgc
     1261 tggccgctcg ccaggagtgc gacatcgcga gagctgtggc cagggagctg tcacctgatt
     1321 tctaccaacc aggccctgat tacgtcaaac agagatttca ggaaggtgta gatgctaaag
     1381 aaaatccaga agaaaaggta ccagaaaagc cacctacacc aaaggagtct cctcattttt
     1441 atcgcaaagg cacgacaccc ccaagatctc ctgaggcaag tcccaaacac agccactctc
     1501 ctgcttcctc cccaaagccc ctgaagaagc aaaaccccag ctcaggggcg agactcaacc
     1561 aagacaaaag gagtgtggct gatgagcagg tgacggccat tgtcaataag cccttgatgt
     1621 caaaggctcc cacgaaggag gcaggagcgg ttgtgcccca gtccaagtac tctggccgcc
     1681 accacatccc caaccccagt aacggggagc tgcattctca gtatcacggc tactacgtga
     1741 agctgaacgc cccccagcac cctccagtag acgtggagga cggcgatgga tccagccagt
     1801 cttcctcagc actggtgcac aagccatccg ctaacaagtg gagtccctcc aaatctgtga
     1861 caaaaccagt tgccaaagaa agcaaagctg agccaaaagc taagaagtct gaacttgcta
     1921 taccaaagaa tccagcaagc aacgattcat gccctgcttt ggaaaaagaa gccaattcag
     1981 gccctaattc aatcatgatt gtccttgtca tgctgttgaa tatcgggttg gccattcttt
     2041 ttgttcactt tctaacttga ttggaattag gaaagtaggg agctggggaa acgactgccc
     2101 gaggaatgcg gtcggaggat tgtgttgctg tggacgtggt tccaacattc actcctatct
     2161 cattagaaga aataggtagc agcatcactc accagtctta tgccatgacc tgctgcttta
     2221 acatctcctg gaatgttctg ggagagaacg tttcgtttgc ttgtgcacga ctctgttcat
     2281 ttttgctgtt tatttaaatc tgacgtatag tcatctacca cctgcggtcc tggccggacg
     2341 aaacacacgt gttgcatctc aaggaaaaga aacaacaaaa tgctagtgaa aatgtgctta
     2401 ttttgatagc aatataccat cttttatgtc atttattctt cctatacttg taaaaggtta
     2461 tttatcttta aaatttagca atttgaagac actatgcctt cctaagaact aatttaattc
     2521 taaatatttt taacattact gaggtgaatt atttatgcac ttaggaagtg ctaaatttta
     2581 aaagctgaaa cacaacagaa ttctaagaaa tatagtccaa acgttgcatg gattgcagta
     2641 atcagtgttt aaaggattca gtttctttgc tgacgtactt tacaaccaaa taaaatcttg
     2701 tcggtggctg tgttaattcc catgaaagtt aagcaagatg ctattaataa actgctctgc
     2761 tctttcttgt tttctttttc caacttaaat ttctgttgaa tacattcagg tagaacataa
     2821 agccttgttc aatcactgcc tctcagtttt ctgcctttcc tgtttttcaa agtccttttg
     2881 taatttcatt tcacatttta aaggcttaga catttttatt ttaaatatgt gtcttttaca
     2941 gtcttttgtc attctgacat ttctggattt ttgctgtttt ataatttacc ctttgttatt
     3001 cagaagcatg cttacttata gaaactaaat ggtctttata aaagtaatta cttaaaaaga
     3061 aatcagggga agaaagatat ctatctaatc tattaaatct ttataaaaca ttacattgca
     3121 gagggggagc tactcctaaa tattttcatg atttgcatgg tttaatcaga tttttttttt
     3181 tttttacacc atattagcta ccttttcaat ggagaagaga cagttcacac aattccctgg
     3241 ttagcacaga tgtggactga gtgctttgtc acctgcaggg tagtaaccca gtgatgtttc
     3301 ttacagaagc acaatatgtt gaaaatcctg ggtgtgacca atatggaata aagaagaagg
     3361 cagaaagaga gcaaatgaaa aatttcaact tgtatattca ttttttacat tttgctttga
     3421 cttttaaatt taggaagtcc gtttttacct gagaacaaat gtttaaagtt cctgcgtcac
     3481 tctcagtact ctcactgccc ctcccaaacc ctatagctcc ttacgctggg aaagctggtt
     3541 ttttaaaaaa ataataataa aatatttaat cttattaagt gttcatttaa aatgcgtaat
     3601 gctttggaaa taatgggtaa cagatagcga gaggatatgt ttataaagtg agcatgttgg
     3661 tcccatttat aaatatatgt atgatttata agctttttta aaacaaagct caaattgttg
     3721 gtatttttct aaaatgtgca cagctgtatt ttacatgaag gctctttcta atgggttgtt
     3781 atactgtact caacattttg gacagcacat gaagtctgcc aatgtactta ataaaacatg
     3841 actttgttta tttaaagttt cttgctgtga aaaagaactc cctacctgtg agttccttta
     3901 tttataattc ttgaaaccaa aatgtataat gtacagtttt cacaactgta tctgctctaa
     3961 taaaaaaaag ttggttatta atgaaaaaaa aaaaaaaaaa a
//
