TNNC1
entrez
7134
canonical
uniprot
P63316
canonical
ensembl
ENSG00000114854
resolver
ensp
ENSP00000232975
resolver
enst
ENST00000232975
resolver
genesymbol
TNNC1
resolver
genesymbol_syn
TNNC
resolver
hgnc
HGNC:11943
resolver
uniprot
A0A024R2Z4
resolver
uniprot
O14800
resolver
uniprot
P02590
resolver
uniprot
P04463
resolver
uniprot
Q6FH91
resolver
uniprot_entry
Q6FH91_HUMAN
resolver
uniprot_entry
TNNC1_HUMAN
resolver
uniprot_sec
A0A024R2Z4
resolver
uniprot_sec
O14800
resolver
uniprot_sec
P02590
resolver
uniprot_sec
P04463
resolver
amino_acid_sequence
MDDIYKAAVEQLTEEQKNEFKAAFDIFVLGAEDGCISTKELGKVMRMLGQNPTPEELQEMIDEVDEDGSGTVDFDEFLVMMVRCMKDDSKGKSEEELSDLFRMFDKNADGYIDLDELKIMLQATGETITEDDIEELMKDGDKNNDGRIDYDEFLEFMKGVE
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 1Z (CMD1Z) [MIM:611879]: 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:15542288}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243]: 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:11385718, ECO:0000269|PubMed:16302972, ECO:0000269|PubMed:18572189, ECO:0000269|PubMed:19439414}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.
uniprot
proteins
mass_dalton
18403
uniprot
proteins
protein_family
Troponin C family
uniprot
proteins
pubmed
11385718
uniprot
proteins
pubmed
12732641
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15542288
uniprot
proteins
pubmed
16302972
uniprot
proteins
pubmed
18572189
uniprot
proteins
pubmed
19439414
uniprot
proteins
pubmed
2250022
uniprot
proteins
pubmed
3166492
uniprot
proteins
pubmed
3951483
uniprot
proteins
pubmed
9219516
uniprot
proteins
pubmed
9315850
uniprot
proteins
sequence_length
161
uniprot
proteins