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P63316

- TNNC1_HUMAN

UniProt

P63316 - TNNC1_HUMAN

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Protein
Troponin C, slow skeletal and cardiac muscles
Gene
TNNC1, TNNC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi65 – 76121
Add
BLAST
Calcium bindingi105 – 116122
Add
BLAST
Calcium bindingi141 – 152123
Add
BLAST

GO - Molecular functioni

  1. actin filament binding Source: BHF-UCL
  2. calcium ion binding Source: BHF-UCL
  3. calcium-dependent protein binding Source: UniProtKB
  4. protein binding Source: UniProtKB
  5. protein homodimerization activity Source: BHF-UCL
  6. troponin I binding Source: UniProtKB
  7. troponin T binding Source: UniProtKB

GO - Biological processi

  1. cardiac muscle contraction Source: BHF-UCL
  2. diaphragm contraction Source: Ensembl
  3. muscle filament sliding Source: Reactome
  4. regulation of ATPase activity Source: BHF-UCL
  5. regulation of muscle contraction Source: UniProtKB
  6. regulation of muscle filament sliding speed Source: BHF-UCL
  7. response to metal ion Source: Ensembl
  8. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_16969. 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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:11943. TNNC1.

Subcellular locationi

GO - Cellular componenti

  1. actin cytoskeleton Source: HPA
  2. cytosol Source: Reactome
  3. mitochondrion Source: HPA
  4. nucleus Source: HPA
  5. troponin complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti159 – 1591G → R in CMD1Z. 1 Publication
VAR_043988
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 Publications
VAR_063070
Natural varianti29 – 291L → Q in CMH13; impairs protein kinase A dependent signaling from cardiac troponin I to troponin C. 2 Publications
VAR_019776
Natural varianti84 – 841C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 Publications
VAR_063071
Natural varianti134 – 1341E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 Publications
VAR_063072
Natural varianti145 – 1451D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 Publications
VAR_063073

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi611879. phenotype.
613243. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA36632.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 161161Troponin C, slow skeletal and cardiac muscles
PRO_0000073697Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP63316.
PaxDbiP63316.
PRIDEiP63316.

PTM databases

PhosphoSiteiP63316.

Expressioni

Gene expression databases

ArrayExpressiP63316.
BgeeiP63316.
CleanExiHS_TNNC1.
GenevestigatoriP63316.

Organism-specific databases

HPAiCAB002450.
HPA044848.

Interactioni

Protein-protein interaction databases

BioGridi112988. 13 interactions.
IntActiP63316. 6 interactions.
STRINGi9606.ENSP00000232975.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi3 – 97
Helixi14 – 2512
Turni30 – 323
Beta strandi35 – 373
Helixi38 – 4710
Beta strandi51 – 533
Helixi54 – 6411
Beta strandi66 – 683
Beta strandi71 – 733
Helixi74 – 8512
Beta strandi90 – 923
Helixi94 – 10411
Beta strandi106 – 1083
Beta strandi109 – 1135
Helixi114 – 12310
Beta strandi124 – 1263
Helixi130 – 14011
Beta strandi145 – 1484
Helixi150 – 1578
Turni158 – 1603

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AP4NMR-A1-89[»]
1IH0NMR-A91-161[»]
1J1DX-ray2.61A/D1-161[»]
1J1EX-ray3.30A/D1-161[»]
1LXFNMR-C1-89[»]
1MXLNMR-C1-89[»]
1OZSNMR-A90-161[»]
1SPYNMR-A1-89[»]
1WRKX-ray2.15A/B1-88[»]
1WRLX-ray2.60A/B/C/D/E/F1-88[»]
2JT0NMR-A1-161[»]
2JT3NMR-A1-161[»]
2JT8NMR-A1-161[»]
2JTZNMR-A1-161[»]
2JXLNMR-A1-89[»]
2KDHNMR-A91-161[»]
2KFXNMR-T1-89[»]
2KGBNMR-C1-89[»]
2KRDNMR-C1-89[»]
2L1RNMR-A1-89[»]
2L98NMR-A91-161[»]
2MKPNMR-C1-89[»]
2MLENMR-C91-161[»]
2MLFNMR-C91-161[»]
3RV5X-ray2.20A/B/C/D1-89[»]
3SD6X-ray1.37A1-89[»]
3SWBX-ray1.67A1-89[»]
4GJEX-ray1.60A1-89[»]
4GJFX-ray1.90A1-89[»]
4GJGX-ray2.00A1-89[»]
ProteinModelPortaliP63316.
SMRiP63316. Positions 1-161.

Miscellaneous databases

EvolutionaryTraceiP63316.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini16 – 5136EF-hand 1
Add
BLAST
Domaini52 – 8736EF-hand 2
Add
BLAST
Domaini92 – 12736EF-hand 3
Add
BLAST
Domaini128 – 16134EF-hand 4
Add
BLAST

Sequence similaritiesi

Belongs to the troponin C family.
Contains 4 EF-hand domains.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5126.
HOGENOMiHOG000233018.
HOVERGENiHBG012180.
InParanoidiP63316.
KOiK05865.
OMAiMNDIYKA.
OrthoDBiEOG76X61W.
PhylomeDBiP63316.
TreeFamiTF318191.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 4 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P63316-1 [UniParc]FASTAAdd to Basket

« Hide

MDDIYKAAVE QLTEEQKNEF KAAFDIFVLG AEDGCISTKE LGKVMRMLGQ    50
NPTPEELQEM IDEVDEDGSG TVDFDEFLVM MVRCMKDDSK GKSEEELSDL 100
FRMFDKNADG YIDLDELKIM LQATGETITE DDIEELMKDG DKNNDGRIDY 150
DEFLEFMKGV E 161
Length:161
Mass (Da):18,403
Last modified:October 11, 2004 - v1
Checksum:i34DCCC46D503A312
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 Publications
VAR_063070
Natural varianti29 – 291L → Q in CMH13; impairs protein kinase A dependent signaling from cardiac troponin I to troponin C. 2 Publications
VAR_019776
Natural varianti84 – 841C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 Publications
VAR_063071
Natural varianti134 – 1341E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 Publications
VAR_063072
Natural varianti145 – 1451D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 Publications
VAR_063073
Natural varianti159 – 1591G → R in CMD1Z. 1 Publication
VAR_043988

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti96 – 961Missing in AAB91994. 1 Publication
Sequence conflicti115 – 1151D → E AA sequence 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc003deb.3. human.

Polymorphism databases

DMDMi54042075.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.118845.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
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 [» ]
ProteinModelPortali P63316.
SMRi P63316. Positions 1-161.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112988. 13 interactions.
IntActi P63316. 6 interactions.
STRINGi 9606.ENSP00000232975.

Chemistry

ChEMBLi CHEMBL2095202.
DrugBanki DB01244. Bepridil.
DB01375. Dihydroxyaluminium.
DB00922. Levosimendan.

PTM databases

PhosphoSitei P63316.

Polymorphism databases

DMDMi 54042075.

Proteomic databases

MaxQBi P63316.
PaxDbi P63316.
PRIDEi P63316.

Protocols and materials databases

DNASUi 7134.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000232975 ; ENSP00000232975 ; ENSG00000114854 .
GeneIDi 7134.
KEGGi hsa:7134.
UCSCi uc003deb.3. human.

Organism-specific databases

CTDi 7134.
GeneCardsi GC03M052485.
GeneReviewsi TNNC1.
HGNCi HGNC:11943. TNNC1.
HPAi CAB002450.
HPA044848.
MIMi 191040. gene.
611879. phenotype.
613243. phenotype.
neXtProti NX_P63316.
Orphaneti 154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBi PA36632.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5126.
HOGENOMi HOG000233018.
HOVERGENi HBG012180.
InParanoidi P63316.
KOi K05865.
OMAi MNDIYKA.
OrthoDBi EOG76X61W.
PhylomeDBi P63316.
TreeFami TF318191.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi TNNC1. human.
EvolutionaryTracei P63316.
GeneWikii Troponin_C_type_1.
GenomeRNAii 7134.
NextBioi 27913.
PROi P63316.
SOURCEi Search...

Gene expression databases

ArrayExpressi P63316.
Bgeei P63316.
CleanExi HS_TNNC1.
Genevestigatori P63316.

Family and domain databases

Gene3Di 1.10.238.10. 2 hits.
InterProi IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view ]
Pfami PF13499. EF-hand_7. 1 hit.
[Graphical view ]
SMARTi SM00054. EFh. 4 hits.
[Graphical view ]
PROSITEi PS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The amino acid sequence of human cardiac troponin-C."
    Roher A., Lieska N., Spitz W.
    Muscle Nerve 9:73-77(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE, ACETYLATION AT MET-1.
    Tissue: Heart muscle.
  2. "Differential expression of slow and fast skeletal muscle troponin C. Slow skeletal muscle troponin C is expressed in human fibroblasts."
    Gahlmann R., Wade R., Gunning R., Kedes L.
    J. Mol. Biol. 201:379-391(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Slow skeletal muscle.
  3. "Cloning, structural analysis, and expression of the human slow twitch skeletal muscle/cardiac troponin C gene."
    Schreier T., Kedes L., Gahlmann R.
    J. Biol. Chem. 265:21247-21253(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Slow skeletal muscle.
  4. "H. sapiens mRNA for cardiac ventricular troponin C in idiopathic dilated cardiomyopathy."
    Margossian S.S., Yang F., Umeda P.K., Sciaky D., Anderson P.A.W.
    Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Blood.
  6. "Calcium-induced structural transition in the regulatory domain of human cardiac troponin C."
    Spyracopoulos L., Li M.X., Sia S.K., Gagne S.M., Chandra M., Solaro R.J., Sykes B.D.
    Biochemistry 36:12138-12146(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 1-89.
    Tissue: Heart muscle.
  7. "Structural and functional domains of the troponin complex revealed by limited digestion."
    Takeda S., Kobayashi T., Taniguchi H., Hayashi H., Maeda Y.
    Eur. J. Biochem. 246:611-617(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.61 ANGSTROMS).
  8. "Structure and dynamics of the C-domain of human cardiac troponin C in complex with the inhibitory region of human cardiac troponin I."
    Lindhout D.A., Sykes B.D.
    J. Biol. Chem. 278:27024-27034(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 89-161.
    Tissue: Heart muscle.
  9. "First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy."
    Hoffmann B., Schmidt-Traub H., Perrot A., Osterziel K.J., Gessner R.
    Hum. Mutat. 17:524-524(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH13 GLN-29.
  10. "Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy."
    Mogensen J., Murphy R.T., Shaw T., Bahl A., Redwood C., Watkins H., Burke M., Elliott P.M., McKenna W.J.
    J. Am. Coll. Cardiol. 44:2033-2040(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMD1Z ARG-159.
  11. "Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C."
    Schmidtmann A., Lindow C., Villard S., Heuser A., Mugge A., Gessner R., Granier C., Jaquet K.
    FEBS J. 272:6087-6097(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT CMH13 GLN-29.
  12. "Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C."
    Landstrom A.P., Parvatiyar M.S., Pinto J.R., Marquardt M.L., Bos J.M., Tester D.J., Ommen S.R., Potter J.D., Ackerman M.J.
    J. Mol. Cell. Cardiol. 45:281-288(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH13 VAL-8; TYR-84; ASP-134 AND GLU-145, CHARACTERIZATION OF VARIANTS CMH13 VAL-8; TYR-84; ASP-134 AND GLU-145.
  13. "A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy."
    Pinto J.R., Parvatiyar M.S., Jones M.A., Liang J., Ackerman M.J., Potter J.D.
    J. Biol. Chem. 284:19090-19100(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS CMH13 VAL-8; TYR-84; ASP-134 AND GLU-145.

Entry informationi

Entry nameiTNNC1_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 110 of the entry and version 1 of the sequence. [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

Miscellaneous

Cardiac muscle Tn-C can bind 3 calcium ions per molecule. Domain I does not bind calcium.

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

External Data

Dasty 3

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