LOCUS       NM_001122853            3427 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.
ACCESSION   NM_001122853
VERSION     NM_001122853.3
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 3427)
  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 3427)
  AUTHORS   Aurino,S., Piluso,G., Saccone,V., Cacciottolo,M., D'Amico,F.,
            Dionisi,M., Totaro,A., Belsito,A., Di Vicino,U. and Nigro,V.
  TITLE     Candidate-gene testing for orphan limb-girdle muscular dystrophies
  JOURNAL   Acta Myol 27 (3), 90-97 (2008)
   PUBMED   19472918
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 3427)
  AUTHORS   Frey,N. and Olson,E.N.
  TITLE     Calsarcin-3, a novel skeletal muscle-specific member of the
            calsarcin family, interacts with multiple Z-disc proteins
  JOURNAL   J Biol Chem 277 (16), 13998-14004 (2002)
   PUBMED   11842093
  REMARK    GeneRIF: Calsarcin-3, a novel skeletal muscle-specific member of
            the calsarcin family, interacts with multiple Z-disc proteins.
REFERENCE   4  (bases 1 to 3427)
  AUTHORS   Faulkner,G., Pallavicini,A., Formentin,E., Comelli,A.,
            Ievolella,C., Trevisan,S., Bortoletto,G., Scannapieco,P.,
            Salamon,M., Mouly,V., Valle,G. and Lanfranchi,G.
  TITLE     ZASP: a new Z-band alternatively spliced PDZ-motif protein
  JOURNAL   J Cell Biol 146 (2), 465-475 (1999)
   PUBMED   10427098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB054183.1, AJ300586.1,
            BP360917.1 and AA969304.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001122853.2.
            
            Summary: The protein encoded by this gene is specifically expressed
            in the skeletal muscle, and belongs to the myozenin family. Members
            of this family function as calcineurin-interacting proteins that
            help tether calcineurin to the sarcomere of cardiac and skeletal
            muscle. They play an important role in modulation of calcineurin
            signaling. [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF480443.1, BC069380.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000517768.6/ ENSP00000428815.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-193               DB054183.1         382-574
            194-658             AJ300586.1         219-683
            659-659             BP360917.1         205-205
            660-3422            AJ300586.1         685-3447
            3423-3427           AA969304.1         5-9                 c
FEATURES             Location/Qualifiers
     source          1..3427
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     gene            1..3427
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /note="myozenin 3"
                     /db_xref="GeneID:91977"
                     /db_xref="HGNC:HGNC:18565"
                     /db_xref="MIM:610735"
     exon            1..177
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            178..239
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..934
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /note="calsarcin-3; FATZ-related protein 3"
                     /codon_start=1
                     /product="myozenin-3"
                     /protein_id="NP_001116325.1"
                     /db_xref="CCDS:CCDS4309.1"
                     /db_xref="GeneID:91977"
                     /db_xref="HGNC:HGNC:18565"
                     /db_xref="MIM:610735"
                     /translation="MIPKEQKGPVMAAMGDLTEPVPTLDLGKKLSVPQDLMMEELSLR
                     NNRGSLLFQKRQRRVQKFTFELAASQRAMLAGSARRKVTGTAESGTVANANGPEGPNY
                     RSELHIFPASPGASLGGPEGAHPAAAPAGCVPSPSALAPGYAEPLKGVPPEKFNHTAI
                     SKGYRCPWQEFVSYRDYQSDGRSHTPSPNDYRNFNKTPVPFGGPLVGGTFPRPGTPFI
                     PEPLSGLELLRLRPSFNRVAQGWVRNLPESEEL"
     exon            240..394
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            395..448
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            449..602
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            603..765
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            766..3427
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1501..1506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /note="hexamer: AATAAA"
     polyA_site      1536
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
     regulatory      3402..3407
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /note="hexamer: AATAAA"
     polyA_site      3427
                     /gene="MYOZ3"
                     /gene_synonym="CS-3; CS3; FATZ-3; FRP3"
                     /note="major polyA site"
ORIGIN      
        1 aatgattctc atcagctgaa gccagagctg gctgcagggg acaccctgct cgctgcctac
       61 tgactgctga ccgctgactg cctacaggga cgccacgcaa ctctcagctt cccgacagag
      121 gtgttaatct tgagggtcta agattccctc ctgcctattg tggtcccatc ctctcaggat
      181 gatccccaag gagcagaagg ggccagtgat ggctgccatg ggggacctca ctgaaccagt
      241 ccctacgctg gacctgggca agaagctgag cgtgccccag gacctgatga tggaggagct
      301 gtcactacgc aacaacagag ggtccctcct cttccagaag aggcagcgcc gtgtgcagaa
      361 gttcactttc gagttagcag ccagccagcg ggcgatgctg gccggaagcg ccaggaggaa
      421 ggtgactgga acagcggagt cggggacggt tgccaatgcc aatggccctg aggggccgaa
      481 ctaccgctcg gagctccaca tcttcccggc ctcacccggg gcctcactcg ggggtcccga
      541 gggcgcccac cctgcagccg cccctgctgg gtgcgtcccc agccccagcg ccctggcgcc
      601 aggctatgcg gagccgctga agggcgtccc gccagagaag ttcaaccaca ccgccatctc
      661 caagggctac cgctgccctt ggcaggagtt cgtcagctac cgggactacc agagcgatgg
      721 ccgaagtcac acccccagcc ccaacgacta ccgaaatttc aacaagaccc cggtgccatt
      781 tggaggaccc ctcgtggggg gcacttttcc caggccaggc acccccttca tcccggagcc
      841 cctcagtggc ttggaactcc tccgtctcag acccagcttc aacagagtgg cccagggctg
      901 ggtccgtaac ctcccagagt ccgaggagct gtagccctag cctgaatctt cagttcccca
      961 gtctcggggg cctggtaaca tccggagcca agacttgtgg acagcacttc acagttgaag
     1021 aagggccttc acacacaaaa cctgattgca aatggcttca gaggtcacca agttcagtcg
     1081 tcccaaaaca tgggtgtgtt tcaaaattac ctggggatgt tgttccaaat ccagacaact
     1141 ggactgtccc agacttgcag catcagagtc tcctgagtcg aggaatctgt attattaata
     1201 gcaaccaggg ccgggtgtcg tggctcacgc ctgtcatccc agcactttgg gaggccgagg
     1261 caggaggatc acctgaggtc aggagtttga gaccagtctg gccaaaatag tggaaccccg
     1321 tcgctactaa aaatacaaaa atgagtcgga catggtggtg catgcctgta atcccagcta
     1381 cttgggaggc tgagacagga gaatcacttg aactaggagg cagaggttgc agtgagccga
     1441 gattgcgcca ctgcacccca gcctggacaa cagagtgaga ctccttctca aaagtaaata
     1501 aataaatagc aaccagtact ccaggtgatt ccagcataac ttatccatgg tttgtgtcat
     1561 taggagtcca catccacacc tctgctcttt cctgttcctg tagtgtacac tcccccggtg
     1621 acagggtgct cactggcacc ccatcttcct gtgaataact caaataatta gaaaatgttc
     1681 cttttactga gatgcagttg gtcttcatct attcatgctc taaacagttc ctaagcgctg
     1741 actgtgcgct agacactgcc aggcccgggc ctcgaggagg aaaagacagt agggaagaca
     1801 ttatagagca tgaagtcacc ataattttcc ctaaagcatg cttattgaca attgaggaac
     1861 aaagtgttgt ggagcagaag aaggagtccc tcaccctagg tgtgagatgg gattctggaa
     1921 gcttcctgaa ggatttgagt gggaccttgt gggaggcgtg agagtccatg aagggggtgt
     1981 gagggggagg gtatttctgg aaagtggacc agcatgtgca aaaatatgga actgagcacg
     2041 ggtgcagggt gttctgcaga agggagaagg ctgtgctaga ggagccagtg agggccagca
     2101 tggggtgggc ttcactaagg aaatggggaa ggttttagtg atgggtcttg ctgggtgctg
     2161 tgtggggcgc atattggaga agggtaatgc cagaagccag gaagcctgca agggatgagg
     2221 ccatgggaat ggagagaagg ggccacccac tgggcaccta acaggacagg tgcaaagtgg
     2281 ggtgcttatt aagattcctt ctttccactc cattttgagc aggctgctta aagtggtggt
     2341 gatgatgatg atgatgatgg cagctttata tcgagtgcct cagtgcttgg gctggtagta
     2401 gtttctctac atatcttatt tctaattctc agaacaaccc tgagagaaag atattgttgt
     2461 ccccacttta cagatgtgga tatttaggcc aaaaggagga agtgacttgt ccaggggcag
     2521 acaccaaatg ggaatctgat tccagtggat gtctcttttc agtgcactgg gtggtcaatg
     2581 cccactcgct ctgaaatcat ctgactgtga tgccctgcct tggagtttag aagttgagtg
     2641 caggcttggg agtcagactg gatggggtag gttctaactc tgccactgct agccggatga
     2701 acttgagcaa gtcatttcac atctccgagc ctctgtttct ccaagtgtaa gatgaggaca
     2761 agtataaaac ctcctttatg ggtttgttgt gaacacagtg cagggcacat ttataataag
     2821 agctcagtca atggtaggtt tcatgcaact gctgctctag gctggaaaag ttgttcttgc
     2881 actggatgca gcatgagaag ctggctgcta agatgtcact gggggtcact aaagctgaag
     2941 cctgaaggaa agcctctcat tgctgtagag ctctccctgc ctctctctct gggggcgatg
     3001 gggaaggtca ggagtccagc ccattcccag ggtgtgtggg atagcgattg cattttcctt
     3061 ttgctctgga gtttcactcc ccttctgggt cccaagggcc caatggcctg acttttagaa
     3121 ttgcttgcaa ttggtgtttt ctcttgaatt tgggggctgc catttaaagc caggtttcca
     3181 tgagctgaag accagccatt caagaatctg aaaagtagac aagaggactc cagttgcctc
     3241 aggttggttc tgctgtgctc tggaaagtaa ctgcagccac caggtatgaa aaggagcctg
     3301 gtggggagac cactgcaccc aaaacaaatc ctttcttctt ctgagaatgt gactttttct
     3361 ggtgttgtaa aaaagaaaaa aaaaagaatg ctcattgtaa aaataaaaaa ataataataa
     3421 gcaagga
//
