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FLASH GENE
Symbol GALT contributors: mct/npt - updated : 25-08-2009
HGNC name galactose-1-phosphate uridylyltransferase
HGNC id 4135
Corresponding disease
GALTD galactosemia, type I
Location 9p13.3      Physical location : 34.646.634 - 34.650.571
Synonym name
  • Gal-1-P uridylyltransferase
  • UDP-glucose--hexose-1-phosphate uridylyltransferase
    • EC.number 2.7.7.12
    DNA
    TYPE functioning gene
    STRUCTURE 3.94 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   enhancer
    text structure carbohydrate response element (CHORE) and one nuclear protein of the B/HLH/L2 family is necessary for the carbohydrate response
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    text cotranscripted and intergenically spliced with IL1R1
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1347 44 379 - Magrangeas, Carney (2009)
    - - 2603 - 126 - Magrangeas
    - - 2200 - 162 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • galactose-1-phosphate uridylyltransferase type 1 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in the second step of galactose metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GALTD
    related resource Galactosaemia
    Galactose-1-Phosphate Uridyl Transferase Mutation Analysis Database Research
    Susceptibility
    Variant & Polymorphism other mutation K285N associated with idiopathic presenile cataract
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS