POGLUT1

POGLUT1 is 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.

Protein O-Glucosyltransferase 1

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 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322).
Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322).
Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076).
Notch glucosylation does not affect Notch ligand binding (PubMed:21490058).
Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity).

Axial mesoderm developmentIEA:Ensembl
Circulatory system developmentIEA:Ensembl
GastrulationIEA:UniProtKB-KW
Muscle tissue developmentManual Assertion Based On ExperimentIMP:UniProtKB
Paraxial mesoderm developmentIEA:Ensembl
Positive regulation of Notch signaling pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Protein O-linked glycosylationManual Assertion Based On ExperimentIDA:MGI
Protein O-linked glycosylation via serineManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of gastrulationISS:UniProtKB
SomitogenesisIEA:Ensembl

Endoplasmic reticulum lumen

Dowling-Degos disease 4 (DDD4):
A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.
Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21):
A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset.