Tnni3 troponin I, cardiac 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tnni3provided by MGI
Official Full Name: troponin I, cardiac 3provided by MGI
Primary source: MGI:MGI:98783
See related: Ensembl:ENSMUSG00000035458 AllianceGenome:MGI:98783
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: Tn1; cTnI
Summary: Predicted to enable several functions, including calcium channel inhibitor activity; calcium-dependent protein binding activity; and cytoskeletal protein binding activity. Acts upstream of or within several processes, including cellular calcium ion homeostasis; circulatory system development; and regulation of systemic arterial blood pressure by ischemic conditions. Located in sarcomere. Is expressed in several structures, including alimentary system; central nervous system; heart; integumental system; and sensory organ. Used to study hypertrophic cardiomyopathy 7 and restrictive cardiomyopathy. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple). Orthologous to human TNNI3 (troponin I3, cardiac type). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward heart adult (RPKM 2467.4) See more
Orthologs: human all
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Genomic context

Location:: 7 A1; 7 2.61 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (4521304..4526228, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (4518305..4522718, 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?

Extracellular Histone-Induced Protein Kinase C Alpha Activation and Troponin Phosphorylation Is a Potential Mechanism of Cardiac Contractility Depression in Sepsis.
Title: Extracellular Histone-Induced Protein Kinase C Alpha Activation and Troponin Phosphorylation Is a Potential Mechanism of Cardiac Contractility Depression in Sepsis.
Cardiac Troponin I R193H Mutation Is Associated with Mitochondrial Damage in Cardiomyocytes.
Title: Cardiac Troponin I R193H Mutation Is Associated with Mitochondrial Damage in Cardiomyocytes.
Pim-1 is a novel kinase that phosphorylates cTnI primarily at Ser23/24 and Ser150 in cardiomyocytes, which in turn may modulate myofilament function under a variety of physiological and pathophysiological conditions.
Title: Pim-1 Kinase Phosphorylates Cardiac Troponin I and Regulates Cardiac Myofilament Function.
Hyperphosphorylation of this serine199 in cTnI C terminus impacts heart function by depressing diastolic function at baseline and limiting systolic reserve under physiological stresses. Paradoxically, it preserves heart function after ischemia/reperfusion injury, potentially by decreasing proteolysis of cTnI.
Title: Heart Failure-Related Hyperphosphorylation in the Cardiac Troponin I C Terminus Has Divergent Effects on Cardiac Function In Vivo.
The contributions of cardiac myosin binding protein C and troponin I phosphorylation to beta-adrenergic enhancement of in vivo cardiac function
Title: The contributions of cardiac myosin binding protein C and troponin I phosphorylation to β-adrenergic enhancement of in vivo cardiac function.
The difference in myosin regulatory light chain phosphorylation between the ventricles of R21C(+/+) in cardiac troponin I mice likely contributes to observed differences in contractile force and the lower tension monitored in the LV of HCM mice
Title: The R21C Mutation in Cardiac Troponin I Imposes Differences in Contractile Force Generation between the Left and Right Ventricles of Knock-In Mice.
troponin I phosphorylation specifically alters the Ca(2+) sensitivity of isometric tension and the time course of relaxation in cardiac muscle myofibrils
Title: The dilated cardiomyopathy-causing mutation ACTC E361G in cardiac muscle myofibrils specifically abolishes modulation of Ca(2+) regulation by phosphorylation of troponin I.
Combined troponin I Ser-150 and Ser-23/24 phosphorylation sustains thin filament Ca(2+) sensitivity playing an adaptive role to preserve contraction during acidic ischemia.
Title: Combined troponin I Ser-150 and Ser-23/24 phosphorylation sustains thin filament Ca(2+) sensitivity and accelerates deactivation in an acidic environment.
these results indicate that the inability to enhance myofilament relaxation through cTnI phosphorylation predisposes the heart to abnormal diastolic function, reduced accessibility of cardiac reserves, dysautonomia, and hypertrophy.
Title: Long term ablation of protein kinase A (PKA)-mediated cardiac troponin I phosphorylation leads to excitation-contraction uncoupling and diastolic dysfunction in a knock-in mouse model of hypertrophic cardiomyopathy.
Dominant negative TnI-TnT interface mutation decreases the binding affinity of cTnI for TnT, causes early ventricular remodeling, and blunts the beta-adrenergic response of cardiac myocytes.
Title: A dominantly negative mutation in cardiac troponin I at the interface with troponin T causes early remodeling in ventricular cardiomyocytes.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tnni3 (e-PCR), detects polymorphism
- UniSTS:144662

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables calcium channel inhibitor activity	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables troponin C 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 heart contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle contraction by calcium ion signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of smooth muscle contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of systemic arterial blood pressure by ischemic conditions	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within striated muscle contraction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within vasculogenesis	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	ISO Inferred from Sequence Orthology more info
located_in cardiac myofibril	ISO Inferred from Sequence Orthology more info
located_in contractile muscle fiber	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in myofibril	ISO Inferred from Sequence Orthology more info
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
located_in sarcomere	ISO Inferred from Sequence Orthology more info	PubMed
part_of troponin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of troponin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: troponin I, cardiac muscle

Names: cardiac troponin I

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_009406.4 → NP_033432.1 troponin I, cardiac muscle

See identical proteins and their annotated locations for NP_033432.1

Status: VALIDATED

Source sequence(s)

AI843419, BC061171, BY115313

Consensus CDS

CCDS39736.1

UniProtKB/Swiss-Prot

P48787

UniProtKB/TrEMBL

Q497F1

Related

ENSMUSP00000096458.4, ENSMUST00000098859.10

Conserved Domains (2) summary

pfam00992
Location:47 → 178

Troponin; Troponin

pfam11636
Location:1 → 32

Troponin-I_N; Troponin I residues 1-32

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

4521304..4526228 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322110.2 → XP_017177599.1 troponin I, cardiac muscle isoform X1

Conserved Domains (2) summary

pfam00992
Location:55 → 186

Troponin

pfam11636
Location:1 → 40

Troponin-I_N; Troponin I residues 1-32