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FLASH GENE
Symbol FAM20B contributors: mct - updated : 25-01-2019
HGNC name glycosaminoglycan xylosylkinase
HGNC id 23017
Location 1q25.2      Physical location : 178.995.073 - 179.045.701
Synonym name
  • KIAA0475 gene product
  • family with sequence similarity 20, member B
  • Synonym symbol(s) KIAA0475, Gxk1
    EC.number 2.7.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 50.77 kb     8 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 5848 - 409 - 2009 19473117
    8 - 5950 - 409 - 2009 19473117
    8 - 5858 - 409 - 2009 19473117
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivesalivary gland    
    Lymphoid/Immunelymph node   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Connectivebone   
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine C530043G21Rik
    Homologene
    FAMILY FAM20 family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • potential functions in regulating differentiation and function of hematopoietic and other tissues
  • is a kinase that phosphorylates the xylose residue in the linkage region
  • regulates likely the number of glycosaminoglycan chains by phosphorylating the xylose residue in the glycosaminoglycan-protein linkage region of proteoglycans
  • XYLT1, and FAM20B function in cartilage matrix production and ultimately regulate the timing of skeletal development
  • FAM20B phosphorylates the initiating xylose residue in the proteoglycan tetrasaccharide linkage region, and this event functions as a molecular switch to regulate subsequent glycosaminoglycan assembly
  • FAM20B-catalyzed proteoglycans regulate postnatal endochondral ossification partially through the mediation of WNT signaling.
  • FAM20B is essential for the formation of glycosaminoglycan (GAG) chains
  • phosphorylates the initial xylose on the side chain of a serine residue in the protein
  • CELLULAR PROCESS protein
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • proteoglycans formed through the catalysis of FAM20B are essential for the morphogenesis and mineralization of the craniofacial complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS