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FLASH GENE
Symbol CMYA5 contributors: mct - updated : 16-02-2011
HGNC name cardiomyopathy associated 5
HGNC id 14305
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain (N-(1-103)) binds to a 413-kDa TRIM-like protein, myospryn (CMYA5) with a repetitive, acidic N-terminal part
  • a FN3 domain and the SPRY domain are needed for titin M10 binding
  • C terminus with BBC, FN3, and SPRY domains in a configuration reminiscent of the tripartite motif protein family, as well as the dysbindin-binding site and a region mediating self-association
  • and a domain structure related to the tripartite motif proteins
    HOMOLOGY
    Homologene
    FAMILY
  • SPla/RYanodine receptor (SPRY) family
  • tripartite motif superfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • sarcoplasmic reticulum
  • localized to the costamere
  • characterization of CMYA5 and XIRP2 revealed localization of their protein products to the muscle costamere
  • basic FUNCTION
  • Z-disc-related protein, costameric protein functioning as a muscle-specific protein kinase A (PKA) anchoring protein or AKAP1
  • functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis
  • having ability to anchor AKAP1 at the costamere (may have profound regulatory implications given that dystrophin has been shown to be phosphorylated by AKAP1)
  • muscle-specific protein which function in vesicular trafficking and protein kinase A signaling and implicated in the pathogenesis of Duchenne muscular dystrophy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to dysbindin
  • direct molecular interactions of myospryn with the M-band part of the sarcomeric protein titin and with the skeletal muscle-specific protease calpain 3
  • XIRP2 and CMYA5 are MEF2A-dependent genes that encode costamere-localized proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    dysregulation of expression in Duchenne muscular dystrophy
    Susceptibility to left ventricular wall thickness in patients with hypertension
    Variant & Polymorphism other polymorphism of myospryn is associated with left ventricular hypertrophy in patients with hypertension
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS