InnateDB Protein
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IDBP-38999.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TNNC1
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Protein Name
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troponin C type 1 (slow)
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Synonyms
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CMD1Z; CMH13; TN-C; TNC; TNNC;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000232975
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InnateDB Gene
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IDBG-38997 (TNNC1)
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Protein Structure
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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.
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Subcellular Localization |
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Disease Associations |
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:0000269PubMed:15542288}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:11385718, ECO:0000269PubMed:18572189}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
16
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002048
EF-hand domain
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PFAM |
PF00036
PF13202
PF13405
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PRINTS |
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PIRSF |
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SMART |
SM00054
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TIGRFAMs |
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Modification |
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SwissProt |
P63316
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PhosphoSite |
PhosphoSite-P63316
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TrEMBL |
Q6FH91
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UniProt Splice Variant |
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Entrez Gene |
7134
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UniGene |
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RefSeq |
NP_003271
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HUGO |
HGNC:11943
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OMIM |
191040
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CCDS |
CCDS2857
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HPRD |
08930
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IMGT |
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EMBL |
AC006208
AF020769
AK313743
BC030244
CH471055
CR541865
CR541885
GU324920
M37984
X07897
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GenPept |
AAA36772
AAB91994
AAH30244
ADL14491
BAG36483
CAA30736
CAG46663
CAG46683
EAW65226
EAW65227
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