Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FKTN contributors: mct - updated : 20-01-2015
HGNC name fukutin
HGNC id 3622
DNA
TYPE functioning gene
STRUCTURE 82.99 kb     10 Exon(s)
regulatory sequence Promoter (TATA box)
text structure
  • a retrotransposal inserted sequence in the 3'UTR, found in most chromosomes of patients
  • a CRE-like sequence
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text
  • numerous alternatively spliced mRNA transcripts (PMID: 11165248)
  • Variants 1 and 2 encode the same protein
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 7456 53 461 - 2001 11165248
    10 - 7364 53 461 - 2001 11165248
    12 - 2504 - 430 - 2001 11165248
    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