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FLASH GENE
Symbol TCAP contributors: mct/pgu - updated : 28-03-2012
HGNC name titin-cap (telethonin)
HGNC id 11610
Corresponding disease
CMD1N cardiomyopathy, dilated 1N
LGMD2G limb girdle muscular dystrophy 2G
Location 17q12      Physical location : 37.821.598 - 37.822.806
Synonym name
  • 19 kDa sarcomeric protein
  • titin-cap protein
  • limb girdle muscular dystrophy 2G (autosomal recessive)
    • Synonym symbol(s) TELE, TELETHONIN, TELT, T-cap, TELE, CMD1N, LGMD2G
    DNA
    TYPE functioning gene
    STRUCTURE 1.21 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • highly conserved 421 bp promoter proximal promoter fragment that contains two E boxes and multiple putative Mef2 binding sequences (
    • MAPPING cloned Y linked N status confirmed
    Map cen - D17S2005 - D17S1542 - D17S1867 - D17S1660 - D17S946 - D17S838 - [D17S1818 - D17S1814 ] - THRA - RARA RARA - D17S2038 - qter
    Text [TCAP ]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 963 19 167 - 2002 12379311
    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