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UniProtKB - P63316 (TNNC1_HUMAN)
Protein
Troponin C, slow skeletal and cardiac muscles
Gene
TNNC1
Organism
Homo sapiens (Human)
Status
Functioni
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.
Miscellaneous
Cardiac muscle Tn-C can bind 3 calcium ions per molecule. Domain I does not bind calcium.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 65 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 67 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 69 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 71 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 76 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 105 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 107 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 109 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 111 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 116 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 141 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 143 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 145 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 147 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 152 | Calcium 3PROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- actin filament binding Source: BHF-UCL
- calcium-dependent protein binding Source: UniProtKB
- calcium ion binding Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
- troponin I binding Source: BHF-UCL
- troponin T binding Source: UniProtKB
GO - Biological processi
- cardiac muscle contraction Source: CAFA
- diaphragm contraction Source: Ensembl
- regulation of ATP-dependent activity Source: BHF-UCL
- regulation of muscle contraction Source: BHF-UCL
- regulation of muscle filament sliding speed Source: BHF-UCL
- response to metal ion Source: Ensembl
- skeletal muscle contraction Source: GO_Central
- transition between fast and slow fiber Source: Ensembl
- ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Keywordsi
Molecular function | Muscle protein |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | P63316 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SignaLinki | P63316 |
Names & Taxonomyi
Protein namesi | Recommended name: Troponin C, slow skeletal and cardiac musclesShort name: TN-C |
Gene namesi | Name:TNNC1 Synonyms:TNNC |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11943, TNNC1 |
MIMi | 191040, gene |
neXtProti | NX_P63316 |
VEuPathDBi | HostDB:ENSG00000114854 |
Subcellular locationi
Cytoskeleton
- cardiac Troponin complex Source: CAFA
- troponin complex Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Pathology & Biotechi
Involvement in diseasei
Cardiomyopathy, dilated 1Z (CMD1Z)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043988 | 159 | G → D in CMD1Z. 1 PublicationCorresponds to variant dbSNP:rs104893823EnsemblClinVar. | 1 |
Cardiomyopathy, familial hypertrophic 13 (CMH13)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063070 | 8 | A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607125EnsemblClinVar. | 1 | |
Natural variantiVAR_019776 | 29 | L → Q in CMH13; impairs protein kinase A dependent signaling from cardiac troponin I to troponin C. 2 PublicationsCorresponds to variant dbSNP:rs267607123EnsemblClinVar. | 1 | |
Natural variantiVAR_063071 | 84 | C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607126EnsemblClinVar. | 1 | |
Natural variantiVAR_063072 | 134 | E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs397516847EnsemblClinVar. | 1 | |
Natural variantiVAR_063073 | 145 | D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607124EnsemblClinVar. | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 7134 |
GeneReviewsi | TNNC1 |
MalaCardsi | TNNC1 |
MIMi | 611879, phenotype 613243, phenotype |
OpenTargetsi | ENSG00000114854 |
Orphaneti | 154, Familial isolated dilated cardiomyopathy 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
PharmGKBi | PA36632 |
Miscellaneous databases
Pharosi | P63316, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2095202 |
DrugBanki | DB03944, 5-[1-(3,4-Dimethoxy-Benzoyl)-1,2,3,4-Tetrahydro-Quinolin-6-Yl]-6-Methyl-3,6-Dihydro-[1,3,4]Thiadiazin-2-One DB01375, Aluminium monostearate DB01244, Bepridil DB01373, Calcium DB01023, Felodipine DB00922, Levosimendan DB04513, N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide DB00831, Trifluoperazine |
DrugCentrali | P63316 |
Genetic variation databases
BioMutai | TNNC1 |
DMDMi | 54042075 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073697 | 1 – 161 | Troponin C, slow skeletal and cardiac musclesAdd BLAST | 161 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionine1 Publication | 1 | |
Modified residuei | 98 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P63316 |
jPOSTi | P63316 |
MassIVEi | P63316 |
PaxDbi | P63316 |
PeptideAtlasi | P63316 |
PRIDEi | P63316 |
ProteomicsDBi | 57520 |
PTM databases
iPTMneti | P63316 |
PhosphoSitePlusi | P63316 |
Expressioni
Gene expression databases
Bgeei | ENSG00000114854, Expressed in triceps brachii and 167 other tissues |
ExpressionAtlasi | P63316, baseline and differential |
Genevisiblei | P63316, HS |
Organism-specific databases
HPAi | ENSG00000114854, Group enriched (heart muscle, skeletal muscle, tongue) |
Interactioni
Binary interactionsi
P63316
With | #Exp. | IntAct |
---|---|---|
TNNI1 [P19237] | 5 | EBI-3906339,EBI-746692 |
GO - Molecular functioni
- actin filament binding Source: BHF-UCL
- calcium-dependent protein binding Source: UniProtKB
- protein homodimerization activity Source: BHF-UCL
- troponin I binding Source: BHF-UCL
- troponin T binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112988, 28 interactors |
ComplexPortali | CPX-3280, Cardiac Troponin complex |
IntActi | P63316, 10 interactors |
STRINGi | 9606.ENSP00000232975 |
Miscellaneous databases
RNActi | P63316, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | P63316 |
BMRBi | P63316 |
SMRi | P63316 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P63316 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 16 – 51 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 52 – 87 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 92 – 127 | EF-hand 3PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 128 – 161 | EF-hand 4PROSITE-ProRule annotationAdd BLAST | 34 |
Sequence similaritiesi
Belongs to the troponin C family.Curated
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000153541 |
HOGENOMi | CLU_061288_2_5_1 |
InParanoidi | P63316 |
OMAi | QKSEFRA |
OrthoDBi | 1386217at2759 |
PhylomeDBi | P63316 |
TreeFami | TF318191 |
Family and domain databases
CDDi | cd00051, EFh, 2 hits |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit PF13833, EF-hand_8, 1 hit |
SMARTi | View protein in SMART SM00054, EFh, 4 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 3 hits PS50222, EF_HAND_2, 4 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P63316-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDDIYKAAVE QLTEEQKNEF KAAFDIFVLG AEDGCISTKE LGKVMRMLGQ
60 70 80 90 100
NPTPEELQEM IDEVDEDGSG TVDFDEFLVM MVRCMKDDSK GKSEEELSDL
110 120 130 140 150
FRMFDKNADG YIDLDELKIM LQATGETITE DDIEELMKDG DKNNDGRIDY
160
DEFLEFMKGV E
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9JDI3 | C9JDI3_HUMAN | Troponin C, slow skeletal and cardi... | TNNC1 | 99 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 96 | Missing in AAB91994 (Ref. 4) Curated | 1 | |
Sequence conflicti | 115 | D → E AA sequence (PubMed:3951483).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063070 | 8 | A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607125EnsemblClinVar. | 1 | |
Natural variantiVAR_019776 | 29 | L → Q in CMH13; impairs protein kinase A dependent signaling from cardiac troponin I to troponin C. 2 PublicationsCorresponds to variant dbSNP:rs267607123EnsemblClinVar. | 1 | |
Natural variantiVAR_063071 | 84 | C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607126EnsemblClinVar. | 1 | |
Natural variantiVAR_063072 | 134 | E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs397516847EnsemblClinVar. | 1 | |
Natural variantiVAR_063073 | 145 | D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607124EnsemblClinVar. | 1 | |
Natural variantiVAR_043988 | 159 | G → D in CMD1Z. 1 PublicationCorresponds to variant dbSNP:rs104893823EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X07897 mRNA Translation: CAA30736.1 M37984 Genomic DNA Translation: AAA36772.1 AF020769 mRNA Translation: AAB91994.1 BC030244 mRNA Translation: AAH30244.1 |
CCDSi | CCDS2857.1 |
RefSeqi | NP_003271.1, NM_003280.2 |
Genome annotation databases
Ensembli | ENST00000232975.8; ENSP00000232975.3; ENSG00000114854.8 |
GeneIDi | 7134 |
KEGGi | hsa:7134 |
MANE-Selecti | ENST00000232975.8; ENSP00000232975.3; NM_003280.3; NP_003271.1 |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X07897 mRNA Translation: CAA30736.1 M37984 Genomic DNA Translation: AAA36772.1 AF020769 mRNA Translation: AAB91994.1 BC030244 mRNA Translation: AAH30244.1 |
CCDSi | CCDS2857.1 |
RefSeqi | NP_003271.1, NM_003280.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1AP4 | NMR | - | A | 1-89 | [»] | |
1IH0 | NMR | - | A | 91-161 | [»] | |
1J1D | X-ray | 2.61 | A/D | 1-161 | [»] | |
1J1E | X-ray | 3.30 | A/D | 1-161 | [»] | |
1LXF | NMR | - | C | 1-89 | [»] | |
1MXL | NMR | - | C | 1-89 | [»] | |
1OZS | NMR | - | A | 90-161 | [»] | |
1SPY | NMR | - | A | 1-89 | [»] | |
1WRK | X-ray | 2.15 | A/B | 1-88 | [»] | |
1WRL | X-ray | 2.60 | A/B/C/D/E/F | 1-88 | [»] | |
2JT0 | NMR | - | A | 1-161 | [»] | |
2JT3 | NMR | - | A | 1-161 | [»] | |
2JT8 | NMR | - | A | 1-161 | [»] | |
2JTZ | NMR | - | A | 1-161 | [»] | |
2JXL | NMR | - | A | 1-89 | [»] | |
2KDH | NMR | - | A | 91-161 | [»] | |
2KFX | NMR | - | T | 1-89 | [»] | |
2KGB | NMR | - | C | 1-89 | [»] | |
2KRD | NMR | - | C | 1-89 | [»] | |
2L1R | NMR | - | A | 1-89 | [»] | |
2L98 | NMR | - | A | 91-161 | [»] | |
2MKP | NMR | - | C | 1-89 | [»] | |
2MLE | NMR | - | C | 91-161 | [»] | |
2MLF | NMR | - | C | 91-161 | [»] | |
2MZP | NMR | - | C | 1-89 | [»] | |
2N79 | NMR | - | C | 1-89 | [»] | |
2N7L | NMR | - | C | 1-89 | [»] | |
3RV5 | X-ray | 2.20 | A/B/C/D | 1-89 | [»] | |
3SD6 | X-ray | 1.37 | A | 1-89 | [»] | |
3SWB | X-ray | 1.67 | A | 1-89 | [»] | |
4GJE | X-ray | 1.60 | A | 1-89 | [»] | |
4GJF | X-ray | 1.90 | A | 1-89 | [»] | |
4GJG | X-ray | 2.00 | A | 1-89 | [»] | |
4Y99 | X-ray | 2.00 | A | 1-161 | [»] | |
5VLN | NMR | - | A | 1-92 | [»] | |
5W88 | NMR | - | A | 1-90 | [»] | |
5WCL | NMR | - | A | 1-92 | [»] | |
6KN7 | electron microscopy | 6.60 | V/c | 2-161 | [»] | |
6KN8 | electron microscopy | 4.80 | V/c | 2-161 | [»] | |
6MV3 | NMR | - | A | 1-92 | [»] | |
7JGI | NMR | - | A | 1-92 | [»] | |
7SC2 | X-ray | 1.81 | A | 1-92 | [»] | |
7SC3 | X-ray | 2.23 | A | 1-92 | [»] | |
AlphaFoldDBi | P63316 | |||||
BMRBi | P63316 | |||||
SMRi | P63316 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112988, 28 interactors |
ComplexPortali | CPX-3280, Cardiac Troponin complex |
IntActi | P63316, 10 interactors |
STRINGi | 9606.ENSP00000232975 |
Chemistry databases
ChEMBLi | CHEMBL2095202 |
DrugBanki | DB03944, 5-[1-(3,4-Dimethoxy-Benzoyl)-1,2,3,4-Tetrahydro-Quinolin-6-Yl]-6-Methyl-3,6-Dihydro-[1,3,4]Thiadiazin-2-One DB01375, Aluminium monostearate DB01244, Bepridil DB01373, Calcium DB01023, Felodipine DB00922, Levosimendan DB04513, N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide DB00831, Trifluoperazine |
DrugCentrali | P63316 |
PTM databases
iPTMneti | P63316 |
PhosphoSitePlusi | P63316 |
Genetic variation databases
BioMutai | TNNC1 |
DMDMi | 54042075 |
Proteomic databases
EPDi | P63316 |
jPOSTi | P63316 |
MassIVEi | P63316 |
PaxDbi | P63316 |
PeptideAtlasi | P63316 |
PRIDEi | P63316 |
ProteomicsDBi | 57520 |
Protocols and materials databases
Antibodypediai | 3730, 442 antibodies from 34 providers |
DNASUi | 7134 |
Genome annotation databases
Ensembli | ENST00000232975.8; ENSP00000232975.3; ENSG00000114854.8 |
GeneIDi | 7134 |
KEGGi | hsa:7134 |
MANE-Selecti | ENST00000232975.8; ENSP00000232975.3; NM_003280.3; NP_003271.1 |
Organism-specific databases
CTDi | 7134 |
DisGeNETi | 7134 |
GeneCardsi | TNNC1 |
GeneReviewsi | TNNC1 |
HGNCi | HGNC:11943, TNNC1 |
HPAi | ENSG00000114854, Group enriched (heart muscle, skeletal muscle, tongue) |
MalaCardsi | TNNC1 |
MIMi | 191040, gene 611879, phenotype 613243, phenotype |
neXtProti | NX_P63316 |
OpenTargetsi | ENSG00000114854 |
Orphaneti | 154, Familial isolated dilated cardiomyopathy 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |
PharmGKBi | PA36632 |
VEuPathDBi | HostDB:ENSG00000114854 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000153541 |
HOGENOMi | CLU_061288_2_5_1 |
InParanoidi | P63316 |
OMAi | QKSEFRA |
OrthoDBi | 1386217at2759 |
PhylomeDBi | P63316 |
TreeFami | TF318191 |
Enzyme and pathway databases
PathwayCommonsi | P63316 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SignaLinki | P63316 |
Miscellaneous databases
BioGRID-ORCSi | 7134, 11 hits in 1069 CRISPR screens |
ChiTaRSi | TNNC1, human |
EvolutionaryTracei | P63316 |
GeneWikii | Troponin_C_type_1 |
GenomeRNAii | 7134 |
Pharosi | P63316, Tclin |
PROi | PR:P63316 |
RNActi | P63316, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114854, Expressed in triceps brachii and 167 other tissues |
ExpressionAtlasi | P63316, baseline and differential |
Genevisiblei | P63316, HS |
Family and domain databases
CDDi | cd00051, EFh, 2 hits |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit PF13833, EF-hand_8, 1 hit |
SMARTi | View protein in SMART SM00054, EFh, 4 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 3 hits PS50222, EF_HAND_2, 4 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | TNNC1_HUMAN | |
Accessioni | P63316Primary (citable) accession number: P63316 Secondary accession number(s): O14800, P02590, P04463 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 13, 1987 |
Last sequence update: | October 11, 2004 | |
Last modified: | May 25, 2022 | |
This is version 162 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families