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FLASH GENE
Symbol CMYA5 contributors: mct - updated : 16-02-2011
HGNC name cardiomyopathy associated 5
HGNC id 14305
DNA
TYPE functioning gene
STRUCTURE 110.40 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
AP3B1 5q12-q13.2 adaptor-related protein complex 3, beta 1 subunit SCAMP1 5q13.3-q14.1 secretory carrier membrane protein 1 LHFPL2 5q13.3 lipoma HMGIC fusion partner-like 2 ARSB 5q13 arylsulfatase B DMGDH 5q12.2-q12.3 arylsulfatase B BHMT2 5q13 betaine-homocysteine methyltransferase 2 BHMT 5q13.1-q15 betaine-homocysteine methyltransferase JMY 5q14.1 junction-mediating and regulatory protein HOMER1 5q25 homer homolog 1 (Drosophila) LOC133748 5q14.1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) FLJ38499 5q14.1 hypothetical protein FLJ38499 CMYA5 5q14.1 cardiomyopathy associated 5 LOC391802 5 similar to 60S ribosomal protein L10 (QM protein homolog) LOC345778 5q14.1 similar to hypothetical protein THBS4 5q13 thrombospondin 4 C5orf12 5 chromosome 5 open reading frame 12 LOC391803 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC134478 5q14.1 similar to cytoplasmic beta-actin NYD-TSP1 5q14.1 testis-specific protein NYD-TSP1 LOC391804 5 similar to hypothetical protein LOC391805 5 hypothetical gene supported by NM_004269 LOC153817 5q14.1 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) ZFYVE16 5p15.2-q14.3 zinc finger, FYVE domain containing 16 LOC167555 5q14.1 similar to AASA9217 LOC340120 5q14.1 similar to RIKEN cDNA 6430502M16 gene LOC389306 5 LOC389306 DBIL1 5pter-p15.32 diazepam binding inhibitor-like 1 DHFR 5q13.2 dihydrofolate reductase MSH3 5q11-q12 mutS homolog 3 (E. coli) RASGRF2 5q13 Ras protein-specific guanine nucleotide-releasing factor 2 CKMT2 5q13.3 creatine kinase, mitochondrial 2 (sarcomeric) DKFZp761J139 5q14.1 hypothetical protein DKFZp761J139 CACH-1 5q14.1 cytosolic acetyl-CoA hydrolase SSBP2 5q14.1 single-stranded DNA binding protein 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 12911 449 4069 - 2010 20634290
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac specific Homo sapiens
Muscularstriatumskeletal specific Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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