InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TNNI3

Summary

InnateDB Protein

IDBP-70220.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TNNI3

Protein Name

troponin I type 3 (cardiac)

Synonyms

CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000341838

InnateDB Gene

IDBG-70218 (TNNI3)

Protein Structure

UniProt Annotation

Function

Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Subcellular Localization

Disease Associations

Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:11815426, ECO:0000269PubMed:12707239, ECO:0000269PubMed:12974739, ECO:0000269PubMed:16199542, ECO:0000269PubMed:9241277}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269PubMed:12531876}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 2A (CMD2A) [MIM:611880]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:15070570}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:19590045, ECO:0000269PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0019855	calcium channel inhibitor activity
GO:0019901	protein kinase binding
GO:0019904	protein domain specific binding
GO:0030172	troponin C binding
GO:0031014	troponin T binding
GO:0046872	metal ion binding
GO:0048306	calcium-dependent protein binding

Biological Process

GO:0001570	vasculogenesis
GO:0001980	regulation of systemic arterial blood pressure by ischemic conditions
GO:0006874	cellular calcium ion homeostasis
GO:0006937	regulation of muscle contraction
GO:0006940	regulation of smooth muscle contraction
GO:0006941	striated muscle contraction
GO:0007507	heart development
GO:0030049	muscle filament sliding
GO:0032780	negative regulation of ATPase activity
GO:0055010	ventricular cardiac muscle tissue morphogenesis
GO:0060047	heart contraction
GO:0060048	cardiac muscle contraction