Recombinant Human Protein O-glucosyltransferase 1 (POGLUT1)

Uniprot Id

Q8NBL1

Target Species

Human

Target Name

POGLUT1

Target Full Name

Protein O-glucosyltransferase 1

Target Function

Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C. Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2. Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development. Notch glucosylation does not affect Notch ligand binding. Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane.

Target Involvement

Dowling-Degos disease 4 (DDD4); Limb-girdle muscular dystrophy 2Z (LGMD2Z)

Target Subcellular Location

Endoplasmic reticulum lumen.

Target Protein Families

Glycosyltransferase 90 family

Target Tissue Specificity

Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. E

Target Synonyms

C3orf9; CAP10 like 46 kDa protein ; CAP10 like protein, 46 kDa ; CAP10-like 46 kDa protein; CLP46; hCLP46; hRumi; KDELC family like 1 ; KDELCL1; KTEL (Lys Tyr Glu Leu) containing 1 ; KTEL motif containing protein 1 ; KTEL motif-containing protein 1; KTEL1; KTELC1; MDS010; MDSRP; Myelodysplastic syndromes relative protein; O-glucosyltransferase rumi homolog; PGLT1_HUMAN; Poglut1; protein O glucosyltransferase 1; Protein O-glucosyltransferase 1; Protein O-xylosyltransferase; Rumi; x 010 protein

Target Background

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.