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FLASH GENE
Symbol FKRP contributors: mct - updated : 26-02-2011
HGNC name fukutin related protein
HGNC id 17997
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