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FLASH GENE
Symbol POFUT1 contributors: mct - updated : 15-02-2012
HGNC name protein O-fucosyltransferase 1
HGNC id 14988
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 5249 - 388 - 2005 15692013
5 - 1524 - 194 - 2005 15692013
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES basic
STRUCTURE
motifs/domains
  • N terminal transmembrane sequence typical of a type 2 membrane orientation
  • a KDEL-like sequence at its C terminus, retaining OFUT1 in the ER
  • HOMOLOGY
    interspecies homolog to murine O-fuct-1
    ortholog to Drosophila Pofut1
    Homologene
    FAMILY glycosyltransferase O-Fuc family
    CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • soluble protein located in the lumen of endoplasmic reticulum (ER)
  • basic FUNCTION
  • catalyzing the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in EGF domains
  • playing an essential role in Notch signaling
  • specifically required for cell surface localization of Notch (required for normal trafficking of Notch out of the ER)
  • facilitating Notch folding independently of its fucosyltransferase activity (chaperone activity)
  • mammalian Notch receptors require POFUT1 for the generation of optimally functional NOTCH receptors
  • acts as a chaperone and is required for NOTCH trafficking
  • involved in the presomitic mesoderm (PSM) Notch signalling that is particularly sensitive to POFUT1 levels
  • key role for the O-fucose glycans generated by PFUT1 in NOTCH regulation of hematopoietic homeostasis through modulation of NOTCH-ligand interactions
  • plays a significant and conserved role in melanin synthesis and transport
  • CELLULAR PROCESS nucleotide, transcription, regulation
    protein, translation regulation
    PHYSIOLOGICAL PROCESS development
    text embryonic development
    PATHWAY
    metabolism carbohydrate
    signaling
    component of the canonical Notch signaling pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
    manganese
    protein
  • Notch (EGF domain)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mouse embryos lacking Pofut1 function die with a phenotype indicative of global inactivation of Notch signalling