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    TNNT1 troponin T1, slow skeletal type [ Homo sapiens (human) ]

    Gene ID: 7138, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TNNT1provided by HGNC
    Official Full Name
    troponin T1, slow skeletal typeprovided by HGNC
    Primary source
    HGNC:HGNC:11948
    See related
    Ensembl:ENSG00000105048 MIM:191041; AllianceGenome:HGNC:11948
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANM; TNT; NEM5; STNT; TNTS
    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]
    Expression
    Biased expression in esophagus (RPKM 142.1), prostate (RPKM 132.0) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TNNT1 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55132698..55149206, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58226372..58243170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55644066..55660574, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 12C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55624596-55625222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55625223-55625849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55627401-55628236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15076 Neighboring gene microRNA 7975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15077 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:55652829-55653333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55668291-55668878 Neighboring gene troponin I3, cardiac type Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55672120-55673046 Neighboring gene DNAAF3 antisense RNA 1 Neighboring gene dynein axonemal assembly factor 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55677361-55677592

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cardiac troponin T release and inflammation demonstrated in marathon runners. Saravia SG, et al. Clin Lab, 2010. PMID 20380359
    2. Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. Amarasinghe C, et al. Biochemistry, 2016 Aug 16. PMID 27429059
    3. Epigenetic and genetic variations at the TNNT1 gene locus are associated with HDL-C levels and coronary artery disease. Guay SP, et al. Epigenomics, 2016 Mar. PMID 26950807
    4. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1). Abdulhaq UN, et al. Muscle Nerve, 2016 Apr. PMID 26296490
    5. Diagnostic and prognostic validity of different biomarkers in patients with suspected myocarditis. Ukena C, et al. Clin Res Cardiol, 2014 Sep. PMID 24781421

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TNNT1 accelerates migration, invasion and EMT progression in lung cancer cells.
      Title: TNNT1 accelerates migration, invasion and EMT progression in lung cancer cells.
    2. Troponin T1 in tumorigenesis and immune modulation: Insights into multiple cancers and kidney renal clear cell carcinoma.
      Title: Troponin T1 in tumorigenesis and immune modulation: Insights into multiple cancers and kidney renal clear cell carcinoma.
    3. WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
      Title: WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
    4. Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma.
      Title: Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma.
    5. TNNT1 myopathy with novel compound heterozygous mutations.
      Title: TNNT1 myopathy with novel compound heterozygous mutations.
    6. Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.
      Title: Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.
    7. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
      Title: Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
    8. TNNT1, negatively regulated by miR-873, promotes the progression of colorectal cancer.
      Title: TNNT1, negatively regulated by miR-873, promotes the progression of colorectal cancer.
    9. Troponin T but not C reactive protein is associated with future surgery for aortic stenosis: a population-based nested case-referent study.
      Title: Troponin T but not C reactive protein is associated with future surgery for aortic stenosis: a population-based nested case-referent study.
    10. Three adults and 1 child shared a novel missense homozygous variant in the TNNT1 gene (NM_003283.6: c.287T > C; p.Leu96Pro). This study expands the phenotypic spectrum of TNNT1 myopathy.
      Title: Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Nemaline myopathy 5
    MedGen: C1854380 OMIM: 605355 GeneReviews: Not available
    		Compare labs
    Nemaline myopathy 5B, autosomal recessive, childhood-onset
    MedGen: C5830545 OMIM: 620386 GeneReviews: Not available
    		not available
    Nemaline myopathy 5C, autosomal dominant
    MedGen: C5830549 OMIM: 620389 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ98147, MGC104241

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tropomyosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tropomyosin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables tropomyosin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables troponin T binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in slow-twitch skeletal muscle fiber contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transition between fast and slow fiber IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of troponin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of troponin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of troponin complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    troponin T, slow skeletal muscle
    Names
    slow skeletal muscle troponin T
    troponin T type 1 (skeletal, slow)
    troponin-T1, skeletal, slow

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011829.2 RefSeqGene

      Range
      5033..21541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_679

    mRNA and Protein(s)

    1. NM_001126132.3 → NP_001119604.1  troponin T, slow skeletal muscle isoform b

      See identical proteins and their annotated locations for NP_001119604.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      BC010963, DC385627, F20363
      Consensus CDS
      CCDS59421.1
      UniProtKB/TrEMBL
      A8K5N7
      Related
      ENSP00000291901.8, ENST00000291901.12
      Conserved Domains (1) summary
      pfam00992
      Location:69 → 205
      Troponin; Troponin

    2. NM_001126133.3 → NP_001119605.1  troponin T, slow skeletal muscle isoform c

      See identical proteins and their annotated locations for NP_001119605.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      BC010963, DC385627, F20363, M19308
      Consensus CDS
      CCDS46185.1
      UniProtKB/TrEMBL
      A8K5N7
      Related
      ENSP00000349233.4, ENST00000356783.9
      Conserved Domains (1) summary
      pfam00992
      Location:58 → 194
      Troponin; Troponin

    3. NM_001291774.2 → NP_001278703.1  troponin T, slow skeletal muscle isoform c

      See identical proteins and their annotated locations for NP_001278703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      BC010963, BC022086, DC385627, F20363
      Consensus CDS
      CCDS46185.1
      UniProtKB/TrEMBL
      A8K5N7
      Related
      ENSP00000467789.1, ENST00000587758.5
      Conserved Domains (1) summary
      pfam00992
      Location:58 → 194
      Troponin; Troponin

    4. NM_003283.6 → NP_003274.3  troponin T, slow skeletal muscle isoform a

      See identical proteins and their annotated locations for NP_003274.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC010963, DC385627, F20363, M19309
      Consensus CDS
      CCDS12917.1
      UniProtKB/Swiss-Prot
      O95472, P13805, Q16061, Q5U0E1
      UniProtKB/TrEMBL
      A8K5N7
      Related
      ENSP00000467176.1, ENST00000588981.6
      Conserved Domains (1) summary
      pfam00992
      Location:69 → 204
      Troponin; Troponin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55132698..55149206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527246.4 → XP_011525548.1  troponin T, slow skeletal muscle isoform X2

      UniProtKB/TrEMBL
      A8K5N7
      Conserved Domains (1) summary
      pfam00992
      Location:65 → 201
      Troponin; Troponin

    2. XM_017027186.2 → XP_016882675.1  troponin T, slow skeletal muscle isoform X1

      UniProtKB/TrEMBL
      A8K5N7
      Conserved Domains (1) summary
      pfam00992
      Location:69 → 205
      Troponin; Troponin

    3. XM_017027187.2 → XP_016882676.1  troponin T, slow skeletal muscle isoform X2

      UniProtKB/TrEMBL
      A8K5N7
      Conserved Domains (1) summary
      pfam00992
      Location:65 → 201
      Troponin; Troponin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58226372..58243170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321905.1 → XP_054177880.1  troponin T, slow skeletal muscle isoform X2

    2. XM_054321903.1 → XP_054177878.1  troponin T, slow skeletal muscle isoform X1

    3. XM_054321904.1 → XP_054177879.1  troponin T, slow skeletal muscle isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13805.4 GenPept UniProtKB/Swiss-Prot:P13805

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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