MGP Database

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MGP001000

Ontology/Pathway Information

Entrez Gene ID2131
Gene Nameexostosin glycosyltransferase 1
Gene Symbol EXT1
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0005783 IDA:BHF-UCLCendoplasmic reticulum
GO:0005789 NAS:BHF-UCLCendoplasmic reticulum membrane
GO:0005794 IDA:BHF-UCLCGolgi apparatus
GO:0000139 TAS:BHF-UCLCGolgi membrane
GO:0030176 ISS:UniProtKBCintegral component of endoplasmic reticulum membrane
GO:0016021 TAS:ProtIncCintegral component of membrane
GO:0008375 IDA:BHF-UCLFacetylglucosaminyltransferase activity
GO:0050508 ISS:UniProtKBFglucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0015020 IDA:BHF-UCLFglucuronosyltransferase activity
GO:0042328 NAS:BHF-UCLFheparan sulfate N-acetylglucosaminyltransferase activity
GO:0046872 IEA:UniProtKB-KWFmetal ion binding
GO:0050509 ISS:UniProtKBFN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
GO:0046982 IPI:BHF-UCLFprotein heterodimerization activity
GO:0042803 IDA:BHF-UCLFprotein homodimerization activity
GO:0016757 IDA:BHF-UCLFtransferase activity, transferring glycosyl groups
GO:0007411 IEA:EnsemblPaxon guidance
GO:0005975 TAS:ReactomePcarbohydrate metabolic process
GO:0033692 IDA:BHF-UCLPcellular polysaccharide biosynthetic process
GO:0072498 IEA:EnsemblPembryonic skeletal joint development
GO:0007492 IEA:EnsemblPendoderm development
GO:0007369 IEA:EnsemblPgastrulation
GO:0006024 IDA:BHF-UCLPglycosaminoglycan biosynthetic process
GO:0030203 TAS:ReactomePglycosaminoglycan metabolic process
GO:0015012 ISS:UniProtKBPheparan sulfate proteoglycan biosynthetic process
GO:0015014 IMP:BHF-UCLPheparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0007498 IEA:EnsemblPmesoderm development
GO:0021772 IEA:EnsemblPolfactory bulb development
GO:0001503 IMP:BHF-UCLPossification
GO:0006486 IEA:UniProtKB-UniPathwayPprotein glycosylation
GO:0007165 TAS:ProtIncPsignal transduction
GO:0001501 TAS:ProtIncPskeletal system development
GO:0044281 TAS:ReactomePsmall molecule metabolic process
REACTOME Pathway Links
REACTOME Pathway IDDescription
REACT_268678Defective B3GAT3 causes JDSSDHD
REACT_268431Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
REACT_268749Defective B4GALT7 causes EDS, progeroid type
REACT_267917Defective CHST14 causes EDS, musculocontractural type
REACT_267648Defective CHST3 causes SEDCJD
REACT_268786Defective CHST6 causes MCDC1
REACT_268113Defective CHSY1 causes TPBS
REACT_267942Defective EXT1 causes exostoses 1, TRPS2 and CHDS
REACT_267741Defective EXT2 causes exostoses 2
REACT_268843Defective PAPSS2 causes SEMD-PA
REACT_268059Defective SLC26A2 causes chondrodysplasias
REACT_116125Disease
REACT_268624Diseases associated with glycosaminoglycan metabolism
REACT_268324Diseases of glycosylation
REACT_264090Glycogen storage diseases
REACT_121315Glycosaminoglycan metabolism
REACT_121314Heparan sulfate/heparin (HS-GAG) metabolism
REACT_121248HS-GAG biosynthesis
REACT_111217Metabolism
REACT_474Metabolism of carbohydrates
REACT_147857MPS I - Hurler syndrome
REACT_147734MPS II - Hunter syndrome
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_147825MPS IV - Morquio syndrome A
REACT_147798MPS IV - Morquio syndrome B
REACT_147739MPS IX - Natowicz syndrome
REACT_147759MPS VII - Sly syndrome
REACT_147719MPS VI - Maroteaux-Lamy syndrome
REACT_147853Mucopolysaccharidoses
REACT_264430Myoclonic epilepsy of Lafora
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