EOGT
Summary: This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
EGF domain specific O-linked N-acetylglucosamine transferase | MIM:614789 | Ensembl:ENSG00000163378 | HGNC:HGNC:28526 | PA143485338 | 3p14.1 |
GO terms in EOGT
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | ISS | GO:0016262 | protein N-acetylglucosaminyltransferase activity |
BP | ISS | GO:0006493 | protein O-linked glycosylation |
CC | IEA | GO:0005788 | endoplasmic reticulum lumen |
Gene expression in normal tissue: EOGT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EOGT
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa00514 | Other types of O-glycan biosynthesis - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD399 | Selumetinib | 1 |
iGMDRD353 | PD0325901 | 2 |
iGMDRD309 | 17AAG | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EOGT