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FLASH GENE
Symbol FKRP contributors: mct - updated : 26-02-2011
HGNC name fukutin related protein
HGNC id 17997
Corresponding disease
LGMD2I limb girdle muscular dystrophy 2I
MDC1C muscular dystrophy, congenital, C
WLKWS5 Walker-Warburg syndrome 5
Location 19q13.32      Physical location : 47.249.302 - 47.261.832
Synonym name
  • zinedin
  • striatin 4
    • Synonym symbol(s) FLJ12576, MGC2991, MDDGA5, MDDGB5, MDDGC5, MGC2991
    EC.number 2.-.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 12.53 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3474 - 495 - 2005 15574464
    4 - 3422 - 495 brain, liver, pancreas, prostate, kidney, lung 2005 15574464
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine  highly
     mouth   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain    
     nervespinal nervesciatic  
    Reproductivemale systemtestis  highly
    Visualeyeuvea   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N terminal arginine residue
  • a transmembrane domain
    • HOMOLOGY
    Homologene
    FAMILY
  • WD-repeat striatin family
  • licD transferase family
    • CATEGORY motor/contractile , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • in rough endoplasmic reticulum
  • type 2 transmembrane protein
  • targeted to the medial-Golgi apparatus through its N-terminus and transmembrane domains
    • basic FUNCTION
  • glycosyltransferase involved in alpha-dystroglycan glycosylation
  • may be functioning as scaffolding or signaling protein
  • may be having a glycosyltransferase or phosphoryl-ligand transferase activity
  • may be involved in O-mannosylglycan synthesis of alpha-dystroglycan, likely in the initial step in this synthesis
  • Golgi-resident protein required for the post-translational modification of dystroglycan
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding calmodulin in a calcium dependent manner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2I , MDC1C , WLKWS5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    present at the sarcolemma in mouse