POGLUT1 : protein O-glucosyltransferase 1
Description
The POGLUT1 (protein O-glucosyltransferase 1) is a protein-coding gene located on chromosome 3.
The POGLUT1 gene provides instructions for making a protein called protein O-glucosyltransferase 1. This protein is found in the endoplasmic reticulum, a cellular structure involved in protein processing and transport. Protein O-glucosyltransferase 1 adds glucose molecules to other proteins called Notch receptors, which are crucial for normal development of various tissues before birth and throughout life. Notch receptors are like locks that bind to specific proteins called ligands, which act as keys. The addition of glucose molecules changes the shape of the Notch receptor, allowing it to bind to its ligand and activate the Notch signaling pathway. By playing a vital role in Notch receptor function, protein O-glucosyltransferase 1 ensures the proper functioning of the Notch pathway. The Notch pathway regulates various cellular processes, including cell specialization (cell fate determination), cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis). In skin cells, Notch signaling likely contributes to the maintenance of precursor cells that mature into pigment-producing melanocytes and may regulate interactions between melanocytes and keratinocytes. Protein O-glucosyltransferase 1 is highly abundant in skin cells, particularly in the epidermis, where melanocytes are concentrated, and may have additional roles in the skin beyond its involvement in Notch signaling.
POGLUT1 is a dual-specificity glycosyltransferase that adds glucose and xylose sugars to proteins. Specifically, it targets serine residues within the C-X-S-X-P-C consensus sequence found in extracellular EGF repeats of proteins like CRB2, F7, F9, and NOTCH2. POGLUT1 acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, which is crucial for muscle development. Notably, Notch glucosylation does not influence Notch ligand binding. POGLUT1 is essential during early development, promoting gastrulation through its O-glucosylation of CRB2. This glycosylation is vital for CRB2 localization to the cell membrane.
POGLUT1 is also known as C3orf9, CLP46, KDELCL1, KTELC1, LGMD2Z, LGMDR21, MDS010, MDSRP, Rumi, hCLP46.
Associated Diseases
- Dowling-Degos disease 4
- Dowling-Degos disease
- Muscular dystrophy, limb-girdle, autosomal recessive 21
- Limb-girdle muscular dystrophy
