LOCUS       NM_006757               1065 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens troponin T3, fast skeletal type (TNNT3), transcript
            variant 1, mRNA.
ACCESSION   NM_006757
VERSION     NM_006757.4
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 1065)
  AUTHORS   Lu,J., Li,H., Zhang,H., Lin,Z., Xu,C., Xu,X., Hu,L., Luan,Z.,
            Lou,Y. and Tang,S.
  TITLE     The distal arthrogryposis-linked p.R63C variant promotes the
            stability and nuclear accumulation of TNNT3
  JOURNAL   J Clin Lab Anal 35 (12), e24089 (2021)
   PUBMED   34766372
  REMARK    GeneRIF: The distal arthrogryposis-linked p.R63C variant promotes
            the stability and nuclear accumulation of TNNT3.
REFERENCE   2  (bases 1 to 1065)
  AUTHORS   Nunez Lopez,Y.O., Messi,M.L., Pratley,R.E., Zhang,T. and Delbono,O.
  TITLE     Troponin T3 associates with DNA consensus sequence that overlaps
            with p53 binding motifs
  JOURNAL   Exp Gerontol 108, 35-40 (2018)
   PUBMED   29596868
  REMARK    GeneRIF: The TnT3 appears to contribute to age-related sarcopenia
            and possibly other age-related deficiencies such as muscle insulin
            resistance and beta cell dysfunction by interacting with
            TnT3-binding sequences in the promoter area of p53-related genes,
            among others, and consequently modulating the transcriptional
            regulation of these target genes.
REFERENCE   3  (bases 1 to 1065)
  AUTHORS   Wei,B. and Jin,J.P.
  TITLE     TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and
            structure-function relationships
  JOURNAL   Gene 582 (1), 1-13 (2016)
   PUBMED   26774798
  REMARK    GeneRIF: Three homologous genes have evolved in vertebrates to
            encode three muscle type-specific TnT isoforms: TNNT1 for slow
            skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for
            fast skeletal muscle TnT.
            Review article
REFERENCE   4  (bases 1 to 1065)
  AUTHORS   Vorster,A.A., Beighton,P. and Ramesar,R.S.
  TITLE     Digitotalar dysmorphism: Molecular elucidation
  JOURNAL   S Afr Med J 106 (3), 253-255 (2016)
   PUBMED   26915936
  REMARK    GeneRIF: The presence of the p.(Arg63His) missense mutation at
            position 63 of TNNT3 was confirmed through direct cycle sequencing
            of genomic DNA in six affected South African family members for
            whom DNA had been archived.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1065)
  AUTHORS   Lindstrom,S., Thompson,D.J., Paterson,A.D., Li,J., Gierach,G.L.,
            Scott,C., Stone,J., Douglas,J.A., dos-Santos-Silva,I.,
            Fernandez-Navarro,P., Verghase,J., Smith,P., Brown,J., Luben,R.,
            Wareham,N.J., Loos,R.J., Heit,J.A., Pankratz,V.S., Norman,A.,
            Goode,E.L., Cunningham,J.M., deAndrade,M., Vierkant,R.A., Czene,K.,
            Fasching,P.A., Baglietto,L., Southey,M.C., Giles,G.G., Shah,K.P.,
            Chan,H.P., Helvie,M.A., Beck,A.H., Knoblauch,N.W., Hazra,A.,
            Hunter,D.J., Kraft,P., Pollan,M., Figueroa,J.D., Couch,F.J.,
            Hopper,J.L., Hall,P., Easton,D.F., Boyd,N.F., Vachon,C.M. and
            Tamimi,R.M.
  TITLE     Genome-wide association study identifies multiple loci associated
            with both mammographic density and breast cancer risk
  JOURNAL   Nat Commun 5, 5303 (2014)
   PUBMED   25342443
  REMARK    Erratum:[Nat Commun. 2015 Sep 09;6:8358. doi: 10.1038/ncomms9358..
            PMID: 26349435]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1065)
  AUTHORS   Stefancsik,R., Randall,J.D., Mao,C. and Sarkar,S.
  TITLE     Structure and sequence of the human fast skeletal troponin T
            (TNNT3) gene: insight into the evolution of the gene and the origin
            of the developmentally regulated isoforms
  JOURNAL   Comp Funct Genomics 4 (6), 609-625 (2003)
   PUBMED   18629027
  REMARK    Erratum:[Comp Funct Genomics. 2004;5(2):205]
REFERENCE   7  (bases 1 to 1065)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   8  (bases 1 to 1065)
  AUTHORS   Briggs,M.M., Maready,M., Schmidt,J.M. and Schachat,F.
  TITLE     Identification of a fetal exon in the human fast troponin T gene
  JOURNAL   FEBS Lett 350 (1), 37-40 (1994)
   PUBMED   8062920
REFERENCE   9  (bases 1 to 1065)
  AUTHORS   Wu,Q.L., Jha,P.K., Raychowdhury,M.K., Du,Y., Leavis,P.C. and
            Sarkar,S.
  TITLE     Isolation and characterization of human fast skeletal beta troponin
            T cDNA: comparative sequence analysis of isoforms and insight into
            the evolution of members of a multigene family
  JOURNAL   DNA Cell Biol 13 (3), 217-233 (1994)
   PUBMED   8172653
REFERENCE   10 (bases 1 to 1065)
  AUTHORS   Chong,P.C. and Hodges,R.S.
  TITLE     Photochemical cross-linking between rabbit skeletal troponin
            subunits. Troponin I-troponin T interactions
  JOURNAL   J Biol Chem 257 (19), 11667-11672 (1982)
   PUBMED   7118902
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA897990.1, M21984.1,
            BC117327.1 and BX640689.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006757.3.
            
            Summary: The binding of Ca(2+) to the trimeric troponin complex
            initiates the process of muscle contraction. Increased Ca(2+)
            concentrations produce a conformational change in the troponin
            complex that is transmitted to tropomyosin dimers situated along
            actin filaments. The altered conformation permits increased
            interaction between a myosin head and an actin filament which,
            ultimately, produces a muscle contraction. The troponin complex has
            protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I
            binds to actin and inhibits actin-myosin interaction. Subunit T
            binds the troponin complex to the tropomyosin complex and is also
            required for Ca(2+)-mediated activation of actomyosin ATPase
            activity. There are 3 different troponin T genes that encode
            tissue-specific isoforms of subunit T for fast skeletal-, slow
            skeletal-, and cardiac-muscle. This gene encodes fast skeletal
            troponin T protein; also known as troponin T type 3. Alternative
            splicing results in multiple transcript variants encoding
            additional distinct troponin T type 3 isoforms. A developmentally
            regulated switch between fetal/neonatal and adult troponin T type 3
            isoforms occurs. Additional splice variants have been described but
            their biological validity has not been established. Mutations in
            this gene may cause distal arthrogryposis multiplex congenita type
            2B (DA2B). [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            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##
            CDS exon combination :: M21984.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2151741, SAMEA2154361 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278317.11/ ENSP00000278317.6
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               DA897990.1         135-279
            146-515             M21984.1           80-449
            516-930             BC117327.1         510-924
            931-1065            BX640689.1         923-1057
FEATURES             Location/Qualifiers
     source          1..1065
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1065
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /note="troponin T3, fast skeletal type"
                     /db_xref="GeneID:7140"
                     /db_xref="HGNC:HGNC:11950"
                     /db_xref="MIM:600692"
     exon            1..60
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            61..95
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..855
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /note="isoform 1 is encoded by transcript variant 1;
                     troponin T, fast skeletal muscle; troponin T type 3
                     (skeletal, fast)"
                     /codon_start=1
                     /product="troponin T, fast skeletal muscle isoform 1"
                     /protein_id="NP_006748.1"
                     /db_xref="CCDS:CCDS7727.1"
                     /db_xref="GeneID:7140"
                     /db_xref="HGNC:HGNC:11950"
                     /db_xref="MIM:600692"
                     /translation="MSDEEVEQVEEQYEEEEEAQEEEEVQEDTAEEDAEEEKPRPKLT
                     APKIPEGEKVDFDDIQKKRQNKDLMELQALIDSHFEARKKEEEELVALKERIEKRRAE
                     RAEQQRIRAEKERERQNRLAEEKARREEEDAKRRAEDDLKKKKALSSMGANYSSYLAK
                     ADQKRGKKQTAREMKKKILAERRKPLNIDHLGEDKLRDKAKELWETLHQLEIDKFEFG
                     EKLKRQKYDITTLRSRIDQAQKHSKKAGTPAKGKVGGRWK"
     exon            96..109
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            110..127
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            128..145
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            146..160
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            161..184
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            185..203
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            204..249
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            250..366
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            367..444
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            445..558
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            559..668
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            669..759
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            760..800
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     exon            801..1065
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1046..1051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /note="hexamer: AATAAA"
     polyA_site      1065
                     /gene="TNNT3"
                     /gene_synonym="beta-TnTF; DA2B2; TNTF"
                     /note="major polyA site"
ORIGIN      
        1 agtgcctgca gccggtgctg tccacaggga gctccagccc ttctcacact cgacccgcag
       61 aaaccaccca ccttcaccat gtctgacgag gaagttgaac aggtggagga gcagtacgaa
      121 gaagaagagg aagcccagga ggaagaggaa gttcaagaag acaccgcaga ggaggacgcg
      181 gaagaggaga aaccgagacc caaactcact gctcctaaga tcccagaagg ggagaaagtg
      241 gacttcgatg acatccagaa gaagcgtcag aacaaagacc taatggagct ccaggccctc
      301 atcgacagcc actttgaagc ccggaagaag gaggaggagg agctggtcgc tctcaaagag
      361 agaatcgaga agcgccgtgc agagagagcg gagcagcaga ggattcgtgc agagaaggag
      421 agggagcgcc agaacagact ggcggaggaa aaggccagaa gggaggagga ggatgccaag
      481 aggagggcag aggacgacct gaagaagaag aaagctctgt cttccatggg agccaactac
      541 agcagctacc tggccaaggc tgaccagaag agaggcaaga agcagacagc ccgggaaatg
      601 aagaagaaga ttctggctga gagacgcaag ccgctcaaca tcgatcacct tggtgaagac
      661 aaactgaggg acaaggccaa ggagctctgg gagaccctgc accagctgga gattgacaag
      721 ttcgagtttg gggagaagct gaaacgccag aaatatgaca tcaccacgct caggagccgc
      781 attgaccagg cccagaagca cagcaagaag gctgggaccc cagccaaggg caaagtcggc
      841 gggcgctgga agtagagagg ccagaaaggc ccctcgaggc agagaccctc cgccctcttg
      901 cacaccaggg ccgctcgtgg gactccacat cctccagccc ccacaatcct gtcaggggct
      961 ccctgacagt cctgggggtg gagaggccat cccggggcgt cccccgcgtc tgtgtccttg
     1021 ctgccttcat cccctggggc ctgtgaataa agctgcagaa ccccc
//
