Property Summary

NCBI Gene PubMed Count 88
PubMed Score 10.79
PubTator Score 164.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 3.800 3.0e-09
psoriasis -3.000 6.7e-05
non-small cell lung cancer -4.464 4.8e-43
colon cancer 1.100 1.7e-02
lung cancer -2.100 5.5e-06
interstitial cystitis -1.100 7.2e-04
lung adenocarcinoma -3.200 8.6e-22
Endometriosis -1.358 2.8e-02
lung carcinoma -1.900 2.8e-22
pituitary cancer -2.400 4.3e-08

Protein-protein Interaction (13)

MLP Assay (12)

AID Type Active / Inconclusive / Inactive Description
493008 screening 801 / 0 / 334660 Fluorescence-based biochemical primary high throughput screening assay to identify activators of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
493018 summary 0 / 0 / 0 Summary of the probe development efforts to identify activators of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
493244 screening 390 / 0 / 335070 Fluorescence-based biochemical primary high throughput screening assay to identify inhibitors of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
504337 summary 0 / 0 / 0 Summary of the probe development efforts to identify inhibitors of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
504383 screening 1166 / 0 / 1301 Fluorescence-based biochemical high throughput confirmation assay for activators of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
504635 screening 30 / 0 / 328 Fluorescence-based biochemical high throughput confirmation assay for inhibitors of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
504698 confirmatory 76 / 0 / 168 Fluorescence-based biochemical high throughput dose response assay for activators of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
504742 confirmatory 14 / 0 / 18 Fluorescence-based biochemical high throughput dose response assay for inhibitors of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF)
602231 other 0 / 0 / 4 Assay provider mechanism-of-action assay for activators of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF): biochemical assay to identify activators of the Ca2+-sensitivity of cardiac muscle contraction/tension
602232 other 2 / 0 / 14 Assay provider mechanism-of-action assay for activators of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF): absorbance-based biochemical assay to identify sensitizers of the Ca2+ sensitivity of cardiac myofibrillar ATPase
More...

Gene RIF (56)

PMID Text
26341255 We used nuclear magnetic resonance and circular dichroism to solve the structure and characterize the backbone dynamics and stability of the regulatory domain of cTnC with the L29Q mutation.
26304555 conclusive evidence that TNNC1 is an uncommon but definitive HCM-susceptibility gene
26232335 Mutations in cTnC have been associated with hypertrophic or dilated cardiomyopathy.[review]
26111167 Troponin C (TnC) and the N-terminal helix of Troponin I (TnI N-helix), which occurs in vivo during muscle contraction.
25996354 Data suggest that mutation A162H in switch region of troponin I induces transitory curved conformation and promotes contraction of troponin I bound to regulatory domain of troponin C; this is countered by residue E164 to ensure proper relaxation.
25277212 FAK/CREB/TNNC1 has a role in mediating the effect of stromal MFAP5 on ovarian cancer metastatic potential
25246568 Data indicate that domain positioning impacts the effective concentration of cardiac isoform of troponin I (cTnI) presented to cardiac troponin C (cTnC).
25101951 The conformational dynamics of N-terminal lobe of TnC plays an important role in the regulation of cardiac muscle contraction.
24744096 in vitro characterisation of six cardiac Troponin C mutations causing hypertrophic and dilated cardiomyopathies (Review)
24650606 Central helix point mutations decreased affinity of Ca2+ saturated cardiac TNC for TnI128-180.
24490734 Toponin I, T, and C play crucial roles in muscle activity, connecting changes in intracellular Ca2+ concentration with generation of contraction. [review]
23633581 The structure of cardiac troponin C regulatory domain with bound Cd2+ reveals a closed conformation and unique ion coordination.
23554884 Calcium induced regulation of skeletal troponin--computational insights from molecular dynamics simulations.
23111626 calcium binding to the regulatory site of human cardiac troponin C
23066014 Significance of troponin dynamics for Ca2+-mediated regulation of contraction and inherited cardiomyopathy.
22815480 a novel mutation in the TNNC1 gene is associated with HCM pathogenesis and may predispose to the pathogenesis of a fatal arrhythmogenic subtype of HCM
22675533 The disease-related protein modifications alter Ca(2+) binding by influencing both the association and dissociation rates of thin filament Ca(2+) exchange.
22591429 The L48Q mutation enhanced binding of both Ca(2+) and troponin I to cardiac troponin C.
22489623 Cardiomyopathy-linked TnC mutations affect the response of reconstituted thin filaments to calcium upon cardiac troponin (Tn)I phosphorylation.
22329450 The study examines TNC for its ability of binding Ca2+ and furthermore determines the molecular contributions to Ca2+ binding kinetics.
21832052 Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.
21056975 strong cross-bridges potentiate the Ca(2+)-sensitizing effect of hypertrophic cardiomyopathy-cTnC mutants on the myofilament
20889975 analysis of order and disorder in troponin C, T and I
20566645 A region in cTnC associated with increased Ca(2+) sensitivity in skinned fibers was identified, an the F27W reporter mutation affected Ca(2+) sensitivity, maximal force, and ATPase activation of some mutants.
20459070 Calcium binding properties of the carboxy terminal-domain sites might be important for the proper regulatory function of cardiac troponin C.
20378771 After acute myocardial infarction, cTnI is present in serum as the ternary cTnT-cTnI-TnC (TIC) complex and binary cTnI-TnC (IC) complex.
20371872 the dilated cardiomyopathy troponin C mutation lowers contractile force by reducing strong myosin-actin binding
20215591 Four private protein-altering variants were identified in troponin C type 1 in 4 probands.
20215591 Observational study of gene-disease association. (HuGE Navigator)
20128626 The intrinsic properties of TnC and its interactions with other contractile proteins play a crucial role in modulating the binding of calcium to TnC in increasingly complex biochemical systems.
20031618 Observational study of gene-disease association. (HuGE Navigator)
19920153 cardiac troponin switches between alternative sets of intramolecular interactions, similar to previous intermediate resolution x-ray data of skeletal muscle troponin
19808376 Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle.
19542563 (-)-Epigallocatechin gallate forms a ternary complex with the C-terminal domain of troponin C and the anchoring region of troponin I.
19492165 plasma levels are associated with degree of vascular obstruction in patients with pulmonary embolism
19439414 analysis of troponin C mutations related to hypertrophic cardiomyopathy
18820258 the desensitization of myofilaments from G159D-CTnC is expected to weaken the contractile force of the myocardium, whereas the lack of myofilament changes from L29Q-CTnC may preserve diastolic and systolic function.
18803402 development of dilated cardiomyopathy results from the poor anchoring of cTnI to cCTnC, with the resulting increase in the level of acto-myosin inhibition in agreement with physiological data
18572189 A hypertrophic cardiomyopathy susceptibility gene.
18092822 These results suggest that the perturbations of the N-domain caused by the Trp mutation disturb the interaction between TnC and TnI, which in turn diminishes the activity in fibers.
18063575 kinetic analysis of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes
18042489 Modulation of cardiac troponin C function by the cardiac-specific N-terminus of troponin I: influence of PKA phosphorylation and involvement in cardiomyopathies.
18032382 A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin
17977476 A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy.
17693547 Suggest that TnC Ca(2+) binding properties modulate the rate of cardiac muscle contraction at submaximal levels of Ca(2+) activation.
17446435 in the presence of phosphorylated cTnI, cTnC-G159D specifically blunted phosphorylation induced decrease in Ca(2+)-sensitive tension development without altering cross-bridge cycling in cardiac myofilament
17021793 the mutation Gly159Asp causes a significant decrease in the rate of force production and a change in the relationship between the rate of force production and generated force in muscle
16302972 Results imply a hindered transduction of the protein kinase A phosphorylation signal from cardiac troponin I to troponin C.
16157641 Spin dipole-dipole interaction showed that in reconstituted muscle fibers both skeletal and cardiac TnC undergo Ca2+-induced structural change that is thought to be TnIreg movement.
16157639 The crystal structure of troponin suggests that the Ca2+-binding to the regulatory TnC site displaces the N-terminal portion of TnI from actin/tropomyosin, thereby altering mobility/flexibility of the troponin/tropomyosin strand on the actin filament.
15808858 Results describe the in situ structure of human cardiac troponin C.
15628883 C helix moves away from the D helix in a distinct Ca(2+)-dependent manner, while the B helix does not.
15524171 CTnI mutations mainly alter myocardial performance via changes in the Ca2+ -sensitivity of force development and in some cases alter the muscle relaxation kinetics. Review.
15147183 Data suggest that activation of cardiac myofilaments is tightly coupled to the open state of the N-domain of cardiac troponin C, and that pathological effects of phosphorylation are influenced by mutations in cardiac troponin I.
12732641 Structure and dynamics of the C-domain of human cardiac troponin C in complex with the inhibitory region of human cardiac troponin I.
1907279 HIV-1 protease hydrolyzes troponin C at amino acid residues 101-102

AA Sequence

MDDIYKAAVEQLTEEQKNEFKAAFDIFVLGAEDGCISTKELGKVMRMLGQNPTPEELQEMIDEVDEDGSG      1 - 70
TVDFDEFLVMMVRCMKDDSKGKSEEELSDLFRMFDKNADGYIDLDELKIMLQATGETITEDDIEELMKDG     71 - 140
DKNNDGRIDYDEFLEFMKGVE                                                     141 - 161
//

Text Mined References (86)

PMID Year Title
26341255 2015 The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q.
26304555 2015 In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.
26232335 2015 Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.
26111167 2015 Coarse-Grained Modeling of Peptide Docking Associated with Large Conformation Transitions of the Binding Protein: Troponin I Fragment-Troponin C System.
25996354 2015 Structure and Dynamics of the Acidosis-Resistant A162H Mutant of the Switch Region of Troponin I Bound to the Regulatory Domain of Troponin C.
25277212 2014 Calcium-dependent FAK/CREB/TNNC1 signalling mediates the effect of stromal MFAP5 on ovarian cancer metastatic potential.
25246568 2014 The cardiac-specific N-terminal region of troponin I positions the regulatory domain of troponin C.
25101951 2014 Regulatory domain of troponin moves dynamically during activation of cardiac muscle.
24744096 2014 Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.
24650606 2014 Molecular and functional consequences of mutations in the central helix of cardiac troponin C.
24490734 2013 Human cardiac troponin complex. Structure and functions.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23633581 2013 The structure of cardiac troponin C regulatory domain with bound Cd2+ reveals a closed conformation and unique ion coordination.
23554884 2013 Calcium induced regulation of skeletal troponin--computational insights from molecular dynamics simulations.
23111626 2013 Thermodynamics and molecular dynamics simulations of calcium binding to the regulatory site of human cardiac troponin C: evidence for communication with the structural calcium binding sites.
23066014 2012 Significance of troponin dynamics for Ca2+-mediated regulation of contraction and inherited cardiomyopathy.
22815480 2012 A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.
22675533 2012 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
22591429 2012 Structural and functional consequences of the cardiac troponin C L48Q Ca(2+)-sensitizing mutation.
22489623 2012 Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation.
22329450 2012 Dynamics and calcium association to the N-terminal regulatory domain of human cardiac troponin C: a multiscale computational study.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
21832052 2011 Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.
21056975 2011 Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.
20889975 2010 Low temperature dynamic mapping reveals unexpected order and disorder in troponin.
20566645 2010 Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C.
20459070 2010 Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
20378771 2010 Circulating immunoreactive cardiac troponin forms determined by gel filtration chromatography after acute myocardial infarction.
20371872 2010 A dilated cardiomyopathy troponin C mutation lowers contractile force by reducing strong myosin-actin binding.
20215591 2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
20128626 2010 Effect of calcium-sensitizing mutations on calcium binding and exchange with troponin C in increasingly complex biochemical systems.
20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
19920153 2010 Troponin regulatory function and dynamics revealed by H/D exchange-mass spectrometry.
19808376 2009 Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle.
19542563 2009 Solution structure of human cardiac troponin C in complex with the green tea polyphenol, (-)-epigallocatechin 3-gallate.
19492165 2009 Cardiac biomarkers levels predict pulmonary embolism extent on chest computed tomography and prognosis in non-massive pulmonary embolism.
19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
18820258 2008 Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of myofilaments containing cardiac troponin C mutations (G159D and L29Q) good predictors of the phenotypic outcomes?
18803402 2008 The dilated cardiomyopathy G159D mutation in cardiac troponin C weakens the anchoring interaction with troponin I.
18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
18092822 2008 Tryptophan mutants of cardiac troponin C: 3D structure, troponin I affinity, and in situ activity.
18063575 2008 Structural kinetics of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes.
18042489 2008 Modulation of cardiac troponin C function by the cardiac-specific N-terminus of troponin I: influence of PKA phosphorylation and involvement in cardiomyopathies.
18032382 2008 A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin.
17977476 2007 Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood.
17693547 2007 Modulation of the rate of cardiac muscle contraction by troponin C constructs with various calcium binding affinities.
17446435 2007 The troponin C G159D mutation blunts myofilament desensitization induced by troponin I Ser23/24 phosphorylation.
17021793 2007 Functional effects of the DCM mutant Gly159Asp troponin C in skinned muscle fibres.
16302972 2005 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.
16157641 2005 Dynamic structures of motor proteins myosin and kinesin, and switch protein troponin as detected by SDSL-ESR.
16157639 2005 Crystal structure of troponin and the molecular mechanism of muscle regulation.
15808858 2005 Calcium structural transition of human cardiac troponin C in reconstituted muscle fibres as studied by site-directed spin labelling.
15628883 2005 Site-directed spin labeling electron paramagnetic resonance study of the calcium-induced structural transition in the N-domain of human cardiac troponin C complexed with troponin I.
15542288 2004 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
15524171 2004 Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15147183 2004 Effects of protein kinase C dependent phosphorylation and a familial hypertrophic cardiomyopathy-related mutation of cardiac troponin I on structural transition of troponin C and myofilament activation.
15134451 2004 NMR and mutagenesis studies on the phosphorylation region of human cardiac troponin I.
15049709 2004 Characterization of the interaction between the N-terminal extension of human cardiac troponin I and troponin C.
12939162 2003 A cross-linking study of the N-terminal extension of human cardiac troponin I.
12840750 2003 Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form.
12732641 2003 Structure and dynamics of the C-domain of human cardiac troponin C in complex with the inhibitory region of human cardiac troponin I.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12122471 2002 Kinetic studies of calcium and cardiac troponin I peptide binding to human cardiac troponin C using NMR spectroscopy.
12093807 2002 Cardiac troponin T isoforms affect the Ca2+ sensitivity and inhibition of force development. Insights into the role of troponin T isoforms in the heart.
12060657 2002 Structure of the regulatory N-domain of human cardiac troponin C in complex with human cardiac troponin I147-163 and bepridil.
12044157 2002 Effects of T142 phosphorylation and mutation R145G on the interaction of the inhibitory region of human cardiac troponin I with the C-domain of human cardiac troponin C.
11904166 2002 The interaction of the bisphosphorylated N-terminal arm of cardiac troponin I-A 31P-NMR study.
11735257 2001 Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy.
11385718 2001 First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
10850966 2000 Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein.
10806205 2000 Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
9560191 1998 Crystal structure of troponin C in complex with troponin I fragment at 2.3-A resolution.
9448267 1998 Identification and mutagenesis of a highly conserved domain in troponin T responsible for troponin I binding: potential role for coiled coil interaction.
9346285 1997 The ordered phosphorylation of cardiac troponin I by the cAMP-dependent protein kinase--structural consequences and functional implications.
9315850 1997 Calcium-induced structural transition in the regulatory domain of human cardiac troponin C.
9219516 1997 Structural and functional domains of the troponin complex revealed by limited digestion.
8995486 1996 Assignment of the human slow twitch skeletal muscle/cardiac troponin C gene (TNNC1) to human chromosome 3p21.3-->3p14.3 using somatic cell hybrids.
8987992 1996 Interaction of deletion mutants of troponins I and T: COOH-terminal truncation of troponin T abolishes troponin I binding and reduces Ca2+ sensitivity of the reconstituted regulatory system.
8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
7957210 1994 Overexpression of human cardiac troponin-I and troponin-C in Escherichia coli and their purification and characterisation. Two point mutations allow high-level expression of troponin-I.
7103951 1982 Proton-magnetic-resonance studies on the interaction of rabbit skeletal-muscle troponin I with troponin C and actin.
3951483 1986 The amino acid sequence of human cardiac troponin-C.
3166492 1988 Differential expression of slow and fast skeletal muscle troponin C. Slow skeletal muscle troponin C is expressed in human fibroblasts.
2250022 1990 Cloning, structural analysis, and expression of the human slow twitch skeletal muscle/cardiac troponin C gene.