EOGT sirna
EOGT siRNA (Human)
NCBI and Uniprot Product Information
NCBI Description
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 Description
AER61: 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. Belongs to the glycosyltransferase 61 family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.4.1.255; Transferase
Chromosomal Location of Human Ortholog: 3p14.1
Cellular Component: endoplasmic reticulum lumen
Molecular Function: protein N-acetylglucosaminyltransferase activity
Biological Process: protein amino acid O-linked glycosylation
Disease: Adams-oliver Syndrome 4