Tnnc1 troponin C, cardiac/slow skeletal [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tnnc1provided by MGI
Official Full Name: troponin C, cardiac/slow skeletalprovided by MGI
Primary source: MGI:MGI:98779
See related: Ensembl:ENSMUSG00000091898 AllianceGenome:MGI:98779
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TnC; cTnC; cTnI; tncc
Summary: Enables actin filament binding activity. Involved in regulation of ATPase activity and regulation of muscle filament sliding speed. Acts upstream of or within transition between fast and slow fiber. Predicted to be located in contractile fiber. Predicted to be part of cardiac Troponin complex. Is expressed in several structures, including alimentary system; heart; liver; metanephros; and skeletal muscle. Used to study hypertrophic cardiomyopathy 13. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1Z; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 13. Orthologous to human TNNC1 (troponin C1, slow skeletal and cardiac type). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 1462.3) and limb E14.5 (RPKM 100.7) See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 19.09 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (30930274..30933671)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (31208312..31211729)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Modulating the tension-time integral of the cardiac twitch prevents dilated cardiomyopathy in murine hearts.
Title: Modulating the tension-time integral of the cardiac twitch prevents dilated cardiomyopathy in murine hearts.
Sexual dimorphism in cardiac transcriptome associated with a troponin C murine model of hypertrophic cardiomyopathy.
Title: Sexual dimorphism in cardiac transcriptome associated with a troponin C murine model of hypertrophic cardiomyopathy.
Calcium binding kinetics of troponin C strongly modulate cooperative activation and tension kinetics in cardiac muscle.
Title: Calcium binding kinetics of troponin C strongly modulate cooperative activation and tension kinetics in cardiac muscle.
A region in cTnC associated with increased Ca(2+) sensitivity in skinned fibers was identified, an the F27W reporter mutation affected Ca(2+) sensitivity, maximal force, and ATPase activation of some mutants.
Title: Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C.
These results demonstrate that the L29Q mutation enhances the Ca(2+)-binding characteristics of cTnC and that when incorporated into cardiac myocytes, this mutant alters myocyte contractility.
Title: Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca2+ binding and myofilament contractility.
Overexpression of sTnC polypeptide in muscle cells is controlled by its rapid degradation.
Title: Overexpression of sTnC polypeptide in muscle cells is controlled by its rapid degradation.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14Mit13 (e-PCR), detects polymorphism
- UniSTS:127235

Tncc (e-PCR), detects polymorphism
- UniSTS:238170

AI874626 (e-PCR)
- UniSTS:180625

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables troponin I binding	IBA Inferred from Biological aspect of Ancestor more info
enables troponin I binding	ISO Inferred from Sequence Orthology more info
enables troponin T binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in diaphragm contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of muscle filament sliding speed	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to metal ion	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within transition between fast and slow fiber	IDA Inferred from Direct Assay more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of cardiac Troponin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cardiac Troponin complex	ISO Inferred from Sequence Orthology more info
located_in contractile muscle fiber	ISO Inferred from Sequence Orthology more info
part_of troponin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: troponin C, slow skeletal and cardiac muscles

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.