POGLUT1 (NM_152305) - protein O-glucosyltransferase 1
Protein O-Glucosyltransferase 1 Precursor
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
If you have any questions or feedback about this protein:
Contact us
PTM Interaction Network Visualisation
Protein summary
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].
- Strand
- +
- Chromosome
- 3
- Protein
- 392 residues
- All mutations
- 63
- PTM sites
- 12
- CDS
- 119,187,868 - 119,211,285
- Transcription
- 119,187,784 - 119,213,554
Usage summary
Network
PTM site
Kinases group
|
Kinase, PTM site or protein
|