LOCUS       NM_003280                687 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens troponin C1, slow skeletal and cardiac type (TNNC1),
            mRNA.
ACCESSION   NM_003280
VERSION     NM_003280.3
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 687)
  AUTHORS   Aborode,A.T., Olamilekan Adesola,R., Idris,I., Adio,W.S.,
            Scott,G.Y., Chakoma,M., Oluwaseun,A.A., Onifade,I.A., Adeoye,A.F.,
            Aluko,B.A. and Abok,J.I.
  TITLE     Troponin C gene mutations on cardiac muscle cell and skeletal
            Regulation: A comprehensive review
  JOURNAL   Gene 927, 148651 (2024)
   PUBMED   38871035
  REMARK    GeneRIF: Troponin C gene mutations on cardiac muscle cell and
            skeletal Regulation: A comprehensive review.
            Review article
REFERENCE   2  (bases 1 to 687)
  AUTHORS   Fang,C., Zhang,X., Li,C., Liu,F. and Liu,H.
  TITLE     Troponin C-1 Activated by E2F1 Accelerates Gastric Cancer
            Progression via Regulating TGF-beta/Smad Signaling
  JOURNAL   Dig Dis Sci 67 (9), 4444-4457 (2022)
   PUBMED   34797443
  REMARK    GeneRIF: Troponin C-1 Activated by E2F1 Accelerates Gastric Cancer
            Progression via Regulating TGF-beta/Smad Signaling.
REFERENCE   3  (bases 1 to 687)
  AUTHORS   Hassoun,R., Budde,H., Mannherz,H.G., Lodi,M., Fujita-Becker,S.,
            Laser,K.T., Gartner,A., Klingel,K., Mohner,D., Stehle,R.,
            Sultana,I., Schaaf,T., Majchrzak,M., Krause,V., Herrmann,C.,
            Nowaczyk,M.M., Mugge,A., Pfitzer,G., Schroder,R.R., Hamdani,N.,
            Milting,H., Jaquet,K. and Cimiotti,D.
  TITLE     De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe
            Infantile Cardiomyopathy Affect Myofilament Structure and Function
            and Are Modulated by Troponin Targeting Agents
  JOURNAL   Int J Mol Sci 22 (17), 9625 (2021)
   PUBMED   34502534
  REMARK    GeneRIF: De Novo Missense Mutations in TNNC1 and TNNI3 Causing
            Severe Infantile Cardiomyopathy Affect Myofilament Structure and
            Function and Are Modulated by Troponin Targeting Agents.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 687)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 687)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
REFERENCE   6  (bases 1 to 687)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   7  (bases 1 to 687)
  AUTHORS   Schreier,T., Kedes,L. and Gahlmann,R.
  TITLE     Cloning, structural analysis, and expression of the human slow
            twitch skeletal muscle/cardiac troponin C gene
  JOURNAL   J Biol Chem 265 (34), 21247-21253 (1990)
   PUBMED   2250022
REFERENCE   8  (bases 1 to 687)
  AUTHORS   Gahlmann,R., Wade,R., Gunning,P. and Kedes,L.
  TITLE     Differential expression of slow and fast skeletal muscle troponin
            C. Slow skeletal muscle troponin C is expressed in human
            fibroblasts
  JOURNAL   J Mol Biol 201 (2), 379-391 (1988)
   PUBMED   3166492
REFERENCE   9  (bases 1 to 687)
  AUTHORS   Roher,A., Lieska,N. and Spitz,W.
  TITLE     The amino acid sequence of human cardiac troponin-C
  JOURNAL   Muscle Nerve 9 (1), 73-77 (1986)
   PUBMED   3951483
REFERENCE   10 (bases 1 to 687)
  AUTHORS   Grand,R.J., Levine,B.A. and Perry,S.V.
  TITLE     Proton-magnetic-resonance studies on the interaction of rabbit
            skeletal-muscle troponin I with troponin C and actin
  JOURNAL   Biochem J 203 (1), 61-68 (1982)
   PUBMED   7103951
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X07897.1 and AJ574625.1.
            
            On May 17, 2019 this sequence version replaced NM_003280.2.
            
            Summary: Troponin is a central regulatory protein of striated
            muscle contraction, and together with tropomyosin, is located on
            the actin filament. Troponin consists of 3 subunits: TnI, which is
            the inhibitor of actomyosin ATPase; TnT, which contains the binding
            site for tropomyosin; and TnC, the protein encoded by this gene.
            The binding of calcium to TnC abolishes the inhibitory action of
            TnI, thus allowing the interaction of actin with myosin, the
            hydrolysis of ATP, and the generation of tension. Mutations in this
            gene are associated with cardiomyopathy dilated type 1Z. [provided
            by RefSeq, Oct 2008].
            
            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 :: SRR5189655.140968.1,
                                           SRR5189655.222916.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000232975.8/ ENSP00000232975.3
            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
            1-685               X07897.1           1-685
            686-687             AJ574625.1         323-324
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     gene            1..687
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /note="troponin C1, slow skeletal and cardiac type"
                     /db_xref="GeneID:7134"
                     /db_xref="HGNC:HGNC:11943"
                     /db_xref="MIM:191040"
     exon            1..50
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..512
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /note="cardiac troponin C; troponin C type 1 (slow); slow
                     twitch skeletal/cardiac muscle troponin C"
                     /codon_start=1
                     /product="troponin C, slow skeletal and cardiac muscles"
                     /protein_id="NP_003271.1"
                     /db_xref="CCDS:CCDS2857.1"
                     /db_xref="GeneID:7134"
                     /db_xref="HGNC:HGNC:11943"
                     /db_xref="MIM:191040"
                     /translation="MDDIYKAAVEQLTEEQKNEFKAAFDIFVLGAEDGCISTKELGKV
                     MRMLGQNPTPEELQEMIDEVDEDGSGTVDFDEFLVMMVRCMKDDSKGKSEEELSDLFR
                     MFDKNADGYIDLDELKIMLQATGETITEDDIEELMKDGDKNNDGRIDYDEFLEFMKGV
                     E"
     exon            51..81
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /inference="alignment:Splign:2.1.0"
     exon            82..228
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /inference="alignment:Splign:2.1.0"
     exon            229..343
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /inference="alignment:Splign:2.1.0"
     exon            344..480
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /inference="alignment:Splign:2.1.0"
     exon            481..687
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      668..673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /note="hexamer: AATAAA"
     polyA_site      687
                     /gene="TNNC1"
                     /gene_synonym="CMD1Z; CMH13; TN-C; TNC; TNNC"
                     /note="major polyA site"
ORIGIN      
        1 agcaagctgt cctgtgagcc gccagcatgg atgacatcta caaggctgcg gtagagcagc
       61 tgacagaaga gcagaaaaat gagttcaagg cagccttcga catcttcgtg ctgggcgctg
      121 aggatggctg catcagcacc aaggagctgg gcaaggtgat gaggatgctg ggccagaacc
      181 ccacccctga ggagctgcag gagatgatcg atgaggtgga cgaggacggc agcggcacgg
      241 tggactttga tgagttcctg gtcatgatgg ttcggtgcat gaaggacgac agcaaaggga
      301 aatctgagga ggagctgtct gacctcttcc gcatgtttga caaaaatgct gatggctaca
      361 tcgacctgga tgagctgaag ataatgctgc aggctacagg cgagaccatc acggaggacg
      421 acatcgagga gctcatgaag gacggagaca agaacaacga cggccgcatc gactatgatg
      481 agttcctgga gttcatgaag ggtgtggagt agatgctgac cttcacccag agctgcctat
      541 gcccagcctc caactccagc tgagtcctgg ggttggggag ggggtcgggg tcccaggacc
      601 tgagcctggc catgtcctca accccaaatc ccccgactcc ctccccagat ctgtcctggg
      661 ggatgcaaat aaagcctgct ctcccaa
//
