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FLASH GENE
Symbol FAM20B contributors: mct - updated : 25-01-2019
HGNC name glycosaminoglycan xylosylkinase
HGNC id 23017
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
Physical map
COP1 1q24.2 constitutive photomorphogenic protein LOC391140 1 similar to 60S ribosomal protein L13 (A52) PLAC3 1q23-q25 placenta-specific 3 ASTN 1q25.2 astrotactin LOC57795 1q24.1-q25.3 hypothetical protein from clone 24828 RGPR 1q24.2-q25.2 hypothetical protein from clone 24828 LOC391141 1 similar to Quinone oxidoreductase (NADPH:quinone reductase) (Zeta-crystallin) RASAL2 1q25 RAS protein activator like 2 DKFZP564J047 1q24.3 hypothetical protein DKFZp564J047 FLJ10244 1q24.3 Ral-A exchange factor RalGPS2 ANGPTL1 1q24.2 angiopoietin-like 1 FAM20B 1q25 family with sequence similarity 20, member B TOR3A 1q24.2-q24.3 torsin family 3, member A ABL2 1q24-q25 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) SOAT1 1q25 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 FLJ32940 1q24.3 hypothetical protein FLJ32940 NPHS2 1q25-q31 nephrosis 2, idiopathic, steroid-resistant (podocin) LOC126860 1q24.3 similar to centaurin, gamma 2 TDRD5 1q24.2 tudor domain containing 5 MGC16664 1q25.1 hypothetical protein MGC16664 LOC163590 1q25.1 AF464140 IFRG15 1q25.1 IFRG15 protein LAP1B 1q24.2 lamina-associated polypeptide 1B CAP350 1p36.13-q41 lamina-associated polypeptide 1B QSCN6 1q24 quiescin Q6 FLJ23867 1q25.1 hypothetical protein FLJ23867 LHX4 1q24.1-q24.3 LIM homeobox 4 LOC388717 1 LOC388717 ACBD6 1q25.1 acyl-Coenzyme A binding domain containing 6 XPR1 1q25 xenotropic and polytropic retrovirus receptor KIAA1614 1q25.1 KIAA1614 protein LOC391142 1 hypothetical gene supported by AJ249778; NM_001531 STX6 1p36 syntaxin 6 MR1 1q25.3 major histocompatibility complex, class I-related IER5 1q25.1 immediate early response 5 LOC284646 1q25.1 hypothetical gene supported by BC039493 CACNA1E 1q25-q31 calcium channel, voltage-dependent, alpha 1E subunit
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