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FLASH GENE
Symbol HS2ST1 contributors: mct/ - updated : 17-11-2020
HGNC name heparan sulfate 2-O-sulfotransferase 1
HGNC id 5193
Corresponding disease
FDCARA facial dysmorphism, corpus callosum agenesis, renal agenesis
Location 1p22.3      Physical location : 87.380.334 - 87.575.680
Synonym symbol(s) KIAA0448, FLJ11317, MGC131986, dJ604K5.2
EC.number 2.8.2.-
DNA
TYPE functioning gene
STRUCTURE 195.35 kb     7 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
7 - 6770 - 356 - 2000 10677367
5 - 1623 - 229 - 2000 10677367
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
Nervousbrain   highly
 spinal cord   predominantly
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Hs2st1
homolog to Drosophila Hs2st
homolog to C.elegans hst-2
Homologene
FAMILY heparan sulfate biosynthetic enzyme family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,Golgi
basic FUNCTION
  • transfering sulfate to the 2 position of the iduronic acid residue of heparan sulfate
  • HS2ST1 and HS6ST1 are each deployed to generate distinct patterns of heparan sulfation on retinal ganglion cell and at the optic chiasm
  • involved in glycosaminoglycan chain synthesis or modifications
  • required for triglyceride-rich lipoprotein clearance
  • is important to regulate the migration of facial branchiomotor (FBM) neurons in the hindbrain
  • HS2ST1 and HS3ST2 are novel regulators of breast cancer stem-cell properties
  • enzymes required for heparan sulfate synthesis and that catalyzes the transfer of the sulfate groups to the sugar moiety of heparan sulfate
  • important role for the 2-O-sulfotransferase 1 in the developing mammalian telencephalon by tightly controlling MAP kinase signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FDCARA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS