POGLUT1, protein O-glucosyltransferase 1

POGLUT1, protein O-glucosyltransferase 1

• 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]

• Gene Synonyms (C3orf9, CLP46, KDELCL1, KTELC1, LGMD2Z, LGMDR21, MDS010, MDSRP, Rumi, hCLP46, protein O-glucosyltransferase 1, 9630046K23Rik, CAP10-like 46 kDa protein, KDELC family like 1, KTEL (Lys-Tyr-Glu-Leu) containing 1, KTEL motif-containing protein 1, O-glucosyltransferase Rumi homolog, hRumi, myelodysplastic syndromes relative protein, protein O-xylosyltransferase, protein O-xylosyltransferase POGLUT1, x 010 protein,)
• NCBI Gene ID: 56983
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8NBL1
  UNIPROT ID#>>B4DJ97
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

protein O-glucosyltransferase 1 interacts with:

• cyclic GMP-AMP synthase
  DEAH-box helicase 40
  dipeptidase 2
  HECT domain E3 ubiquitin protein ligase 3
  LY6/PLAUR domain containing 4
  lysozyme like 1
  lysozyme like 2
  transmembrane protein 25

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.