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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
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
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