LOCUS       NM_020604               4809 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus junctophilin 1 (Jph1), mRNA.
ACCESSION   NM_020604 XM_003086142
VERSION     NM_020604.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4809)
  AUTHORS   Ashida,Y., Himori,K., Tokuda,N., Naito,A., Yamauchi,N.,
            Takenaka-Ninagawa,N., Aoki,Y., Sakurai,H. and Yamada,T.
  TITLE     Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1
            from dihydropyridine receptor in dystrophin-deficient muscles
  JOURNAL   Am J Physiol Cell Physiol 323 (3), C885-C895 (2022)
   PUBMED   35912995
  REMARK    GeneRIF: Dissociation of SH3 and cysteine-rich domain 3 and
            junctophilin 1 from dihydropyridine receptor in
            dystrophin-deficient muscles.
REFERENCE   2  (bases 1 to 4809)
  AUTHORS   Rossi,D., Scarcella,A.M., Liguori,E., Lorenzini,S., Pierantozzi,E.,
            Kutchukian,C., Jacquemond,V., Messa,M., De Camilli,P. and
            Sorrentino,V.
  TITLE     Molecular determinants of homo- and heteromeric interactions of
            Junctophilin-1 at triads in adult skeletal muscle fibers
  JOURNAL   Proc Natl Acad Sci U S A 116 (31), 15716-15724 (2019)
   PUBMED   31315980
  REMARK    GeneRIF: Molecular determinants of homo- and heteromeric
            interactions of Junctophilin-1 at triads in adult skeletal muscle
            fibers.
REFERENCE   3  (bases 1 to 4809)
  AUTHORS   Nakada,T., Kashihara,T., Komatsu,M., Kojima,K., Takeshita,T. and
            Yamada,M.
  TITLE     Physical interaction of junctophilin and the CaV1.1 C terminus is
            crucial for skeletal muscle contraction
  JOURNAL   Proc Natl Acad Sci U S A 115 (17), 4507-4512 (2018)
   PUBMED   29632175
  REMARK    GeneRIF: Physical interaction of junctophilin and the CaV1.1 C
            terminus is crucial for skeletal muscle contraction.
REFERENCE   4  (bases 1 to 4809)
  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
REFERENCE   5  (bases 1 to 4809)
  AUTHORS   Reynolds,J.O., Chiang,D.Y., Wang,W., Beavers,D.L., Dixit,S.S.,
            Skapura,D.G., Landstrom,A.P., Song,L.S., Ackerman,M.J. and
            Wehrens,X.H.
  TITLE     Junctophilin-2 is necessary for T-tubule maturation during mouse
            heart development
  JOURNAL   Cardiovasc Res 100 (1), 44-53 (2013)
   PUBMED   23715556
REFERENCE   6  (bases 1 to 4809)
  AUTHORS   Nishi,M., Sakagami,H., Komazaki,S., Kondo,H. and Takeshima,H.
  TITLE     Coexpression of junctophilin type 3 and type 4 in brain
  JOURNAL   Brain Res Mol Brain Res 118 (1-2), 102-110 (2003)
   PUBMED   14559359
  REMARK    GeneRIF: We report a novel Junctophilin subtype, JP-4, encoded in
            the human (chromosome 14q11.1) and mouse (chromosome 14C1-2)
            genomes. JP-4 shares characteristic structural features with other
            JP subtypes, and is found in the brain.
REFERENCE   7  (bases 1 to 4809)
  AUTHORS   Komazaki,S., Nishi,M. and Takeshima,H.
  TITLE     Abnormal junctional membrane structures in cardiac myocytes
            expressing ectopic junctophilin type 1
  JOURNAL   FEBS Lett 542 (1-3), 69-73 (2003)
   PUBMED   12729900
  REMARK    GeneRIF: Abnormal junctional membrane structures in cardiac
            myocytes in transgenic mice expressing junctophilin type 1.
REFERENCE   8  (bases 1 to 4809)
  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 4809)
  AUTHORS   Ito,K., Komazaki,S., Sasamoto,K., Yoshida,M., Nishi,M., Kitamura,K.
            and Takeshima,H.
  TITLE     Deficiency of triad junction and contraction in mutant skeletal
            muscle lacking junctophilin type 1
  JOURNAL   J Cell Biol 154 (5), 1059-1067 (2001)
   PUBMED   11535622
REFERENCE   10 (bases 1 to 4809)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC120839.1 and AC135017.3.
            
            On or before Oct 18, 2011 this sequence version replaced
            XM_003086142.1, NM_020604.1.
            
            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 :: BC120839.1, AB024445.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2383              BC120839.1         1-2383
            2384-4809           AC135017.3         167560-169985       c
FEATURES             Location/Qualifiers
     source          1..4809
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 5.17 cM"
     gene            1..4809
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /note="junctophilin 1"
                     /db_xref="GeneID:57339"
                     /db_xref="MGI:MGI:1891495"
     exon            1..664
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /inference="alignment:Splign:2.1.0"
     CDS             286..2268
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /note="junctophilin type 1; mitsugumin72"
                     /codon_start=1
                     /product="junctophilin-1"
                     /protein_id="NP_065629.1"
                     /db_xref="CCDS:CCDS14833.1"
                     /db_xref="GeneID:57339"
                     /db_xref="MGI:MGI:1891495"
                     /translation="MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSH
                     GFEVVGVYTWPSGNTYQGYWAQGKRHGLGVETKGKWMYRGEWSHGFKGRYGVRQSLCT
                     PARYEGTWSNGLQDGYGVETYGDGGTYQGQWAGGMRHGYGVRQSVPYGMATVIRSPLR
                     TSLASLRSEQSNGSVLHEAAAAAADSPAGTRGGFVLNFHADTELGKKKGGLFRRGSLL
                     GSMKLRKSESKSSISSKRSSVRSDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDAT
                     TTETYMGEWKNDKRNGFGISERSNGMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNN
                     ILVRGIRKQLIPIRNTKTREKVDRAIEGAQRAAAMARTKVEIANSRTAHARAKADAAD
                     QAALAARQECDIARAVARELSPDFYQPGPDYIKQRCQEGGDIKENPEEKVLEKPPSPK
                     ESPHFYRKGTTPPRSPESSPKQSHSPQPSSPEPSKKQNPSPGARLSQDKQSLAEEQVT
                     AFVNKPSMSKAPAKELGASVSKYSGRHHVPNPSNGELHSQYHGYYVKLNTPQHPPEDR
                     EDDRGVSQSSSALVPRPSPNKWGPPKSVTKPVAKESKTEPKAKKSELAIPKNPASNDT
                     CPSLEKEANSGPNSIMIVLVMLLNIGLAILFVHFLT"
     exon            665..1424
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1543
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..2187
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /inference="alignment:Splign:2.1.0"
     exon            2188..4809
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4784..4789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /note="hexamer: AATAAA"
     polyA_site      4809
                     /gene="Jph1"
                     /gene_synonym="JP-1; Jp1"
                     /note="major polyA site"
ORIGIN      
        1 gggtgggagc agctgaaagt ccgctctgga gactgggctg tcctctcgcg cgcggcgctg
       61 gccggggcgg cggcgaagga ggagggagag aggcggcggt ggcgacggcg aaagaggagg
      121 ggaagacggg ggcggcgtcg gactggagcc gatcggcggt gcgagctgcc cggggcgcag
      181 tcgtgagctc gcccgacggg cccctacccc ggagctacac cctgcggtgc ccagctctgc
      241 ccacgtttgt gcccccacga ggagcgcgcc ggggctgccc cccgaatgac gggcggaagg
      301 ttcgacttcg acgatggcgg cacctactgc ggcggctggg aggagggcaa ggcgcacggg
      361 catggcatct gcacggggcc caagggccag ggcgagtact ctggctcctg gtcgcacggc
      421 ttcgaggtgg ttggagtcta cacctggccc agcggcaaca cctaccaggg ctactgggcg
      481 cagggcaagc ggcacgggct gggggtggag acgaagggca agtggatgta ccggggggag
      541 tggtcacatg gtttcaaggg gcgctacggg gtccggcaga gcttgtgcac ccccgcccgc
      601 tacgagggga cctggagtaa cgggctgcag gacgggtacg gcgtggagac ctacggggat
      661 ggaggtacct accagggcca gtgggctgga ggcatgcggc atggctacgg tgtccgccag
      721 agtgtgccct atggcatggc cacagtgatc cgttccccgc tgcgcacttc cctggcctcg
      781 ctgcgcagtg agcagagcaa cggcagcgtg ctgcatgaag ctgcagccgc agctgcagac
      841 agcccggctg gaacaagagg tggcttcgtg ctcaacttcc atgcggacac ggaactgggc
      901 aagaagaagg gcggcctctt ccgtcggggt tcccttctcg gcagcatgaa actccgcaag
      961 tccgaatcca agtcttccat ctccagcaag cgcagctcgg tccgcagtga tgcagccatg
     1021 agcagaatca gttctagcga tgccaactcc accatcagct ttggtgacgt cgactgtgat
     1081 ttttgccccg tggaagatca cgtggatgcc actaccacgg aaacctacat gggcgagtgg
     1141 aagaacgata agcgcaatgg cttcggcatc agcgaacgct ccaatggcat gaagtacgaa
     1201 ggcgagtggg ccaataacaa gaggcatggg tacggctgca ctgtgtttcc tgatggctcc
     1261 aaagaagagg gaaaatacaa aaataatatc ctggtccgtg ggataaggaa gcagcttata
     1321 ccaataagaa atacaaaaac tagagagaag gtggatagag caattgaagg tgcacaaagg
     1381 gcggcagcca tggccagaac caaagtggaa atagcaaact caaggactgc acatgccaga
     1441 gcaaaagctg atgctgccga ccaagctgca ctggctgctc gccaggagtg cgacatagca
     1501 agagctgtgg ccagagagct gtcacctgat ttctaccaac caggccccga ttatatcaaa
     1561 caaagatgtc aggaaggggg agatattaaa gaaaatccag aagaaaaggt cctagaaaag
     1621 cctccgtcac caaaggaatc tcctcatttt tatcgcaaag gcaccacacc ccccaggtct
     1681 cctgagtcaa gtcccaaaca gagccactct ccccagcctt cctccccaga gccctcaaag
     1741 aaacaaaacc ccagcccagg ggcaagactc agtcaagata aacagagcct agctgaggaa
     1801 caagtgacag cctttgtcaa taaaccctct atgtcaaagg ctcccgcaaa agaattggga
     1861 gcatctgtgt ccaagtactc tggccgccac catgtcccca accccagcaa cggggagctg
     1921 cactctcagt atcacggcta ctatgtgaaa ctgaacacac cccagcatcc tccagaagac
     1981 agggaggatg acagaggagt cagccagtct tcctcagcat tggtacctag accatcacct
     2041 aacaagtggg gtccccctaa atctgtgaca aaaccagttg ccaaagaaag caaaactgag
     2101 ccaaaagcaa agaagtctga acttgctata ccaaagaatc cagcaagcaa tgatacctgc
     2161 ccttccttgg aaaaagaagc caactctggc cctaattcca tcatgattgt cctggtcatg
     2221 ctgttgaata ttgggttggc cattcttttt gttcactttc tgacttgatt ggaattagga
     2281 caggtaagca tagccttaat ttctacacat aatcatagta atatcgtttt ctctaattcc
     2341 aatttacaat ttcttttaaa caatggcatt gtccctcact ttaattttga atgtgactca
     2401 gtatggttac ttaactgcta taactgtttc gactcatcag tgaagtcatg acaactagta
     2461 gagttagccc acagttctgc cttggtgtcc acatcccagt ccgactcaga cacaggcaag
     2521 gacgcttaga tcgggatggg atcacaagag agatgaaact tggaaaattc agccagagga
     2581 cctttcacgt cccccagcaa tgctttgtgt ctttggggtc ctctgagagc tgaagcaccc
     2641 agcatggtga aaagcaaaac ttaataatga ttctttttaa aactttttaa aactctgctg
     2701 aagcagcccc atccggcgaa gttctcgacg ttggctactc catctgtcct agcagaatgt
     2761 gactaaactg gaaatgtatg gacctgcaga tttttttttt tttttttgat agaagtcaac
     2821 agctgcctta ctattttacc atctgacgtt tttttagtag ggagctggag agagaggact
     2881 gccagaggaa tgcagtctga ggattgtgtt gcggtgggcg tggctccaac attcactcct
     2941 atctcattag aagtaggtag caccgtcact cagcagtctt ctgctgtgac ctgctgcttt
     3001 aacatctcct ggaatgttct ggaagggaat gtttcatttg cttgtgcacg actctgctca
     3061 tttctgctgt tgatttaaat atgatgtatg tcatcttcca cctgcagtcc tggctggatg
     3121 agaacacact ggaaaagcag caacaaaaga ctagtttata tctatatata tctatatata
     3181 catatatata tatatatata tataaaatgt atgtatgtat gtatatatag tgtttatttt
     3241 aatagcaatg cattgttttc atgttgttta ttctttttaa accaataaag ggttacttat
     3301 ctttaaaata tagtgatctg atggtattat accttccaaa gaaataattt aattttaaat
     3361 atttttaaca tcattgaggt gagttgttga tgcactcagg aggtgttaag ttttaaaagc
     3421 tgaaggacag acaaccgaat actaagaagt gaagtcaaaa tgttgcttgg attgcagtaa
     3481 tcagtggtta cgggttcagt ttcattgctg acgtacgtta caaccaaata aaatcttgtc
     3541 agtggctcta ttaattccca tgaaagttaa gcaagatcta ttaatagcta ctcttctctt
     3601 tctccacccc acccccaacg cgaattttgg ttgaatgcct tcaggtgttt aagctttgtt
     3661 aagtcactgc cccttctctg ccttcaatgt ttttcaaagt tgttttgtaa ttctatatta
     3721 aattttaaag acttagacgg ttttatttta aatatttgtc ttttgctgtc ctatatcatt
     3781 ctgatattga tttttttcta ttaaataatt tattcagaag catgcttact tagggaaact
     3841 acatgatctt tataaaaaat aattatttaa aaagaaatca gggtaggaaa ggtatgtctg
     3901 agtctcttaa aggcattacc tggtggaggg ggaagtcttc ctaacttttg tccatggtgt
     3961 catggtgtca gccgagtctc tcccttagga gcctttgcag agcagaaggg acagtgcgtg
     4021 tcactccact ggcagcacag gggaggactg agtgcttcat caccttctgg atagtaagcc
     4081 agcagtggct tctccagaag ggcgatatat tgagacttta gggtatgacc agtatggatt
     4141 aaggaagaag gcagaaagag agcaaataaa aatcaaatta caacttgtat atttattttt
     4201 tacattttgc tttgactttt aaatttaggg agtccatttt tactcaagag caagctaagt
     4261 tcctctgtcg tccccacagt ctccctgccc cttcctcccc tgtagctcct tatgctggga
     4321 aggctgggtt ttttgttttt gttgttgttg ttgttgttgt tgttgttttt taagaaaata
     4381 gactatttaa tattattaag tgtttattta aatgtgtaat gctttgaaaa taatgggcaa
     4441 cagagaacta aaagatgttt atgaagtgag cttgttggct acatttataa atatatatga
     4501 tttataagct tttttaaaac aatgctcaaa ttgtgggtat ttttctaaaa tgtgcacagt
     4561 tgtattttcc atgaaggatc tttctaatgg gttgttatac tgtactctac attttggaca
     4621 gcacgtgaag tctgccaatg tacttaataa aacatgactt tgtttattta aagtttcttt
     4681 ctgtgaaaaa aaaaaaaacc acctccctac tggtgggttc cttaatttat aatccttgaa
     4741 accaaaatgt ataatgtaca gtttgtacaa ctgtaactgc cctaataaaa atgttggtta
     4801 ttaataaaa
//
