Aliases for EOGT Gene
External Ids for EOGT Gene
Previous HGNC Symbols for EOGT Gene
Previous GeneCards Identifiers for EOGT Gene
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]
GeneCards Summary for EOGT Gene
EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase) is a Protein Coding gene. Diseases associated with EOGT include Adams-Oliver Syndrome 4 and Adams-Oliver Syndrome. Among its related pathways are Other types of O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and protein N-acetylglucosaminyltransferase activity. An important paralog of this gene is POMGNT2.
UniProtKB/Swiss-Prot for EOGT Gene
Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains.