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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
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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 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)

Genotypes

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

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