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

Summary

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

Location:: 19q13.42

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55132698..55149206, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58226372..58243170, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55644066..55660574, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Title: WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
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.
TNNT1 myopathy with novel compound heterozygous mutations.
Title: TNNT1 myopathy with novel compound heterozygous mutations.
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.
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.
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.
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.
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.
These findings indicated that TNNT1 may promote the progression of colon adenocarcinoma, mediating epithelial-mesenchymal transition process, and thus shed a novel light on colon adenocarcinoma therapeutic treatments.
Title: TNNT1, a prognostic indicator in colon adenocarcinoma, regulates cell behaviors and mediates EMT process.
In a nationwide cohort in Sweden, patients with a first myocardial infarction had increased levels of Troponin T.
Title: High-Sensitivity Troponins and Outcomes After Myocardial Infarction.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:181281 (e-PCR)
- UniSTS:155235

RH71430 (e-PCR)
- UniSTS:56185

GDB:204197 (e-PCR)
- UniSTS:156110

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

NG_011829.2 RefSeqGene

Range

5033..21541

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_679

mRNA and Protein(s)

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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

55132698..55149206 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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