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FLASH GENE
Symbol FKTN contributors: mct - updated : 20-01-2015
HGNC name fukutin
HGNC id 3622
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly
Endocrinepancreas   predominantly
Nervousbrain   predominantly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Muscularstriatumskeletal  
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousglia
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text normal developing brain
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • an amino terminal signal sequence suggesting that is secreted protein
  • HOMOLOGY
    Homologene
    FAMILY
  • licD transferase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text
  • extracellular matrix
  • in the cis-Golgi compartment
  • co-localizes with POMGNT1 in the Golgi apparatus
  • basic FUNCTION
  • regulation of neuronal migration in the fetal cerebrum and cerebellum
  • involved in migration and assembly of neurons during cortical histogenesis,not of basement membrane formation
  • required for the maintenance of muscle integrity, cortical histogenesis and normal ocular development
  • may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan
  • might play a significant role in post-translational modification of synaptic proteins in neuronal cells
  • is involved in basement membrane formation via the glycosylation of alpha-dystroglycan (alpha-DG), and hypoglycosylation of alpha-DG provokes the muscular, CNS and eye lesions of FCMD
  • is a very low abundance protein, required for glycosylation of alpha-dystroglycan at the Golgi, though not substantially-glycosylated itself
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • forms a complex with POMGNT1 and may modulate its enzymatic activity
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • functional linkage with alpha-dystroglycan
  • interacting with POMGNT1
  • cell & other
    REGULATION
    Other regulated by transcription factor CREB in response to the signals generated by synaptic activity
    ASSOCIATED DISORDERS
    corresponding disease(s) FCMD , CMD1X , LGMD2M
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    FKTN folding amelioration directed at correcting the cellular localization may provide a therapeutic benefit to glycosylation-deficient muscular dystrophies
    ANIMAL & CELL MODELS