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FLASH GENE
Symbol TNNC1 contributors: npt/mct - updated : 27-12-2016
HGNC name troponin C type 1 (slow)
HGNC id 11943
Corresponding disease
CMH13 cardiomyopathy, familial, hypertrophic, 13
RCM5 restrictive cardiomyopathy 5
Location 3p21.1      Physical location : 52.485.107 - 52.488.057
Synonym name
  • cardiac troponin C
  • troponin C, slow
  • troponin C, slow skeletal and cardiac muscles
  • Synonym symbol(s) TNC, TNNC, cTnc
    DNA
    TYPE functioning gene
    STRUCTURE 2.95 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    ZSIG11 3p21.31 putative secreted protein ZSIG11 GRM2 3p21.3-p21.2 glutamate receptor, metabotropic 2 LOC389121 3 LOC389121 LOC389122 3 hypothetical gene supported by BC021188 LOC389123 3 similar to hypothetical protein MGC39725 LOC389124 3 similar to hypothetical protein MGC39725 MGC39725 3p21.31 hypothetical protein MGC39725 RNU3IP2 3p21.31 RNA, U3 small nucleolar interacting protein 2 ADPRTL3 3p22.2-p21.1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3 GPR62 3p21.1 G protein-coupled receptor 62 PCBP4 3p21 poly(rC) binding protein 4 MGC15429 3p21.31 hypothetical protein MGC15429 DKFZP564O243 3p21.1 DKFZP564O243 protein ACY1 3p21.1 aminoacylase 1 RPL29 3q29 ribosomal protein L29 DUSP7 3p21.1 dual specificity phosphatase 7 DKFZP434C245 3p21.31 DKFZP434C245 protein LOC391538 3 similar to fructose-1,6-bisphosphate aldolase A ALAS1 3p21.1 aminolevulinate, delta-, synthase 1 TLR9 3p21.3 toll-like receptor 9 PTK9L 3p21.1 PTK9L protein tyrosine kinase 9-like (A6-related protein) FLJ32332 3p21.31 likely ortholog of mouse protein phosphatase 2C eta PRO2730 3p21.31 hypothetical protein PRO2730 GLYCTK 3p21.31 CG9886-like PPP2R5CP 3p21.3 protein phosphatase 2, regulatory subunit B (B56), gamma isoform pseudogene BAP1 3p21.31-p21.2 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) PHF7 3p21.31 PHD finger protein 7 LOC56920 3p21.31 semaphorin sem2 TNNC1 3p21.3-p14.3 troponin C, slow NISCH 3p21.1 nischarin STAB1 3p21.31 stabilin 1 FLJ12442 3p21.31 hypothetical protein FLJ12442 PB1 3p21 hypothetical protein FLJ12442 NS 3p21.31 nucleostemin AD-017 3p21.31 glycosyltransferase AD-017 SPC12 3p21.31 signal peptidase 12kDa NEK4 3p21.1 NIMA (never in mitosis gene a)-related kinase 4 ITIH1 3p21.2-p21.1 inter-alpha (globulin) inhibitor, H1 polypeptide ITIH3 3p21.2-p21.1 pre-alpha (globulin) inhibitor, H3 polypeptide ITIH4 3p21.2-p21.1 inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein) LOC389125 3 similar to hypothetical protein MGC52022 3p21.31 Similar to RIKEN cDNA 1810038N08 gene SFMBT1 3p21.31 Scm-like with four mbt domains 1 LOC285398 3p21.31 hypothetical protein LOC285398 RFT1 3p21.31 putative endoplasmic reticulum multispan transmembrane protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 705 - 161 - 1997 9365790
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Reproductivemale systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac highly Homo sapiens
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 12-residue alpha-helix at the N terminus, EF-hand loop (NH2-DEDGSGTVDFDE-COOH) with six residues (bold) that coordinate Ca2+ binding and six residues that do not appear to influence Ca2+ binding directly
  • the N helix, containing Ca++ binding site, that responds to Ca2+ to regulate muscle contraction, and N terminus plays an important role in the regulation of cardiac muscle contraction by moving the C-terminal region of TNNI3 from its actin-binding inhibitory location and enhancing the movement of tropomyosin away from its inhibitory position
  • two globular EF-hand domains connected by a flexible linker
  • a C-domain sites that are thought to be permanently occupied by Ca2+ and/or Mg2+, thus playing a structural role by anchoring TNNC1 into the thin filament (Swindle 2010), and Ca(2+)/Mg(2+) sites (III and IV) modulate crossbridge-mediated thin filament activation in cardiac myofibrils
  • secondary structure a central helix and conserved acidic AAs within the exposed middle segment of the central helix are important for the proper regulatory function of the cTn complex
    conjugated Other
    HOMOLOGY
    interspecies homolog to C.elegans T21H3.3
    Homologene
    FAMILY
  • troponin C family
  • CATEGORY motor/contractile , regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • preventing actin and myosin interaction in resting muscle tissue
  • involved in regulation of striated muscle contraction
  • its Ca(2+) binding properties modulate the rate of cardiac muscle contraction at submaximal levels of Ca(2+) activation
  • is required both for the function and structural integrity of the contractile machinery in cardiomyocytes
  • important regulatory molecule in cardiomyocytes
  • may act as a hub, sensing physiological and pathological stimuli to modulate the Ca(2+)-binding properties of the thin filament and influence the contractile performance of the heart
  • calcium-binding subunit of the troponin complex responsible for initiating striated muscle contraction in response to calcium influx
  • Ca2+ sensor and key regulator of contraction
  • role of TNNC1 mutations in the development of cardiomyopathy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text muscle development
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration, cardiac and slow twitch skeletal muscle
  • calcium-binding subunit of troponin
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • interacting with both thin and thick filament proteins which influence the ability of TNNC1 to sense and respond to Ca(2+)
  • interactions with the other contractile proteins play a crucial role in modulating the binding of calcium to TNNC1 in increasingly complex biochemical systems
  • TNNI3 has a unique 31-AAs N-terminal region that binds cardiac troponin C (TNNC1) to increase the calcium sensitivity of the sarcomere
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH13 , RCM5
    Susceptibility
  • to dilated cardiomyopathy (DCM)
  • to Hypertrophic Cardiomyopathy
  • Variant & Polymorphism other
  • Y5H, M103I, G159D and Q50R, and I148V variants associated with DCM
  • TNNC1-A8V mutant increases the Ca(2+)-binding affinity of the thin filament and elicits changes in Ca(2+) homeostasis and cellular remodeling, which leads to diastolic dysfunction, and to hypertrophic cardiomyopathy
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS