LOCUS       NM_000363                843 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens troponin I3, cardiac type (TNNI3), mRNA.
ACCESSION   NM_000363
VERSION     NM_000363.5
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 843)
  AUTHORS   Elezaby,A., Lin,A.J., Vijayan,V., Pokhrel,S., Kraemer,B.R.,
            Bechara,L.R.G., Larus,I., Sun,J., Baena,V., Syed,Z.A., Murphy,E.,
            Glancy,B., Ostberg,N.P., Queliconi,B.B., Campos,J.C.,
            Ferreira,J.C.B., Haileselassie,B. and Mochly-Rosen,D.
  TITLE     Cardiac troponin I directly binds and inhibits mitochondrial ATP
            synthase with a noncanonical role in the post-ischemic heart
  JOURNAL   Nat Cardiovasc Res 3 (8), 987-1002 (2024)
   PUBMED   39196031
  REMARK    GeneRIF: Cardiac troponin I directly binds and inhibits
            mitochondrial ATP synthase with a noncanonical role in the
            post-ischemic heart.
REFERENCE   2  (bases 1 to 843)
  AUTHORS   Kraoua,L., Louati,A., Ahmed,S.B., Abida,N., Khemiri,M., Menif,K.,
            Mrad,R., Zaffran,S. and Jaouadi,H.
  TITLE     Homozygous TNNI3 frameshift variant in a consanguineous family with
            lethal infantile dilated cardiomyopathy
  JOURNAL   Mol Genet Genomic Med 12 (6), e2486 (2024)
   PUBMED   38924380
  REMARK    GeneRIF: Homozygous TNNI3 frameshift variant in a consanguineous
            family with lethal infantile dilated cardiomyopathy.
REFERENCE   3  (bases 1 to 843)
  AUTHORS   Liu,R.M., Huang,S., Hu,D., Liu,L., Sun,H.C., Tian,J. and Pan,B.
  TITLE     Decreased intranuclear cardiac troponin I impairs cardiac autophagy
            through FOS/ATG5 in ageing hearts
  JOURNAL   J Cell Mol Med 28 (9), e18357 (2024)
   PUBMED   38683127
  REMARK    GeneRIF: Decreased intranuclear cardiac troponin I impairs cardiac
            autophagy through FOS/ATG5 in ageing hearts.
REFERENCE   4  (bases 1 to 843)
  AUTHORS   Wang,R., Hasegawa,M., Suginobe,H., Yoshihara,C., Ishii,Y.,
            Ueyama,A., Ueda,K., Hashimoto,K., Hirose,M., Ishii,R., Narita,J.,
            Watanabe,T., Kawamura,T., Taira,M., Ueno,T., Miyagawa,S. and
            Ishida,H.
  TITLE     Impaired Relaxation in Induced Pluripotent Stem Cell-Derived
            Cardiomyocytes with Pathogenic TNNI3 Mutation of Pediatric
            Restrictive Cardiomyopathy
  JOURNAL   J Am Heart Assoc 13 (6), e032375 (2024)
   PUBMED   38497452
  REMARK    GeneRIF: Impaired Relaxation in Induced Pluripotent Stem
            Cell-Derived Cardiomyocytes with Pathogenic TNNI3 Mutation of
            Pediatric Restrictive Cardiomyopathy.
REFERENCE   5  (bases 1 to 843)
  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 843)
  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 843)
  AUTHORS   MacGeoch,C., Barton,P.J., Vallins,W.J., Bhavsar,P. and Spurr,N.K.
  TITLE     The human cardiac troponin I locus: assignment to chromosome
            19p13.2-19q13.2
  JOURNAL   Hum Genet 88 (1), 101-104 (1991)
   PUBMED   1959915
REFERENCE   8  (bases 1 to 843)
  AUTHORS   Hunkeler,N.M., Kullman,J. and Murphy,A.M.
  TITLE     Troponin I isoform expression in human heart
  JOURNAL   Circ Res 69 (5), 1409-1414 (1991)
   PUBMED   1934363
REFERENCE   9  (bases 1 to 843)
  AUTHORS   Mittmann,K., Jaquet,K. and Heilmeyer,L.M. Jr.
  TITLE     A common motif of two adjacent phosphoserines in bovine, rabbit and
            human cardiac troponin I
  JOURNAL   FEBS Lett 273 (1-2), 41-45 (1990)
   PUBMED   2226863
REFERENCE   10 (bases 1 to 843)
  AUTHORS   Vallins,W.J., Brand,N.J., Dabhade,N., Butler-Browne,G., Yacoub,M.H.
            and Barton,P.J.
  TITLE     Molecular cloning of human cardiac troponin I using polymerase
            chain reaction
  JOURNAL   FEBS Lett 270 (1-2), 57-61 (1990)
   PUBMED   2226790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK223451.1.
            
            On May 17, 2019 this sequence version replaced NM_000363.4.
            
            Summary: Troponin I (TnI), along with troponin T (TnT) and troponin
            C (TnC), is one of 3 subunits that form the troponin complex of the
            thin filaments of striated muscle. TnI is the inhibitory subunit;
            blocking actin-myosin interactions and thereby mediating striated
            muscle relaxation. The TnI subfamily contains three genes:
            TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and
            TnI-cardiac. This gene encodes the TnI-cardiac protein and is
            exclusively expressed in cardiac muscle tissues. Mutations in this
            gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and
            familial restrictive cardiomyopathy (RCM). Troponin I is useful in
            making a diagnosis of heart failure, and of ischemic heart disease.
            An elevated level of troponin is also now used as indicator of
            acute myocardial injury in patients hospitalized with
            moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation
            has also been associated with higher risk of mortality in
            cardiovascular disease patients hospitalized due to COVID-19.
            [provided by RefSeq, Aug 2020].
            
            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 :: AK223451.1, EU747720.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: relevant for COVID-19 prognosis
            MANE Ensembl match     :: ENST00000344887.10/ ENSP00000341838.5
            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
            1-843               AK223451.1         1-843
FEATURES             Location/Qualifiers
     source          1..843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..843
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="troponin I3, cardiac type"
                     /db_xref="GeneID:7137"
                     /db_xref="HGNC:HGNC:11947"
                     /db_xref="MIM:191044"
     exon            1..154
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     exon            155..167
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     exon            168..251
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     exon            252..293
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     exon            294..425
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     exon            426..515
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     exon            516..692
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     exon            693..843
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      819..824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="hexamer: AATAAA"
     polyA_site      843
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="major polyA site"
ORIGIN      
        1 agtgtcctcg gggagtctca agcagcccgg aggagactga cggtccctgg gaccctgaag
       61 gtcacccggg cggccccctc actgaccctc caaacgcccc tgtcctcgcc ctgcctcctg
      121 ccattcccgg cctgagtctc agcatggcgg atgggagcag cgatgcggct agggaacctc
      181 gccctgcacc agccccaatc agacgccgct cctccaacta ccgcgcttat gccacggagc
      241 cgcacgccaa gaaaaaatct aagatctccg cctcgagaaa attgcagctg aagactctgc
      301 tgctgcagat tgcaaagcaa gagctggagc gagaggcgga ggagcggcgc ggagagaagg
      361 ggcgcgctct gagcacccgc tgccagccgc tggagttggc cgggctgggc ttcgcggagc
      421 tgcaggactt gtgccgacag ctccacgccc gtgtggacaa ggtggatgaa gagagatacg
      481 acatagaggc aaaagtcacc aagaacatca cggagattgc agatctgact cagaagatct
      541 ttgaccttcg aggcaagttt aagcggccca ccctgcggag agtgaggatc tctgcagatg
      601 ccatgatgca ggcgctgctg ggggcccggg ctaaggagtc cctggacctg cgggcccacc
      661 tcaagcaggt gaagaaggag gacaccgaga aggaaaaccg ggaggtggga gactggcgca
      721 agaacatcga tgcactgagt ggaatggagg gccgcaagaa aaagtttgag agctgagcct
      781 tcctgcctac tgcccctgcc ctgaggaggg ccctgaggaa taaagcttct ctctgagctg
      841 aaa
//
