protein O-fucosyltransferase 1
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L POFUT1 gene provides instructions for making a protein called protein O-fucosyltransferase 1. This protein is located in a cell structure called the endoplasmic reticulum, which helps with protein processing and transport. Protein O-fucosyltransferase 1 adds sugar molecules, specifically a sugar called fucose, 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 pathway.
Normal function
L POFUT1 gene provides instructions for making a protein called protein O-fucosyltransferase 1. This protein is located in a cell structure called the endoplasmic reticulum, which helps with protein processing and transport. Protein O-fucosyltransferase 1 adds sugar molecules, specifically a sugar called fucose, 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 pathway.
The addition of fucose 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-fucosyltransferase 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.
Conditions referring to this gene or chromosome
Altri nomi
FUT12
KIAA0180
O-Fuc-T
o-fucosyltransferase protein
O-FucT-1
O-FUT
OFUCT1
peptide-O-fucosyltransferase 1
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Ulteriori letture e riferimenti
- protein O-fucosyltransferase 1; MedlinePlus, National Library of Medicine.
- Buket Basmanav F, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmuller J, Pulimood SA, Rutten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol. 2015 Feb;135(2):615-618. doi: 10.1038/jid.2014.406. Epub 2014 Sep 17. No abstract available.
- Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013 Jun 6;92(6):895-903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16.
- McMillan BJ, Zimmerman B, Egan ED, Lofgren M, Xu X, Hesser A, Blacklow SC. Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations. Glycobiology. 2017 Aug 1;27(8):777-786. doi: 10.1093/glycob/cwx020.
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