glutamate receptor interacting protein 1
Última actualización 18 Aug 2020
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El GRIP1 gene provides instructions for making a protein that is able to attach (bind) to other proteins and is important for moving (targeting) proteins to the correct location in cells. For example, the GRIP1 protein targets two proteins called FRAS1 and FREM2 to the correct region of the cell so that they can form a group of proteins known as the FRAS/FREM complex. This complex is found in the thin, sheet-like structures (basement membranes) that separate and support the cells of many tissues. The complex is particularly important during development before birth. One of its roles is to anchor the top layer of skin by connecting the basement membrane of the top layer to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of certain other organs and tissues, including the kidneys, although the mechanism is unclear.
Normal function
El GRIP1 gene provides instructions for making a protein that is able to attach (bind) to other proteins and is important for moving (targeting) proteins to the correct location in cells. For example, the GRIP1 protein targets two proteins called FRAS1 and FREM2 to the correct region of the cell so that they can form a group of proteins known as the FRAS/FREM complex. This complex is found in the thin, sheet-like structures (basement membranes) that separate and support the cells of many tissues. The complex is particularly important during development before birth. One of its roles is to anchor the top layer of skin by connecting the basement membrane of the top layer to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of certain other organs and tissues, including the kidneys, although the mechanism is unclear.
In addition, the GRIP1 protein targets necessary proteins to the junctions (synapses) between nerve cells (neurons) in the brain where cell-to-cell communication occurs. GRIP1 may also be involved in the development of neurons.
Conditions referring to this gene or chromosome
Otros nombres
glutamate receptor-interacting protein 1
GRIP
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Lecturas adicionales y referencias
- glutamate receptor interacting protein 1; MedlinePlus, National Library of Medicine.
- Dong H, Zhang P, Song I, Petralia RS, Liao D, Huganir RL. Characterization of the glutamate receptor-interacting proteins GRIP1 and GRIP2. J Neurosci. 1999 Aug 15;19(16):6930-41. doi: 10.1523/JNEUROSCI.19-16-06930.1999.
- Heisler FF, Lee HK, Gromova KV, Pechmann Y, Schurek B, Ruschkies L, Schroeder M, Schweizer M, Kneussel M. GRIP1 interlinks N-cadherin and AMPA receptors at vesicles to promote combined cargo transport into dendrites. Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):5030-5. doi: 10.1073/pnas.1304301111. Epub 2014 Mar 17.
- Ikeda S, Akamatsu C, Ijuin A, Nagashima A, Sasaki M, Mochizuki A, Nagase H, Enomoto Y, Kuroda Y, Kurosawa K, Ishikawa H. Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2. Hum Genome Var. 2020 Oct 2;7:32. doi: 10.1038/s41439-020-00119-5. eCollection 2020.
- Long J, Wei Z, Feng W, Yu C, Zhao YX, Zhang M. Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. J Mol Biol. 2008 Feb 1;375(5):1457-68. doi: 10.1016/j.jmb.2007.11.088. Epub 2007 Dec 4.
- Schanze D, Kayserili H, Satkin BN, Altunoglu U, Zenker M. Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum. Am J Med Genet A. 2014 Mar;164A(3):837-40. doi: 10.1002/ajmg.a.36343. Epub 2013 Dec 19. No abstract available.
- Short K, Wiradjaja F, Smyth I. Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion. IUBMB Life. 2007 Jul;59(7):427-35. doi: 10.1080/15216540701510581.
- Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, Scambler PJ, Huganir RL, Adams RH. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet. 2004 Feb;36(2):172-7. doi: 10.1038/ng1292. Epub 2004 Jan 18.
- Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17.
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