LOCUS       NM_020655               4382 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens junctophilin 3 (JPH3), transcript variant 1, mRNA.
ACCESSION   NM_020655
VERSION     NM_020655.4
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 4382)
  AUTHORS   Steel,D., Vezyroglou,A., Barwick,K., Smith,M., Vogt,J.,
            Gibbon,F.M., Cross,J.H. and Kurian,M.A.
  TITLE     Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are
            Associated with a Paroxysmal Movement Disorder
  JOURNAL   Mov Disord 38 (1), 155-157 (2023)
   PUBMED   36273396
  REMARK    GeneRIF: Both Heterozygous and Homozygous Loss-of-Function JPH3
            Variants Are Associated with a Paroxysmal Movement Disorder.
REFERENCE   2  (bases 1 to 4382)
  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 4382)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 4382)
  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   5  (bases 1 to 4382)
  AUTHORS   Holmes,S.E., O'Hearn,E., Rosenblatt,A., Callahan,C., Hwang,H.S.,
            Ingersoll-Ashworth,R.G., Fleisher,A., Stevanin,G., Brice,A.,
            Potter,N.T., Ross,C.A. and Margolis,R.L.
  TITLE     A repeat expansion in the gene encoding junctophilin-3 is
            associated with Huntington disease-like 2
  JOURNAL   Nat Genet 29 (4), 377-378 (2001)
   PUBMED   11694876
  REMARK    Erratum:[Nat Genet 2002 Jan;30(1):123]
REFERENCE   6  (bases 1 to 4382)
  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   7  (bases 1 to 4382)
  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
REFERENCE   8  (bases 1 to 4382)
  AUTHORS   Margolis,R.L., Abraham,M.R., Gatchell,S.B., Li,S.H., Kidwai,A.S.,
            Breschel,T.S., Stine,O.C., Callahan,C., McInnis,M.G. and Ross,C.A.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
REFERENCE   9  (bases 1 to 4382)
  AUTHORS   Anderson,D.G., Krause,A. and Margolis,R.L.
  TITLE     Huntington Disease-Like 2
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301701
REFERENCE   10 (bases 1 to 4382)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092720.4, AB593088.1,
            BC036533.2, AK295518.1, AW954561.1 and BQ014355.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020655.3.
            
            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. CAG/CTG repeat expansion from
            normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene
            have been associated with Huntington disease-like 2 (HDL2). This
            gene is a member of the junctophilin gene family. Alternatively
            spliced transcript variants have been described for this gene.
            [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BC036533.2, AB042636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284262.3/ ENSP00000284262.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-379               AC092720.4         132930-133308
            380-397             AB593088.1         1-18
            398-1765            BC036533.2         1-1368
            1766-3028           AK295518.1         841-2103
            3029-3549           AW954561.1         120-640
            3550-4369           BC036533.2         3153-3972
            4370-4382           BQ014355.1         16-28               c
FEATURES             Location/Qualifiers
     source          1..4382
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     gene            1..4382
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /note="junctophilin 3"
                     /db_xref="GeneID:57338"
                     /db_xref="HGNC:HGNC:14203"
                     /db_xref="MIM:605268"
     exon            1..1021
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /inference="alignment:Splign:2.1.0"
     CDS             640..2886
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     junctophilin type 3; trinucleotide repeat containing 22"
                     /codon_start=1
                     /product="junctophilin-3 isoform 1"
                     /protein_id="NP_065706.2"
                     /db_xref="CCDS:CCDS10962.1"
                     /db_xref="GeneID:57338"
                     /db_xref="HGNC:HGNC:14203"
                     /db_xref="MIM:605268"
                     /translation="MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWS
                     HGFEVLGVYTWPSGNTYQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAG
                     NGAKYEGTWSNGLQDGYGTETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPL
                     RTSINSLRSEHTNGTALHPDASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRS
                     LLSGLKLRKSESKSSLASQRSKQSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVI
                     EDDIDATTTETYVGEWKNDKRSGFGVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKE
                     EGKYKQNILVGGKRKNLIPLRASKIREKVDRAVEAAERAATIAKQKAEIAASRTSHSR
                     AKAEAALTAAQKAQEEARIARITAKEFSPSFQHRENGLEYQRPKRQTSCDDIEVLSTG
                     TPLQQESPELYRKGTTPSDLTPDDSPLQSFPTSPAATPPPAPAARNKVAHFSRQVSVD
                     EERGGDIQMLLEGRAGDCARSSWGEEQAGGSRGVRSGALRGGLLVDDFRTRGSGRKQP
                     GNPKPRERRTESPPVFTWTSHHRASNHSPGGSRLLELQEEKLSNYRMEMKPLLRMETH
                     PQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQNKENFRPASSAEPAVQKLASLR
                     LGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKSSTGSAPILVVMVILLNIGVA
                     ILFINFFI"
     exon            1022..1799
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1924
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2805
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /inference="alignment:Splign:2.1.0"
     exon            2806..4382
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4349..4354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /note="hexamer: AATAAA"
     regulatory      4354..4359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /note="hexamer: ACTAAA"
     polyA_site      4369
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
     polyA_site      4382
                     /gene="JPH3"
                     /gene_synonym="CAGL237; HDL2; JP-3; JP3; TNRC22"
                     /note="major polyA site"
ORIGIN      
        1 gagcgcgcga gccgggcccg gagcgcacgc cgccgccgcc accgccgccg ccgccgcccg
       61 agccgccgca ttgctgctgc tgctgccgcc gccgccccgc gcccggcccg cggcccccaa
      121 tatggtgcag ccgccagcgc cgccgcccgt gccgccgccg ccgcccgcgg gccccgccgc
      181 cgccctcggg cgcccgcagc gcggcagccg caggtggggg gccgcggccc gggcctgagc
      241 tgccccccgc ccggcctcgg cgcggcgccc tccccgcggg gctgccggcg aggggccctc
      301 tcgccgctga ggtggagccg cgggccccgc cgccgccgct cctgccccct ccctccctcc
      361 tcccctcccc ctcccctccg gtcctgtctc cagcgggagc gcgagacgct ggtcaggctc
      421 cgcggcgcag ctcgaaaagg aataatcgcc cccgattgac tgaaattcct ccggagccgg
      481 cgccgcggcc gcccgcgccc gagaccgcgc tccggggccg cgtcctcctc tcctccggaa
      541 aacgctcgcg acccagggcc gccggcggcc gcgactctgc tgtgtcgatc gcctgagtcc
      601 gttttcaccg tttgcgggat ctggaaccga gttacatgca tgtccagtgg gggcaggttt
      661 aattttgacg acggagggtc ctactgtgga ggctgggagg acggcaaggc gcacggccat
      721 ggcgtctgca ccggccccaa gggccaaggc gaatacaccg gctcgtggag ccacggcttc
      781 gaggtgctgg gcgtctacac ctggcccagc ggcaacacgt accagggcac ctgggcgcag
      841 ggcaagcgcc acggcatcgg cctggagagc aaggggaagt gggtgtacaa gggcgagtgg
      901 acgcacggat tcaaggggcg ctacggggtg cgggagtgcg cgggcaacgg ggccaaatac
      961 gaagggacct ggagcaacgg gctgcaggac ggctacggga ccgagaccta ctcggacgga
     1021 gggacctacc agggccagtg ggtcggtggc atgcgccagg gctacggcgt ccggcagagc
     1081 gtcccgtatg gcatggccgc ggtcatccgc tcacccctga ggacgtccat caactccctg
     1141 cgcagcgagc acaccaacgg cacggcgctg catcccgacg cctctccggc ggtggccggc
     1201 agcccggccg tgtcccgcgg gggcttcgtg ctcgtggccc acagtgactc cgagatcctc
     1261 aagagcaaga agaaggggct gtttcggcgc tcgctgctga gtgggctgaa gctgcgcaag
     1321 tcggagtcca agagcagcct ggccagccaa cgcagcaagc agagctcctt tcgcagcgag
     1381 gcgggcatga gcaccgtcag ctccacggcc agcgacatcc actccaccat cagcctgggc
     1441 gaggctgagg ccgagctggc ggtcatcgag gacgacatcg acgccaccac caccgagacc
     1501 tacgtgggcg agtggaagaa cgacaaacgc tccggcttcg gcgtgagcca gcgctcggac
     1561 gggctcaagt acgagggcga gtgggccagc aaccggcgcc atggctacgg ctgcatgacc
     1621 ttcccggacg gcaccaagga ggagggcaag tacaagcaga acatcctcgt cggcggcaag
     1681 cgcaagaacc tcatccccct gcgggccagc aagatccgcg agaaggtgga ccgcgccgtt
     1741 gaggccgctg agcgggccgc caccatcgcc aagcagaagg ctgagatcgc ggcttccagg
     1801 acctcccact ctcgggcaaa ggccgaggca gccctcacag cagctcagaa agcccaggag
     1861 gaggcgcgga tcgccaggat cactgccaaa gagttctccc cttccttcca gcaccgggaa
     1921 aacgggctgg agtaccagag gccgaagcgt cagacctcct gtgacgacat cgaggtgctg
     1981 tccaccggga cacccctgca gcaggagagc cccgagctgt accgcaaggg caccactccc
     2041 tccgacctga cccccgacga cagccccctg cagagcttcc ccaccagccc cgcggccacc
     2101 ccgccgcccg cgcccgccgc caggaacaag gtcgcccact tctcgaggca ggtgtcggtg
     2161 gacgaggagc ggggcgggga catccagatg ctcctggagg gccgggccgg ggactgcgcc
     2221 cgcagcagct ggggcgagga gcaggccggg ggctccaggg gtgtccgcag cggtgccctg
     2281 cgcggcggcc tgctcgtgga tgacttccgc acccgaggtt cgggccgcaa gcagcccggg
     2341 aaccccaagc cgcgggagcg gcggacggag tcaccccccg tgttcacgtg gacttcccac
     2401 caccgggcca gcaaccacag ccccggaggc tccaggctgc tggagctgca ggaggagaag
     2461 ctgagcaact accggatgga gatgaaaccc ttgctgagga tggagacgca tccccagaaa
     2521 agacgctaca gcaagggcgg cgcctgccgg ggcttggggg acgaccaccg ccccgaggac
     2581 cggggcttcg gggtgcagag actgcggtcc aaggcccaga acaaggagaa cttcaggccg
     2641 gcctcctccg cggagcccgc cgtgcagaaa ctggcgagcc tgcggctggg cggggccgag
     2701 ccccggttgc tgcgttggga cttgaccttc tccccgcccc agaaatcctt gcctgtcgct
     2761 ctagagtccg acgaggagaa tggggatgag ctcaagtcca gtacgggctc agcgcctatc
     2821 ctggtggtca tggtgatctt gctcaacatc ggagtcgcca ttctgtttat taactttttc
     2881 atctgatgag atgtcgcggt agcaaaaata gagaaagggt agaaaaaagg gacattaaaa
     2941 ttaaaagcaa aaccacaaga agggaaagac cgcaactcgg acagcccagc gacttccaag
     3001 tcctctcaca gaagaaccac acgattgggt atcactcaca gtttgccttt ttttctgggt
     3061 aatgtttttt ggattttagc caaaattctt tgcttgtata acactctgct gtgtggcatg
     3121 gcagaaggag gccagcacgc agcccctcca gctccacgtg gagacagaag ggatcccggc
     3181 acatcagtgg taacagcgga cgttgtcctc gtggtcacac gtcccgtctt gggtgtggat
     3241 ggagggcagc ccggggcaga gcctcagccc cgcggcccct gagtggcagg gctgactccc
     3301 gtcgacacga gcttagaaag tggattcact gctttctctg tctagaacag acgggtgaca
     3361 agtatgggca ggaggcatgg ggcagggtgg cccaccccag tgggcagtag cctggccttt
     3421 ttctgtgtga gatctgtgct gcacacctga gggaggggga gggatcggcc acctcctccc
     3481 tgtgagacgg atgcaggtcc ttccctcttc tcggcactgc ccccggcctt ccatgagaag
     3541 ccgactcccc acaccgagtt ttaaagcaaa gcccttttct tctgctgccc actcactgtg
     3601 ggtcccattc ggctgtttcc cccaccagac cccagggaag ccggggccca ctccgatccg
     3661 cctgggctca gctaagcacg gaagccaagg gggctgtgcc gtggagctgg gctcgcgccg
     3721 gggctctggg tgtgtgcgct tggcgtgcag ggtggacgcg tggggttccg tgtccccagc
     3781 agtgagggcc ctagaggacg ccttctccca tggttactga tctccacggg ttttcacatc
     3841 tctgtactgt gcctgcctca acttccccta acagatatgc atattccttc cagatgcctc
     3901 agtgctacac cacagtgggc ctggtcccag gacaggaatg cggttcaaac ccagtggctt
     3961 gaaacttcct gagaaactgt agcatatcca gccccctaaa atgtacaatg taacttgttc
     4021 agtccaacaa aaacaggttc cttatgtttc tgccttctcc accagggtcg ctccatcacc
     4081 caaacaaaag aacaaggttt gccaggatgt ccgagtgccc cctggccctg gctctcgtgt
     4141 gcatggacgt gcctgagggg tccgggcacg gccatacgca ggacccctgt gcccggggag
     4201 gcgctgcagg gattccccat ccggtcgtct tggggccagc ccgtcttatg gactctgcct
     4261 tgctttgctt atgtttagct gtttctctgc tacctttcga gcagacttct ttactacact
     4321 gcactggatt gctatatttt taaccagaaa taaactaaag attagagcat gttccagtta
     4381 aa
//
