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FLASH GENE
Symbol B3GALTL contributors: mct - updated : 04-09-2006
HGNC name beta 1,3-galactosyltransferase-like
HGNC id 20207
Corresponding disease
PASD Peters anomaly with short-limb dwarfism
Location 13q12.3      Physical location : 31.774.111 - 31.906.409
Synonym name beta 3-glycosyltransferase-like
Synonym symbol(s) B3GTL, RP11-367C11.1, Gal-T
DNA
TYPE functioning gene
STRUCTURE 132.00 kb     15 Exon(s)
regulatory sequence
text structure lacking canonical TATA and CAAT boxes and containing three functional polyadenylation sites.
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumear   highly
Nervousbrain    
Reproductivemale systemtestis  highly
Skin/Tegumentskin    
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a short cytoplasmic N-terminal "tail" (residues 1-4)
  • a single transmembrane domain with type II topology (residues 5-28)
  • a "stem" region (residues 29-260)
  • a catalytic domain (residues 261-498)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • transferring glycosyl groups
  • involved in the synthesis of the disaccharide Glc-â1,3-Fuc-O-that occurs on thrombospondin type 1 repeats of many biologically important proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PASD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in thyroid oncocytic tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS