Tnnt1 troponin T1, skeletal, slow [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tnnt1provided by MGI
Official Full Name: troponin T1, skeletal, slowprovided by MGI
Primary source: MGI:MGI:1333868
See related: Ensembl:ENSMUSG00000064179 AllianceGenome:MGI:1333868
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tnt; sTnT; ssTnT
Summary: This gene encodes the slow skeletal tropomyosin-binding subunit of the troponin complex and plays an essential role in the regulation of striated muscle contraction. In humans, mutations in this gene are associated with nemaline myopathy type 5. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
Expression: Biased expression in limb E14.5 (RPKM 26.9), CNS E11.5 (RPKM 6.4) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A1; 7 2.6 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (4507568..4518974, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (4504569..4515975, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy.
Title: The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy.
Similar functional and histological phenotypes were observed in other human cohorts and two transgenic murine models (Tnnt1-/- and Tnnt1 c.505G>T). These findings have implications for emerging molecular therapies, including the suitably of TNNT1 gene replacement for newborns with 'Amish' nemaline myopathy or other TNNT1-associated myopathies.
Title: TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Mouse tumor endothelial cells express troponin T.
Title: Identification and expression of troponin T, a new marker on the surface of cultured tumor endothelial cells by aptamer ligand.
demonstrated that ssTnT deficiency resulted in significantly decreased levels of other slow fibre-specific myofilament proteins whereas fast fibre-specific myofilament proteins were increased correspondingly
Title: Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue.
Data show that cardiac expression of slow skeletal troponin T (Tnnt1) strictly depends on the physical interaction between GATA4-FOG2 in the myocardium of both atria and ventricles.
Title: Cardiac expression of Tnnt1 requires the GATA4-FOG2 transcription complex.
the induction of Tnnt1 gene expression in adult mouse brains by ketamine may illustrate the genes involved in the metabolic syndromes observed in neuropsychiatric disorders
Title: The expression of Troponin T1 gene is induced by ketamine in adult mouse brain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (3) 1 citation

General gene information

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Markers

Tnnt1 (e-PCR), detects polymorphism
- UniSTS:158765

AW146156 (e-PCR)
- UniSTS:179509

Tnnt1 (e-PCR), detects polymorphism
- UniSTS:499116

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables tropomyosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tropomyosin binding	IEA Inferred from Electronic Annotation more info
enables tropomyosin binding	ISO Inferred from Sequence Orthology more info
enables troponin T binding	IBA Inferred from Biological aspect of Ancestor more info
enables troponin T binding	IEA Inferred from Electronic Annotation more info
enables troponin T binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in slow-twitch skeletal muscle fiber contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in slow-twitch skeletal muscle fiber contraction	IEA Inferred from Electronic Annotation more info
involved_in slow-twitch skeletal muscle fiber contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transition between fast and slow fiber	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of troponin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of troponin complex	IEA Inferred from Electronic Annotation more info
part_of troponin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: troponin T, slow skeletal muscle

Names: skeletal muscle slow-twitch TnT

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.

mRNA and Protein(s)

NM_001277903.1 → NP_001264832.1 troponin T, slow skeletal muscle isoform 1

See identical proteins and their annotated locations for NP_001264832.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC161218

Consensus CDS

CCDS71880.1

UniProtKB/Swiss-Prot

B7ZNV5, B7ZNV6, O88346, O88795, Q9QUP7

UniProtKB/TrEMBL

B7ZNV4

Related

ENSMUSP00000104228.3, ENSMUST00000108587.9

Conserved Domains (1) summary

pfam00992
Location:69 → 205

Troponin
NM_001277904.1 → NP_001264833.1 troponin T, slow skeletal muscle isoform 3

See identical proteins and their annotated locations for NP_001264833.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 3, also known as low Mr isoform), compared to isoform 1.

Source sequence(s)

AC161218

Consensus CDS

CCDS71879.1

UniProtKB/TrEMBL

B7ZNV4

Related

ENSMUSP00000129626.2, ENSMUST00000163710.8

Conserved Domains (1) summary

pfam00992
Location:57 → 193

Troponin
NM_001360154.1 → NP_001347083.1 troponin T, slow skeletal muscle isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.

Source sequence(s)

AC161218

UniProtKB/TrEMBL

B7ZNV4

Related

ENSMUSP00000128476.2, ENSMUST00000166268.8

Conserved Domains (1) summary

pfam00992
Location:58 → 194

Troponin
NM_001417401.1 → NP_001404330.1 troponin T, slow skeletal muscle isoform 5

Status: REVIEWED

Source sequence(s)

AC161218
NM_001417402.1 → NP_001404331.1 troponin T, slow skeletal muscle isoform 6

Status: REVIEWED

Source sequence(s)

AC161218
NM_011618.2 → NP_035748.1 troponin T, slow skeletal muscle isoform 2

See identical proteins and their annotated locations for NP_035748.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2, also known as high Mr isoform 2), compared to isoform 1.

Source sequence(s)

AK160226

Consensus CDS

CCDS51973.1

UniProtKB/TrEMBL

B7ZNV4, Q3TVB8

Related

ENSMUSP00000071704.7, ENSMUST00000071798.13

Conserved Domains (1) summary

pfam00992
Location:68 → 204

Troponin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

4507568..4518974 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322114.2 → XP_017177603.1 troponin T, slow skeletal muscle isoform X4

UniProtKB/TrEMBL

B7ZNV4

Conserved Domains (1) summary

pfam00992
Location:97 → 233

Troponin
XM_017322113.2 → XP_017177602.1 troponin T, slow skeletal muscle isoform X3

UniProtKB/TrEMBL

B7ZNV4

Conserved Domains (1) summary

pfam00992
Location:98 → 234

Troponin
XM_017322112.2 → XP_017177601.1 troponin T, slow skeletal muscle isoform X2

UniProtKB/TrEMBL

B7ZNV4

Conserved Domains (1) summary

pfam00992
Location:108 → 244

Troponin
XM_017322111.2 → XP_017177600.1 troponin T, slow skeletal muscle isoform X1

UniProtKB/TrEMBL

B7ZNV4

Conserved Domains (1) summary

pfam00992
Location:109 → 245

Troponin
XM_011250478.3 → XP_011248780.1 troponin T, slow skeletal muscle isoform X6

Conserved Domains (1) summary

pfam00992
Location:88 → 224

Troponin
XM_011250477.3 → XP_011248779.1 troponin T, slow skeletal muscle isoform X5

Conserved Domains (1) summary

pfam00992
Location:89 → 225

Troponin