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FLASH GENE
Symbol FUCA1 contributors: mct/npt - updated : 18-06-2010
HGNC name fucosidase, alpha-L- 1, tissue
HGNC id 4006
Corresponding disease
FUCA1D fucosidosis
Location 1p36.11      Physical location : 24.171.573 - 24.194.859
Synonym name Nbla10230/alpha-L-fucosidase
Synonym symbol(s) FUCA
EC.number 3.2.1.51
DNA
TYPE functioning gene
STRUCTURE 23.25 kb     8 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2133 - 466 - Venditti (2007)
- - - - - sperm Venditti (2007)
  • also called FUCA1SP
  • membrane-associated isozyme of human sperm cells
    		•
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to rattus Fuca (80.54 pc)
    homolog to murine Fuca1 (83.96 pc)
    Homologene
    FAMILY
  • glycosyl hydrolase 29 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins
  • has a role in the intimate species signature interactions between sperm and oocyte (Vendetti 2007)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) FUCA1D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS