LOCUS       NM_003283               1111 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens troponin T1, slow skeletal type (TNNT1), transcript
            variant 1, mRNA.
ACCESSION   NM_003283 XM_352926
VERSION     NM_003283.6
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 1111)
  AUTHORS   Ge,X., Du,G., Zhou,Q., Yan,B. and Yue,G.
  TITLE     TNNT1 accelerates migration, invasion and EMT progression in lung
            cancer cells
  JOURNAL   Thorac Cancer 15 (23), 1749-1756 (2024)
   PUBMED   38973201
  REMARK    GeneRIF: TNNT1 accelerates migration, invasion and EMT progression
            in lung cancer cells.
REFERENCE   2  (bases 1 to 1111)
  AUTHORS   Zhang,Q., Hao,L., Wang,F., Yu,Q., Wu,S. and Han,C.
  TITLE     Troponin T1 in tumorigenesis and immune modulation: Insights into
            multiple cancers and kidney renal clear cell carcinoma
  JOURNAL   J Cell Mol Med 28 (11), e18410 (2024)
   PUBMED   38853457
  REMARK    GeneRIF: Troponin T1 in tumorigenesis and immune modulation:
            Insights into multiple cancers and kidney renal clear cell
            carcinoma.
REFERENCE   3  (bases 1 to 1111)
  AUTHORS   Strauss,K.A., Carson,V.J., Bolettieri,E., Everett,M., Bollinger,A.,
            Bowser,L.E., Beiler,K., Young,M., Edvardson,S., Fraenkel,N.,
            D'Amico,A., Bertini,E., Lingappa,L., Chowdhury,D., Lowes,L.P.,
            Iammarino,M., Alfano,L.N. and Brigatti,K.W.
  TITLE     WiTNNess: An international natural history study of infantile-onset
            TNNT1 myopathy
  JOURNAL   Ann Clin Transl Neurol 10 (11), 1972-1984 (2023)
   PUBMED   37632133
  REMARK    GeneRIF: WiTNNess: An international natural history study of
            infantile-onset TNNT1 myopathy.
REFERENCE   4  (bases 1 to 1111)
  AUTHORS   Huang,S.C., Huang,C.C., Ko,C.Y., Huang,C.Y., Liu,C.H., Lee,Y.K.,
            Chen,T.Y., Hsueh,C.W., Tzou,S.J., Tai,M.H., Hu,T.H., Tsai,M.C.,
            Lee,W.C., Ho,Y.C., Wu,C.C., Chang,Y.C., Chang,J.J., Liu,K.H.,
            Li,C.C., Wen,Z.H., Chang,C.L. and Chu,T.H.
  TITLE     Slow skeletal muscle troponin T acts as a potential prognostic
            biomarker and therapeutic target for hepatocellular carcinoma
  JOURNAL   Gene 865, 147331 (2023)
   PUBMED   36871674
  REMARK    GeneRIF: Slow skeletal muscle troponin T acts as a potential
            prognostic biomarker and therapeutic target for hepatocellular
            carcinoma.
REFERENCE   5  (bases 1 to 1111)
  AUTHORS   Barton,P.J., Cullen,M.E., Townsend,P.J., Brand,N.J., Mullen,A.J.,
            Norman,D.A., Bhavsar,P.K. and Yacoub,M.H.
  TITLE     Close physical linkage of human troponin genes: organization,
            sequence, and expression of the locus encoding cardiac troponin I
            and slow skeletal troponin T
  JOURNAL   Genomics 57 (1), 102-109 (1999)
   PUBMED   10191089
REFERENCE   6  (bases 1 to 1111)
  AUTHORS   North,K.N. and Ryan,M.M.
  TITLE     Nemaline Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301465
REFERENCE   7  (bases 1 to 1111)
  AUTHORS   Novelli,G., Gennarelli,M., Zelano,G., Sangiuolo,F., Lo Cicero,S.,
            Samson,F. and Dallapiccola,B.
  TITLE     Polymerase chain reaction in the detection of mRNA transcripts from
            the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and
            normal muscle
  JOURNAL   Cell Biochem Funct 10 (4), 251-256 (1992)
   PUBMED   1473264
REFERENCE   8  (bases 1 to 1111)
  AUTHORS   Samson,F., de Jong,P.J., Trask,B.J., Koza-Taylor,P., Speer,M.C.,
            Potter,T., Roses,A.D. and Gilbert,J.R.
  TITLE     Assignment of the human slow skeletal troponin T gene to 19q13.4
            using somatic cell hybrids and fluorescence in situ hybridization
            analysis
  JOURNAL   Genomics 13 (4), 1374-1375 (1992)
   PUBMED   1505979
REFERENCE   9  (bases 1 to 1111)
  AUTHORS   Novelli,G., Gennarelli,M., Rocchi,M. and Dallapiccola,B.
  TITLE     Assignment of the slow troponin T (TNNT1) gene to chromosome 19
            using polymerase chain reaction
  JOURNAL   Hum Genet 88 (6), 697-698 (1992)
   PUBMED   1551677
REFERENCE   10 (bases 1 to 1111)
  AUTHORS   Gahlmann,R., Troutt,A.B., Wade,R.P., Gunning,P. and Kedes,L.
  TITLE     Alternative splicing generates variants in important functional
            domains of human slow skeletal troponin T
  JOURNAL   J Biol Chem 262 (33), 16122-16126 (1987)
   PUBMED   2824479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC385627.1, BC010963.1,
            M19309.1 and F20363.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003283.5.
            
            Summary: This gene encodes a protein that is a subunit of troponin,
            which is a regulatory complex located on the thin filament of the
            sarcomere. This complex regulates striated muscle contraction in
            response to fluctuations in intracellular calcium concentration.
            This complex is composed of three subunits: troponin C, which binds
            calcium, troponin T, which binds tropomyosin, and troponin I, which
            is an inhibitory subunit. This protein is the slow skeletal
            troponin T subunit. Mutations in this gene cause nemaline myopathy
            type 5, also known as Amish nemaline myopathy, a neuromuscular
            disorder characterized by muscle weakness and rod-shaped, or
            nemaline, inclusions in skeletal muscle fibers which affects
            infants, resulting in death due to respiratory insufficiency,
            usually in the second year. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: M19309.1, DRR138525.616423.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465413 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000588981.6/ ENSP00000467176.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DC385627.1         149-151
            4-117               BC010963.1         5-118
            118-980             M19309.1           118-980
            981-1111            F20363.1           276-406
FEATURES             Location/Qualifiers
     source          1..1111
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..1111
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /note="troponin T1, slow skeletal type"
                     /db_xref="GeneID:7138"
                     /db_xref="HGNC:HGNC:11948"
                     /db_xref="MIM:191041"
     exon            1..46
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            47..89
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..894
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /note="isoform a is encoded by transcript variant 1;
                     troponin-T1, skeletal, slow; troponin T type 1 (skeletal,
                     slow); slow skeletal muscle troponin T"
                     /codon_start=1
                     /product="troponin T, slow skeletal muscle isoform a"
                     /protein_id="NP_003274.3"
                     /db_xref="CCDS:CCDS12917.1"
                     /db_xref="GeneID:7138"
                     /db_xref="HGNC:HGNC:11948"
                     /db_xref="MIM:191041"
                     /translation="MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSR
                     PVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKER
                     IERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAH
                     FGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLRARSAWLPPSQPSCP
                     AREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGR
                     WK"
     exon            90..103
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            104..130
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            131..163
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            164..185
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            186..249
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            250..366
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            367..444
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            445..558
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            559..668
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            669..807
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            808..848
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1111
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      958..963
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /note="hexamer: AATAAA"
     polyA_site      978
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /note="major polyA site"
     regulatory      1085..1090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
                     /note="hexamer: ATTAAA"
     polyA_site      1111
                     /gene="TNNT1"
                     /gene_synonym="ANM; NEM5; STNT; TNT; TNTS"
ORIGIN      
        1 agcaaggctc agcctcaaga ttcacagcat ctcagacaca gcctaggccg caccaggatg
       61 tcggacaccg aggagcagga atatgaggag gagcagccgg aagaggaggc tgcggaggag
      121 gaggaggaag cccccgaaga gccggagccg gtggcagagc cagaagagga acgccccaaa
      181 ccaagccgcc ccgtggtgcc tcctttgatc ccgccaaaga tcccagaagg ggagcgcgtt
      241 gacttcgatg acatccaccg caagcgcatg gagaaagacc tgctggagct gcagacactc
      301 atcgatgtac atttcgagca gcggaagaag gaggaagagg agctggttgc cttgaaggag
      361 cgcattgagc ggcgccggtc agagagagcc gagcaacagc gcttcagaac tgagaaggaa
      421 cgcgaacgtc aggctaagct ggcggaggag aagatgagga aggaagagga agaggccaag
      481 aagcgggcag aggatgatgc caagaaaaag aaggtgctgt ccaacatggg ggcccatttt
      541 ggcggctacc tggtcaaggc agaacagaag cgtggtaagc ggcagacggg gcgggagatg
      601 aaggtgcgca tcctctccga gcgtaagaag cctctggaca ttgactacat gggggaggaa
      661 cagctccggg cccggtctgc ctggctgcct ccatcacagc cctcctgccc tgccagggag
      721 aaagcccagg agctgtcgga ctggatccac cagctggagt ctgagaagtt cgacctgatg
      781 gcgaagctga aacagcagaa atatgagatc aacgtgctgt acaaccgcat cagccacgcc
      841 cagaagttcc ggaagggggc agggaagggc cgcgttggag gccgctggaa gtgaggatgc
      901 cgccccggac agtggcacct gggaagcctg ggagtgtttg tcccatcggt agcttgaaat
      961 aaacgctccc ctcagacacc cgctgggttc tctgatgtta ttatggttga gatgcagctg
     1021 gtctctcctg gttaattgac ttcttattac caacaagtta cttgaaagag tgtcaccaat
     1081 aatcattaaa gtacggcagg ctgaaccttc a
//
