POGLUT1

This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Description

Protein O-glucosyltransferase 1

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular

Protein family

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

Chromosome

3 (119468963 - 119494708)

Ensembl ID

ENSG00000163389  (ver. 103.38)

Orthologs

Mouse Poglut1: ENSMUSG00000034064

UniProt

Q8NBL1

neXtProt

NX_Q8NBL1

Human splice variants
Mouse splice variants

Protein structure