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FLASH GENE
Symbol TCAP contributors: mct/pgu - updated : 28-03-2012
HGNC name titin-cap (telethonin)
HGNC id 11610
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Reproductivemale systemprostate  moderately
Respiratorylung    
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac highly
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminus forming a unique structure linking two titin N-termini at the Z-disc
  • C-terminus that may have a regulatory function
  • HOMOLOGY
    interspecies homolog to murine Tcap (90.4 pc)
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • localized to the Z-disc of skeletal and cardiac muscles
  • co-localized with SCN5A
  • co-localized in the nucleus with MDM2
  • basic FUNCTION
  • required for the structural integrity of sarcomere
  • muscle assembly regulating factor, mediating the antiparallel assembly of titin (ttn) molecules at the sarcomeric z-disk
  • in skeletal muscle, anchoring TTN in the Z-disk
  • acting as a kinase
  • may play a role in intestinal pseudo-obstruction
  • one of the titin interacting Z-disc proteins involved in the regulation and development of normal sarcomeric structure
  • is a stretch-sensitive Z-disc protein that binds to proteins in the t-tubule membrane
  • is a critical, load-sensitive regulator of t-tubule structure and function
  • plays an important role in the response to cardiac overload
  • might be a load-dependent molecular regulator of the t-tubule membrane in the skeletal muscle
  • involved in the regulation of t-tubule structure, especially after mechanical overload
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of sarcomere
  • titin/TCAP/MLP complex serving as a mechanical stretch sensor
  • complex between the muscle proteins titin and telethonin forms a highly directed molecular bond
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to N terminal Ig repeats Z1 and Z2 of titin
  • binding to CSRP3 (Z disc MLP/TCAP complex, key component of the cardiomyocytes stretch sensor machinery)
  • interacting with MYOZ1 and MYOZ3
  • interacting with SCN5A
  • binding to BMP10
  • important role for MYOD1 in activating TCAP expression through the promoter proximal E box
  • cell & other
    REGULATION
    Other downregulated at the protein level through the proteasomal pathway, by MDM2
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2G , CMD1N
    related resource Limb-Girdle Muscular Dystrophy pages
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    loss of telethonin mRNA and nuclear accumulation of this protein is associated with heart failure, an effect that may contribute to enhanced rates of apoptosis found in these hearts
    Susceptibility
  • to hypertrophic cardiomyopathy (HCM)
  • to dilated cardiomyopathy (DCM)
  • Variant & Polymorphism other
  • T137I and R153H, were found in patients with HCM (mutation augment the ability of TCAP to interact with titin and MYOZ2)
  • E132Q, in a patient with DCM (mutation impair the interaction of TCAP with MLP, titin, and MYOZ2)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS