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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Nameexostosin glycosyltransferase 1
OMIM IDMIM:608177
Ensembl IDEnsembl:ENSG00000182197
HGNC IDHGNC:HGNC:3512
PHARMGKB IDPA27924
Map Location8q24.11

GO terms in EXT1


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IDA GO:0008375 acetylglucosaminyltransferase activity
MF IDA GO:0015020 glucuronosyltransferase activity
MF IDA GO:0016757 transferase activity, transferring glycosyl groups
MF NAS GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity
MF IDA GO:0042803 protein homodimerization activity
MF IEA GO:0046872 metal ion binding
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Gene expression in normal tissue: EXT1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined24Apoptosis regulation2Purine metabolism1PI3K/MTOR signaling1DNA replication1ERK MAPK signaling1

Pathways in EXT1


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Database
Pathway ID
Pathway Des.
wikipathways WP2853 Endoderm Differentiation
wikipathways WP2857 Mesodermal Commitment Pathway
wikipathways WP3609 Olfactory bulb development and olfactory learning
kegg hsa00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin - Homo sapiens (human)
humancyc PWY-6558 heparan sulfate biosynthesis (late stages)
humancyc PWY-6564 heparan sulfate biosynthesis
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD246 NPC26 3
iGMDRD64 Parbendazole 6
iGMDRD872 BRD7137 3
iGMDRD399 Selumetinib 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in EXT1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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