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 |
---|---|---|---|---|---|
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 |
Gene expression in normal tissue: EXT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
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 |
Gene-Drug: Aster Plot
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 | |
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No matching records found |