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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| exostosin glycosyltransferase 1 | MIM:608177 | Ensembl:ENSG00000182197 | HGNC:HGNC:3512 | PA27924 | 8q24.11 |
GO terms in EXT1
| 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 |
| MF | IPI | GO:0046982 | protein heterodimerization activity |
| MF | ISS | GO:0050508 | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
| MF | NAS | GO:0050508 | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
| MF | ISS | GO:0050509 | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
| MF | NAS | GO:0050509 | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
| BP | TAS | GO:0001501 | skeletal system development |
| BP | IMP | GO:0001503 | ossification |
| BP | IDA | GO:0006024 | glycosaminoglycan biosynthetic process |
| BP | IEA | GO:0006486 | protein glycosylation |
| BP | TAS | GO:0007165 | signal transduction |
| BP | IEA | GO:0007369 | gastrulation |
| BP | IEA | GO:0007411 | axon guidance |
| BP | IEA | GO:0007492 | endoderm development |
| BP | IEA | GO:0007498 | mesoderm development |
| BP | IDA | GO:0015012 | heparan sulfate proteoglycan biosynthetic process |
| BP | ISS | GO:0015012 | heparan sulfate proteoglycan biosynthetic process |
| BP | IMP | GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process |
| BP | IEA | GO:0021772 | olfactory bulb development |
| BP | IDA | GO:0033692 | cellular polysaccharide biosynthetic process |
| BP | IEA | GO:0072498 | embryonic skeletal joint development |
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | NAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | ISS | GO:0030176 | integral 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
| 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 |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-2022928 | HS-GAG biosynthesis |
| reactome | R-HSA-3560782 | Diseases associated with glycosaminoglycan metabolism |
| reactome | R-HSA-3656237 | Defective EXT2 causes exostoses 2 |
| reactome | R-HSA-3656253 | Defective EXT1 causes exostoses 1, TRPS2 and CHDS |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD246 | NPC26 | 3 |
| iGMDRD64 | Parbendazole | 6 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD329 | Merck60 | 1 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD441 | TW 37 | 1 |
| iGMDRD137 | Indisulam | 1 |
| iGMDRD158 | NSC141540 | 3 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD123 | Isoevodiamine | 6 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD154 | NSC23766 | 6 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD560 | MK-2206 | 3 |
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD307 | Manumycin A | 6 |
| iGMDRD1008 | SR-II-138A | 6 |
| iGMDRD889 | Compound 7d-cis | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EXT1
CLASSFICATION
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