protein O-glucosyltransferase 1
Última actualización 18 Aug 2020
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El POGLUT1 gene provides instructions for making a protein called protein O-glucosyltransferase 1. This protein is located in a cell structure called the endoplasmic reticulum, which helps with protein processing and transport. Protein O-glucosyltransferase 1 adds sugar molecules, specifically a sugar called glucose, to other proteins called Notch receptors. Notch receptors are a family of proteins that are involved in a signaling pathway that guides normal development of many tissues throughout the body, both before birth and throughout life. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand into a Notch receptor triggers signaling in the Notch pathway.
Normal function
El POGLUT1 gene provides instructions for making a protein called protein O-glucosyltransferase 1. This protein is located in a cell structure called the endoplasmic reticulum, which helps with protein processing and transport. Protein O-glucosyltransferase 1 adds sugar molecules, specifically a sugar called glucose, to other proteins called Notch receptors. Notch receptors are a family of proteins that are involved in a signaling pathway that guides normal development of many tissues throughout the body, both before birth and throughout life. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand into a Notch receptor triggers signaling in the Notch pathway.
The addition of glucose molecules alters the shape of the Notch receptor. The receptor is then able to attach (bind) to its ligand and trigger signaling. Through its integral role in Notch receptor function, protein O-glucosyltransferase 1 allows the Notch pathway to proceed. The Notch pathway regulates a variety of processes including the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).
In skin cells, Notch signaling likely plays a role in the maintenance of precursor cells that mature into pigment-producing skin cells called melanocytes and may regulate interactions between melanocytes and other skin cells called keratinocytes. Protein O-glucosyltransferase 1 is found in high levels in skin cells, particularly in the outermost layer of skin (epidermis) where melanocytes are abundant, and may have additional functions in the skin besides its involvement in Notch signaling.
Conditions referring to this gene or chromosome
Otros nombres
C3orf9
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
KTELC1
LGMD2Z
MDS010
MGC32995
O-glucosyltransferase Rumi homolog
protein O-xylosyltransferase
Rumi
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Lecturas adicionales y referencias
- protein O-glucosyltransferase 1; MedlinePlus, National Library of Medicine.
- Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Grosser L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmuller J, Rutten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nurnberg P, Kruse R, Schoch S, Hanneken S, Betz RC. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.
- Chen M, Li Y, Liu H, Fu X, Yu Y, Yu G, Wang C, Bao F, Liany H, Wang Z, Shi Z, Zhang D, Zhou G, Liu J, Zhang F. Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. PLoS One. 2014 Aug 26;9(8):e104496. doi: 10.1371/journal.pone.0104496. eCollection 2014.
- Wilson NJ, Cole C, Kroboth K, Hunter WN, Mann JA, McLean WH, Kernland Lang K, Beltraminelli H, Sabroe RA, Tiffin N, Sobey GJ, Borradori L, Simpson E, Smith FJ. Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24. No abstract available.
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