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Protein

Troponin C, slow skeletal and cardiac muscles

Gene

TNNC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi65 – 761Add BLAST12
Calcium bindingi105 – 1162Add BLAST12
Calcium bindingi141 – 1523Add BLAST12

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

Keywordsi

Molecular functionMuscle protein
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction

Names & Taxonomyi

Protein namesi
Recommended name:
Troponin C, slow skeletal and cardiac muscles
Short name:
TN-C
Gene namesi
Name:TNNC1
Synonyms:TNNC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114854.7
HGNCiHGNC:11943 TNNC1
MIMi191040 gene
neXtProtiNX_P63316

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1Z (CMD1Z)1 Publication
The disease is caused by mutations 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.
See also OMIM:611879
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043988159G → R in CMD1Z. 1 Publication1
Cardiomyopathy, familial hypertrophic 13 (CMH13)4 Publications
The disease is caused by mutations 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.
See also OMIM:613243
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0630708A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607125EnsemblClinVar.1
Natural variantiVAR_01977629L → 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_06307184C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607126EnsemblClinVar.1
Natural variantiVAR_063072134E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs397516847EnsemblClinVar.1
Natural variantiVAR_063073145D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607124EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi7134
GeneReviewsiTNNC1
MalaCardsiTNNC1
MIMi611879 phenotype
613243 phenotype
OpenTargetsiENSG00000114854
Orphaneti154 Familial isolated dilated cardiomyopathy
155 Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA36632

Chemistry databases

ChEMBLiCHEMBL2095202
DrugBankiDB01375 Aluminium monostearate
DB01244 Bepridil
DB01373 Calcium
DB01023 Felodipine
DB00922 Levosimendan
DB04513 N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide
DB00831 Trifluoperazine

Polymorphism and mutation databases

BioMutaiTNNC1
DMDMi54042075

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000736971 – 161Troponin C, slow skeletal and cardiac musclesAdd BLAST161

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine1 Publication1
Modified residuei98PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP63316
PaxDbiP63316
PeptideAtlasiP63316
PRIDEiP63316
ProteomicsDBi57520

PTM databases

iPTMnetiP63316
PhosphoSitePlusiP63316

Expressioni

Gene expression databases

BgeeiENSG00000114854
CleanExiHS_TNNC1
ExpressionAtlasiP63316 baseline and differential
GenevisibleiP63316 HS

Organism-specific databases

HPAiCAB002450
HPA044848
HPA056897

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TNNI1P192373EBI-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

BioGridi112988, 23 interactors
ComplexPortaliCPX-3280 Cardiac Troponin complex
IntActiP63316, 8 interactors
STRINGi9606.ENSP00000232975

Structurei

Secondary structure

1161
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 9Combined sources7
Helixi14 – 25Combined sources12
Turni30 – 32Combined sources3
Beta strandi35 – 37Combined sources3
Helixi38 – 47Combined sources10
Beta strandi51 – 53Combined sources3
Helixi54 – 64Combined sources11
Beta strandi66 – 68Combined sources3
Beta strandi71 – 73Combined sources3
Helixi74 – 85Combined sources12
Helixi86 – 89Combined sources4
Beta strandi90 – 92Combined sources3
Helixi94 – 104Combined sources11
Beta strandi106 – 108Combined sources3
Beta strandi109 – 112Combined sources4
Helixi114 – 123Combined sources10
Beta strandi124 – 126Combined sources3
Helixi130 – 140Combined sources11
Beta strandi144 – 149Combined sources6
Helixi150 – 157Combined sources8
Turni158 – 160Combined sources3

3D structure databases

ProteinModelPortaliP63316
SMRiP63316
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP63316

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 51EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini52 – 87EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini92 – 127EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini128 – 161EF-hand 4PROSITE-ProRule annotationAdd BLAST34

Sequence similaritiesi

Belongs to the troponin C family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00760000118901
HOGENOMiHOG000233018
HOVERGENiHBG012180
InParanoidiP63316
KOiK05865
OMAiMNDIYKA
OrthoDBiEOG091G0QHM
PhylomeDBiP63316
TreeFamiTF318191

Family and domain databases

CDDicd00051 EFh, 2 hits
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
PF13833 EF-hand_8, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 4 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 3 hits
PS50222 EF_HAND_2, 4 hits

Sequencei

Sequence statusi: Complete.

P63316-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:161
Mass (Da):18,403
Last modified:October 11, 2004 - v1
Checksum:i34DCCC46D503A312
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti96Missing in AAB91994 (Ref. 4) Curated1
Sequence conflicti115D → E AA sequence (PubMed:3951483).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0630708A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607125EnsemblClinVar.1
Natural variantiVAR_01977629L → 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_06307184C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607126EnsemblClinVar.1
Natural variantiVAR_063072134E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs397516847EnsemblClinVar.1
Natural variantiVAR_063073145D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607124EnsemblClinVar.1
Natural variantiVAR_043988159G → R in CMD1Z. 1 Publication1

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
CCDSiCCDS2857.1
RefSeqiNP_003271.1, NM_003280.2
UniGeneiHs.118845

Genome annotation databases

EnsembliENST00000232975; ENSP00000232975; ENSG00000114854
GeneIDi7134
KEGGihsa:7134

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTNNC1_HUMAN
AccessioniPrimary (citable) accession number: P63316
Secondary accession number(s): O14800, P02590, P04463
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: October 11, 2004
Last modified: July 18, 2018
This is version 141 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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