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MGP003165

UniProt Annotations

Entry Information

Gene Name	troponin I type 3 (cardiac)
Protein Entry	TNNI3_HUMAN
UniProt ID	P19429
Species	Human

Comments

Comment type	Description
Disease	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:0000269\|PubMed:19590045, ECO:0000269\|PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:15070570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:11815426, ECO:0000269\|PubMed:12707239, ECO:0000269\|PubMed:12974739, ECO:0000269\|PubMed:16199542, ECO:0000269\|PubMed:9241277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:12531876}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Interaction	Q59H18:TNNI3K; NbExp=2; IntAct=EBI-704146, EBI-704142;
Ptm	Phosphorylated at Ser-42 and Ser-44 by PRKCE; phosphorylation increases myocardium contractile dysfunction (By similarity). Phosphorylated at Ser-23 and Ser-24 by PRKD1; phosphorylation reduces myofilament calcium sensitivity. Phosphorylated preferentially at Thr-31. Phosphorylation by STK4/MST1 alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T). {ECO:0000250, ECO:0000269\|PubMed:12242269, ECO:0000269\|PubMed:15514163, ECO:0000269\|PubMed:18986304, ECO:0000269\|PubMed:2226863, ECO:0000269\|PubMed:22972900, ECO:0000269\|PubMed:9346285}.
Similarity	Belongs to the troponin I family. {ECO:0000305}.
Subunit	Binds to actin and tropomyosin. Interacts with TRIM63. Interacts with STK4/MST1. {ECO:0000269\|PubMed:12060657, ECO:0000269\|PubMed:15601779, ECO:0000269\|PubMed:18986304}.