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FLASH GENE
Symbol XIRP1 contributors: mct - updated : 31-03-2008
HGNC name xin actin-binding repeat containing 1
HGNC id 14301
Location 3p22.2      Physical location : 39.224.706 - 39.234.077
Synonym name
  • cardiomyopathy associated 1
  • heart specific gene, maybe C3orf3
  • Synonym symbol(s) CMYA1, Xin
    DNA
    TYPE functioning gene
    STRUCTURE 9.00 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 6451 - 1843 - van der Ven (2006)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouth    
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal specific Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • actin-binding proteins family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • in adult muscle, XIRP1 and XIRP2 are concentrated at attachment sites of myofibrils to the membrane
  • basic FUNCTION
  • involved in developmental and adaptive remodeling of the actin cytoskeleton during cardiac morphogenesis and sarcomere assembly
  • during development XIRP1, XIRP2 are localized to immature myofibrils together with their binding partner, filamin C, indicating an involvement of both proteins in myofibril assembly
  • role of XIRP1 and XIRP2(together with their interaction partners) in myofibril assembly and after muscle damage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • temporally restricted interaction of Xin-repeat proteins (XIRP1, XIRP2) with nebulin/nebulette during early stages of myofibril development that is lost upon further maturation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS