Entrez 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].
UniProt Summary: 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. {ECO:0000269|PubMed:23671640}.
Pfam DomainsGO Terms
Pfam Domains
DUF563
GO Terms
protein N-acetylglucosaminyltransferase activity
protein O-linked glycosylation
macromolecule glycosylation
protein glycosylation
glycosylation
endoplasmic reticulum lumen
glycoprotein biosynthetic process
glycoprotein metabolic process
carbohydrate derivative biosynthetic process
carbohydrate derivative metabolic process
organonitrogen compound biosynthetic process
cellular macromolecule biosynthetic process
macromolecule biosynthetic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)