LOCUS       NM_020647               4590 bp    mRNA    linear   PRI 29-SEP-2024
DEFINITION  Homo sapiens junctophilin 1 (JPH1), transcript variant 1, mRNA.
ACCESSION   NM_020647
VERSION     NM_020647.4
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 4590)
  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 4590)
  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 4590)
  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 4590)
  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 4590)
  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 4590)
  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 4590)
  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 4590)
  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 4590)
  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 4590)
  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 AF110324.3, BC140875.1,
            BX537756.1, BC049372.1, AC087792.7 and BU687964.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020647.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR1803612.80463.1,
                                           SRR1660805.80660.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342232.5/ ENSP00000344488.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-179               AF110324.3         71535-71713         c
            180-351             BC140875.1         1-172
            352-1665            BX537756.1         39-1352
            1666-1836           BC049372.1         1098-1268
            1837-2254           BX537756.1         1524-1941
            2255-3879           AC087792.7         18838-20462
            3880-4590           BU687964.1         17-727              c
FEATURES             Location/Qualifiers
     source          1..4590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     gene            1..4590
                     /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..632
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             254..2239
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /note="junctophilin type 1"
                     /codon_start=1
                     /product="junctophilin-1"
                     /protein_id="NP_065698.1"
                     /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            633..1392
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1511
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..2158
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2159..2254
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2255..4590
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4564..4569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /note="hexamer: AATAAA"
     polyA_site      4590
                     /gene="JPH1"
                     /gene_synonym="CMT2K; CMYO25; JP-1; JP1"
                     /note="major polyA site"
ORIGIN      
        1 ctctcgcgcg cggcgctggc ccaggcggcg gcggcgaagg aggaggagga ggaggaggaa
       61 ggcggcggtg gcggcggcaa aagaggaggg aggacggggg cggcgtcgga ctggagccga
      121 gcggcagcgc gagctgccca gggcgctgtc gtgagctcgc ccgccgggcc cccacccccg
      181 agctacaccc tgccgtgccc agcactgccc gcgtccgtgc ccctgcgggg agcgcgccgg
      241 ggctgccccc cgaatgacgg gcggaaggtt cgacttcgac gatggcggca cctactgcgg
      301 cggctgggag gagggcaagg cgcacgggca tggcatctgc acggggccca agggccaggg
      361 cgagtactcg ggctcctggt cgcacggctt cgaggtggtc ggaggctaca cctggcccag
      421 cggcaacacc taccagggct actgggcgca gggcaagcgg cacgggctgg gggtggagac
      481 gaagggcaag tggatgtacc ggggggagtg gtcacatggt ttcaaggggc gctacggggt
      541 ccggcagagc ctgtgcaccc ccgctcgcta cgagggtacc tggagtaacg ggctgcaaga
      601 cgggtacggc gtggagacct acggggacgg aggtacctac cagggccagt gggccggagg
      661 catgcggcat ggctacggcg tgcgccagag cgtgccctac ggcatggcca cggtgatccg
      721 ctcaccgctg cgtacctcgc tggcctcgct gcgcagcgag cagagcaatg gcagcgtgct
      781 ccacgacgcc gcagccgccg ccgacagccc ggccggcacc cgcggcggtt tcgtgctcaa
      841 cttccacgca gacgctgagc tagcgggcaa gaagaagggc ggcctcttcc ggaggggctc
      901 ccttcttgga agcatgaaac ttcgcaagtc cgaatccaag tcttccatct cgagcaagcg
      961 cagctctgtc cgcagcgacg cggccatgag cagaattagt tccagcgatg ccaactccac
     1021 gatcagcttt ggcgatgtag attgtgattt ttgcccggtg gaagaccacg tggacgccac
     1081 caccacggaa acctacatgg gcgagtggaa gaacgacaag cgcaacggct tcggcgttag
     1141 cgagcgctcc aatggcatga agtatgaagg ggagtgggca aataacaaga ggcatggata
     1201 tggctgtacc gtgtttcctg acggctccaa agaagaggga aaatacaaaa ataatattct
     1261 ggtccgtggg ataaggaagc agcttatacc aataagacat acaaaaacta gggagaaggt
     1321 ggacagagca attgaaggcg cccaaagggc agctgccatg gccagaacca aagtggaaat
     1381 agcaaattca aggactgcac atgccagagc gaaggccgat gccgccgacc aggccgcgct
     1441 ggccgctcgc caggagtgcg acatcgcgag agctgtggcc agggagctgt cacctgattt
     1501 ctaccaacca ggccctgatt acgtcaaaca gagatttcag gaaggtgtag atgctaaaga
     1561 aaatccagaa gaaaaggtac cagaaaagcc acctacacca aaggagtctc ctcattttta
     1621 tcgcaaaggc acgacacccc caagatctcc tgaggcaagt cccaaacaca gccactctcc
     1681 tgcttcctcc ccaaagcccc tgaagaagca aaaccccagc tcaggggcga gactcaacca
     1741 agacaaaagg agtgtggctg atgagcaggt gacggccatt gtcaataagc ccttgatgtc
     1801 aaaggctccc acgaaggagg caggagcggt tgtgccccag tccaagtact ctggccgcca
     1861 ccacatcccc aaccccagta acggggagct gcattctcag tatcacggct actacgtgaa
     1921 gctgaacgcc ccccagcacc ctccagtaga cgtggaggac ggcgatggat ccagccagtc
     1981 ttcctcagca ctggtgcaca agccatccgc taacaagtgg agtccctcca aatctgtgac
     2041 aaaaccagtt gccaaagaaa gcaaagctga gccaaaagct aagaagtctg aacttgctat
     2101 accaaagaat ccagcaagca acgattcatg ccctgctttg gaaaaagaag ccaattcagg
     2161 ccctaattca atcatgattg tccttgtcat gctgttgaat atcgggttgg ccattctttt
     2221 tgttcacttt ctaacttgat tggaattagg aaagtgaagt cctgacaact agtggtgtgt
     2281 tagcccacag ttctctgcag tggtgccgtc agccctttaa atggcccacc ccaggcagac
     2341 tcagacacag ggaaggaggc ttggaattag gatgggatcg cgagagagat gaaacttgga
     2401 aaattcagcc agaggacctg ttcggttccc ctgggagtgc tttgtggctt tggggtcctc
     2461 tgggagctga agcacacggc catgttggag agcaaaactt aataataatt cttttttaaa
     2521 atctgctgaa gcagccccat ccggcgaagt tcttggcatt ggctactcca tctgtcctag
     2581 cagagtgtga ctaaactgga aatgtatgga gctgcatttt tttttttttt ttgatggaag
     2641 tcaacagctg ccttactatt ttaccatctg acgtttttag tagggagctg gggaaacgac
     2701 tgcccgagga atgcggtcgg aggattgtgt tgctgtggac gtggttccaa cattcactcc
     2761 tatctcatta gaagaaatag gtagcagcat cactcaccag tcttatgcca tgacctgctg
     2821 ctttaacatc tcctggaatg ttctgggaga gaacgtttcg tttgcttgtg cacgactctg
     2881 ttcatttttg ctgtttattt aaatctgacg tatagtcatc taccacctgc ggtcctggcc
     2941 ggacgaaaca cacgtgttgc atctcaagga aaagaaacaa caaaatgcta gtgaaaatgt
     3001 gcttattttg atagcaatat accatctttt atgtcattta ttcttcctat acttgtaaaa
     3061 ggttatttat ctttaaaatt tagcaatttg aagacactat gccttcctaa gaactaattt
     3121 aattctaaat atttttaaca ttactgaggt gaattattta tgcacttagg aagtgctaaa
     3181 ttttaaaagc tgaaacacaa cagaattcta agaaatatag tccaaacgtt gcatggattg
     3241 cagtaatcag tgtttaaagg attcagtttc tttgctgacg tactttacaa ccaaataaaa
     3301 tcttgtcggt ggctgtgtta attcccatga aagttaagca agatgctatt aataaactgc
     3361 tctgctcttt cttgttttct ttttccaact taaatttctg ttgaatacat tcaggtagaa
     3421 cataaagcct tgttcaatca ctgcctctca gttttctgcc tttcctgttt ttcaaagtcc
     3481 ttttgtaatt tcatttcaca ttttaaaggc ttagacattt ttattttaaa tatgtgtctt
     3541 ttacagtctt ttgtcattct gacatttctg gatttttgct gttttataat ttaccctttg
     3601 ttattcagaa gcatgcttac ttatagaaac taaatggtct ttataaaagt aattacttaa
     3661 aaagaaatca ggggaagaaa gatatctatc taatctatta aatctttata aaacattaca
     3721 ttgcagaggg ggagctactc ctaaatattt tcatgatttg catggtttaa tcagattttt
     3781 tttttttttt acaccatatt agctaccttt tcaatggaga agagacagtt cacacaattc
     3841 cctggttagc acagatgtgg actgagtgct ttgtcacctg cagggtagta acccagtgat
     3901 gtttcttaca gaagcacaat atgttgaaaa tcctgggtgt gaccaatatg gaataaagaa
     3961 gaaggcagaa agagagcaaa tgaaaaattt caacttgtat attcattttt tacattttgc
     4021 tttgactttt aaatttagga agtccgtttt tacctgagaa caaatgttta aagttcctgc
     4081 gtcactctca gtactctcac tgcccctccc aaaccctata gctccttacg ctgggaaagc
     4141 tggtttttta aaaaaataat aataaaatat ttaatcttat taagtgttca tttaaaatgc
     4201 gtaatgcttt ggaaataatg ggtaacagat agcgagagga tatgtttata aagtgagcat
     4261 gttggtccca tttataaata tatgtatgat ttataagctt ttttaaaaca aagctcaaat
     4321 tgttggtatt tttctaaaat gtgcacagct gtattttaca tgaaggctct ttctaatggg
     4381 ttgttatact gtactcaaca ttttggacag cacatgaagt ctgccaatgt acttaataaa
     4441 acatgacttt gtttatttaa agtttcttgc tgtgaaaaag aactccctac ctgtgagttc
     4501 ctttatttat aattcttgaa accaaaatgt ataatgtaca gttttcacaa ctgtatctgc
     4561 tctaataaaa aaaagttggt tattaatgaa
//
