UniProt functional annotation for P45379



	UniProt functional annotation for P45379

UniProt code: P45379.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Tissue specificity: Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart.

Ptm: Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity. {ECO:0000250}.

Disease: Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: 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:10525521, ECO:0000269|PubMed:11034944, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:21846512, ECO:0000269|PubMed:7898523, ECO:0000269|PubMed:8205619, ECO:0000269|PubMed:8989109, ECO:0000269|PubMed:9060892, ECO:0000269|PubMed:9140840, ECO:0000269|PubMed:9482583, ECO:0000269|Ref.19}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: 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:11106718, ECO:0000269|PubMed:11684629, ECO:0000269|PubMed:15542288, ECO:0000269|PubMed:15769782, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Cardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: 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:16651346}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the troponin T family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.


Tissue specificity:		Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart.
Ptm:		Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity. {ECO:0000250}.
Disease:		Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: 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:10525521, ECO:0000269\|PubMed:11034944, ECO:0000269\|PubMed:12707239, ECO:0000269\|PubMed:12974739, ECO:0000269\|PubMed:15563892, ECO:0000269\|PubMed:16199542, ECO:0000269\|PubMed:21846512, ECO:0000269\|PubMed:7898523, ECO:0000269\|PubMed:8205619, ECO:0000269\|PubMed:8989109, ECO:0000269\|PubMed:9060892, ECO:0000269\|PubMed:9140840, ECO:0000269\|PubMed:9482583, ECO:0000269\|Ref.19}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: 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:11106718, ECO:0000269\|PubMed:11684629, ECO:0000269\|PubMed:15542288, ECO:0000269\|PubMed:15769782, ECO:0000269\|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Cardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: 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:16651346}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the troponin T family. {ECO:0000305}.