EXT1


Summary: This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
exostosin glycosyltransferase 1MIM:608177Ensembl:ENSG00000182197HGNC:HGNC:3512PA279248q24.11

GO terms in EXT1


Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0008375acetylglucosaminyltransferase activity
MFIDAGO:0015020glucuronosyltransferase activity
MFIDAGO:0016757transferase activity, transferring glycosyl groups
MFNASGO:0042328heparan sulfate N-acetylglucosaminyltransferase activity
MFIDAGO:0042803protein homodimerization activity
MFIEAGO:0046872metal ion binding
MFIPIGO:0046982protein heterodimerization activity
MFISSGO:0050508glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
MFNASGO:0050508glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
MFISSGO:0050509N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
MFNASGO:0050509N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
BPTASGO:0001501skeletal system development
BPIMPGO:0001503ossification
BPIDAGO:0006024glycosaminoglycan biosynthetic process
BPIEAGO:0006486protein glycosylation
BPTASGO:0007165signal transduction
BPIEAGO:0007369gastrulation
BPIEAGO:0007411axon guidance
BPIEAGO:0007492endoderm development
BPIEAGO:0007498mesoderm development
BPIDAGO:0015012heparan sulfate proteoglycan biosynthetic process
BPISSGO:0015012heparan sulfate proteoglycan biosynthetic process
BPIMPGO:0015014heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
BPIEAGO:0021772olfactory bulb development
BPIDAGO:0033692cellular polysaccharide biosynthetic process
BPIEAGO:0072498embryonic skeletal joint development
CCTASGO:0000139Golgi membrane
CCIDAGO:0005783endoplasmic reticulum
CCNASGO:0005789endoplasmic reticulum membrane
CCIDAGO:0005794Golgi apparatus
CCTASGO:0016021integral component of membrane
CCISSGO:0030176integral component of endoplasmic reticulum membrane

Gene expression in normal tissue: EXT1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in EXT1


DatabasePathway IDPathway Des.
wikipathwaysWP2853Endoderm Differentiation
wikipathwaysWP2857Mesodermal Commitment Pathway
wikipathwaysWP3609Olfactory bulb development and olfactory learning
kegghsa00534Glycosaminoglycan biosynthesis - heparan sulfate / heparin - Homo sapiens (human)
humancycPWY-6558heparan sulfate biosynthesis (late stages)
humancycPWY-6564heparan sulfate biosynthesis
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1630316Glycosaminoglycan metabolism
reactomeR-HSA-1638091Heparan sulfate/heparin (HS-GAG) metabolism
reactomeR-HSA-1643685Disease
reactomeR-HSA-2022928HS-GAG biosynthesis
reactomeR-HSA-3560782Diseases associated with glycosaminoglycan metabolism
reactomeR-HSA-3656237Defective EXT2 causes exostoses 2
reactomeR-HSA-3656253Defective EXT1 causes exostoses 1, TRPS2 and CHDS
reactomeR-HSA-3781865Diseases of glycosylation
reactomeR-HSA-71387Metabolism of carbohydrates

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD246NPC263
iGMDRD64Parbendazole6
iGMDRD872BRD71373
iGMDRD399Selumetinib3
iGMDRD871BRD63683
iGMDRD100Zebularine3
iGMDRD188Piperlongumine3
iGMDRD562Navitoclax3
iGMDRD329Merck601
iGMDRD705Nakiterpiosin3
iGMDRD267Oligomycin A3
iGMDRD77Itraconazole3
iGMDRD870BRD636103
iGMDRD441TW 371
iGMDRD137Indisulam1
iGMDRD158NSC1415403
iGMDRD138PX 123
iGMDRD260FQI-23
iGMDRD123Isoevodiamine6
iGMDRD280CYTOCHALASIN B3
iGMDRD901ELCPK3
iGMDRD297Austocystin D3
iGMDRD154NSC237666
iGMDRD446LY 21832403
iGMDRD560MK-22063
iGMDRD79Gemcitabine3
iGMDRD151CHM-13
iGMDRD307Manumycin A6
iGMDRD1008SR-II-138A6
iGMDRD889Compound 7d-cis3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in EXT1

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