Gene: TNNC1
Alternate names for this Gene: CMD1Z|CMH13|TN-C|TNC|TNNC
Gene Summary: Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.1
Description of this Gene: troponin C1, slow skeletal and cardiac type
Type of Gene: protein-coding
Gene: NISCH
Alternate names for this Gene: I-1|IR1|IRAS|hIRAS
Gene Summary: This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.1
Description of this Gene: nischarin
Type of Gene: protein-coding
rs267607125 in
TNNC1;NISCH gene and
Cardiomyopathy, Familial Hypertrophic, 13
PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
PMID 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.
PMID 11385718 2001 First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
PMID 18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
PMID 19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
rs267607125 in
TNNC1;NISCH gene and
Hypertrophic Cardiomyopathy
PMID 23425245 2013 Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.
PMID 20459070 2010 Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
PMID 27604170 2016 Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
PMID 19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
PMID 18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
PMID 26976709 2016 Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.
PMID 28533433 2017 Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.
PMID 26304555 2015 In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.
PMID 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.
PMID 28473771 2017 Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.
PMID 22489623 2012 Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation.