LOCUS       NM_021245               1300 bp    mRNA    linear   PRI 13-APR-2024
DEFINITION  Homo sapiens myozenin 1 (MYOZ1), mRNA.
ACCESSION   NM_021245
VERSION     NM_021245.4
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 1300)
  AUTHORS   Sponga,A., Arolas,J.L., Schwarz,T.C., Jeffries,C.M., Rodriguez
            Chamorro,A., Kostan,J., Ghisleni,A., Drepper,F., Polyansky,A., De
            Almeida Ribeiro,E., Pedron,M., Zawadzka-Kazimierczuk,A., Mlynek,G.,
            Peterbauer,T., Doto,P., Schreiner,C., Hollerl,E., Mateos,B.,
            Geist,L., Faulkner,G., Kozminski,W., Svergun,D.I., Warscheid,B.,
            Zagrovic,B., Gautel,M., Konrat,R. and Djinovic-Carugo,K.
  TITLE     Order from disorder in the sarcomere: FATZ forms a fuzzy but tight
            complex and phase-separated condensates with alpha-actinin
  JOURNAL   Sci Adv 7 (22) (2021)
   PUBMED   34049882
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1300)
  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   3  (bases 1 to 1300)
  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 1300)
  AUTHORS   Lin,H., Dolmatova,E.V., Morley,M.P., Lunetta,K.L., McManus,D.D.,
            Magnani,J.W., Margulies,K.B., Hakonarson,H., del Monte,F.,
            Benjamin,E.J., Cappola,T.P. and Ellinor,P.T.
  TITLE     Gene expression and genetic variation in human atria
  JOURNAL   Heart Rhythm 11 (2), 266-271 (2014)
   PUBMED   24177373
  REMARK    GeneRIF: Our results implicate MYOZ1 as the causative gene at the
            chromosome 10q22 locus for AF.
REFERENCE   5  (bases 1 to 1300)
  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: A large number of variations were found in many of the
            genes (myozenin 1, gamma-filamin, kinectin-1) in patients with
            limb-girdle muscular dystrophies and controls.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1300)
  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
REFERENCE   7  (bases 1 to 1300)
  AUTHORS   Takada,F., Vander Woude,D.L., Tong,H.Q., Thompson,T.G.,
            Watkins,S.C., Kunkel,L.M. and Beggs,A.H.
  TITLE     Myozenin: an alpha-actinin- and gamma-filamin-binding protein of
            skeletal muscle Z lines
  JOURNAL   Proc Natl Acad Sci U S A 98 (4), 1595-1600 (2001)
   PUBMED   11171996
REFERENCE   8  (bases 1 to 1300)
  AUTHORS   Faulkner,G., Pallavicini,A., Comelli,A., Salamon,M., Bortoletto,G.,
            Ievolella,C., Trevisan,S., Kojic',S., Dalla Vecchia,F., Laveder,P.,
            Valle,G. and Lanfranchi,G.
  TITLE     FATZ, a filamin-, actinin-, and telethonin-binding protein of the
            Z-disc of skeletal muscle
  JOURNAL   J Biol Chem 275 (52), 41234-41242 (2000)
   PUBMED   10984498
REFERENCE   9  (bases 1 to 1300)
  AUTHORS   Frey,N., Richardson,J.A. and Olson,E.N.
  TITLE     Calsarcins, a novel family of sarcomeric calcineurin-binding
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14632-14637 (2000)
   PUBMED   11114196
REFERENCE   10 (bases 1 to 1300)
  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 BC025753.1 and AA176752.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_021245.3.
            
            Summary: The protein encoded by this gene is primarily 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].
            
            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 :: SRR5189667.66730.1,
                                           SRR5189667.212838.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359322.5/ ENSP00000352272.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1258              BC025753.1         284-1541
            1259-1300           AA176752.1         1-42                c
FEATURES             Location/Qualifiers
     source          1..1300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..1300
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /note="myozenin 1"
                     /db_xref="GeneID:58529"
                     /db_xref="HGNC:HGNC:13752"
                     /db_xref="MIM:605603"
     exon            1..64
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /inference="alignment:Splign:2.1.0"
     exon            65..155
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..982
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /note="calsarcin-2; filamin-, actinin- and
                     telethonin-binding protein"
                     /codon_start=1
                     /product="myozenin-1"
                     /protein_id="NP_067068.1"
                     /db_xref="CCDS:CCDS7330.1"
                     /db_xref="GeneID:58529"
                     /db_xref="HGNC:HGNC:13752"
                     /db_xref="MIM:605603"
                     /translation="MPLSGTPAPNKKRKSSKLIMELTGGGQESSGLNLGKKISVPRDV
                     MLEELSLLTNRGSKMFKLRQMRVEKFIYENHPDVFSDSSMDHFQKFLPTVGGQLGTAG
                     QGFSYSKSNGRGGSQAGGSGSAGQYGSDQQHHLGSGSGAGGTGGPAGQAGRGGAAGTA
                     GVGETGSGDQAGGEGKHITVFKTYISPWERAMGVDPQQKMELGIDLLAYGAKAELPKY
                     KSFNRTAMPYGGYEKASKRMTFQMPKFDLGPLLSEPLVLYNQNLSNRPSFNRTPIPWL
                     SSGEPVDYNVDIGIPLDGETEEL"
     exon            156..334
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /inference="alignment:Splign:2.1.0"
     exon            335..584
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /inference="alignment:Splign:2.1.0"
     exon            585..750
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /inference="alignment:Splign:2.1.0"
     exon            751..1300
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1237..1242
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /note="hexamer: AATAAA"
     polyA_site      1258
                     /gene="MYOZ1"
                     /gene_synonym="CS-2; FATZ; MYOZ"
                     /note="major polyA site"
ORIGIN      
        1 acagcagctc agtcctccaa agctgctgga ccccagggag agctgaccac tgcccgagca
       61 gccggctgaa tccacctcca caatgccgct ctcaggaacc ccggccccta ataagaagag
      121 gaaatccagc aagctgatca tggaactcac tggaggtgga caggagagct caggcttgaa
      181 cctgggcaaa aagatcagtg tcccaaggga tgtgatgttg gaggaactgt cgctgcttac
      241 caaccggggc tccaagatgt tcaaactgcg gcagatgagg gtggagaagt ttatttatga
      301 gaaccaccct gatgttttct ctgacagctc aatggatcac ttccagaagt tccttccaac
      361 agtgggggga cagctgggca cagctggtca gggattctca tacagcaaga gcaacggcag
      421 aggcggcagc caggcagggg gcagtggctc tgccggacag tatggctctg atcagcagca
      481 ccatctgggc tctgggtctg gagctggggg tacaggtggt cccgcgggcc aggctggcag
      541 aggaggagct gctggcacag caggggttgg tgagacagga tcaggagacc aggcaggcgg
      601 agaaggaaaa catatcactg tgttcaagac ctatatttcc ccatgggagc gagccatggg
      661 ggttgacccc cagcaaaaaa tggaacttgg cattgacctg ctggcctatg gggccaaagc
      721 tgaacttccc aaatataagt ccttcaacag gacggcaatg ccctatggtg gatatgagaa
      781 ggcctccaaa cgcatgacct tccagatgcc caagtttgac ctggggccct tgctgagtga
      841 acccctggtc ctctacaacc aaaacctctc caacaggcct tctttcaatc gaacccctat
      901 tccctggctg agctctgggg agcctgtaga ctacaacgtg gatattggca tccccttgga
      961 tggagaaaca gaggagctgt gaggtgtttc ctcctctgat ttgcatcatt tcccctctct
     1021 ggctccaatt tggagaggga atgctgagca gatagccccc attgttaatc cagtatcctt
     1081 atgggaatgg agggaaaaag gagagatcta cctttccatc ctttactcca agtccccact
     1141 ccacgcatcc ttcctcacca actcagagct ccccttctac ttgctccata tggaacctgc
     1201 tcgtttatgg aatttgctct gccaccagta acagtcaata aacttcaagg aaaatgaact
     1261 cattcttcct ttgatatttg agagcagatg aaagccgagg
//
