TNNI3
entrez
7137
canonical
uniprot
P19429
canonical
ensembl
ENSG00000129991
resolver
ensp
ENSP00000341838
resolver
enst
ENST00000344887
resolver
genesymbol
TNNI3
resolver
genesymbol_syn
TNNC1
resolver
hgnc
HGNC:11947
resolver
uniprot
Q6FGX2
resolver
uniprot_entry
Q6FGX2_HUMAN
resolver
uniprot_entry
TNNI3_HUMAN
resolver
amino_acid_sequence
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRCQPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLGARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES
uniprot
proteins
disease_involvement
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 variants 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 variants 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:19590045, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.; 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
uniprot
proteins
mass_dalton
24008
uniprot
proteins
post_translational_modification
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}.
uniprot
proteins
protein_family
Troponin I family
uniprot
proteins
pubmed
10387074
uniprot
proteins
pubmed
11815426
uniprot
proteins
pubmed
12060657
uniprot
proteins
pubmed
12242269
uniprot
proteins
pubmed
12531876
uniprot
proteins
pubmed
12707239
uniprot
proteins
pubmed
12974739
uniprot
proteins
pubmed
15070570
uniprot
proteins
pubmed
15514163
uniprot
proteins
pubmed
15601779
uniprot
proteins
pubmed
16199542
uniprot
proteins
pubmed
18986304
uniprot
proteins
pubmed
1934363
uniprot
proteins
pubmed
19590045
uniprot
proteins
pubmed
21846512
uniprot
proteins
pubmed
2226790
uniprot
proteins
pubmed
2226863
uniprot
proteins
pubmed
22972900
uniprot
proteins
pubmed
8406024
uniprot
proteins
pubmed
8661099
uniprot
proteins
pubmed
9241277
uniprot
proteins
pubmed
9346285
uniprot
proteins
sequence_length
210
uniprot
proteins