TNNI3
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq, Jul 2008]
Full Name
TNNI3 Gene(Protein Coding) Troponin I3, Cardiac Type
Function
Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Biological Process
Cardiac muscle contraction Source: UniProtKB
Cellular calcium ion homeostasis Source: UniProtKB
Heart contraction Source: UniProtKB
Heart development Source: UniProtKB
Muscle contraction Source: GO_Central
Muscle filament sliding Source: Reactome
Negative regulation of ATPase activity Source: UniProtKB
Regulation of cardiac muscle contraction by calcium ion signaling Source: CAFA
Regulation of systemic arterial blood pressure by ischemic conditions Source: UniProtKB
Skeletal muscle contraction Source: GO_Central
Vasculogenesis Source: UniProtKB
Ventricular cardiac muscle tissue morphogenesis Source: HGNC-UCL
Cellular Location
Cardiac Troponin complex; Troponin complex; Cytosol; Cardiac myofibril; Sarcomere
Involvement in disease
Cardiomyopathy, familial hypertrophic 7 (CMH7):
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.
Cardiomyopathy, familial restrictive 1 (RCM1):
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.
Cardiomyopathy, dilated 2A (CMD2A):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, dilated 1FF (CMD1FF):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
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).
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