EOGT

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]

Description

EGF domain specific O-linked N-acetylglucosamine transferase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear membrane, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (68975217 - 69013684)

Ensembl ID

ENSG00000163378  (ver. 103.38)

Orthologs

Mouse Eogt: ENSMUSG00000035245

UniProt

Q5NDL2

neXtProt

NX_Q5NDL2

Human splice variants
Mouse splice variants

Protein structure