Ras like without CAAX 1
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A RIT1 gene provides instructions for making a protein that helps cells survive during periods of cellular stress, such as unusually high energy demands. As part of a signaling pathway known as the RAS/MAPK pathway, the RIT1 protein relays signals from outside the cell to the cell's nucleus. These signals instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). The RIT1 protein is a GTPase, which means it converts a molecule called GTP into another molecule called GDP. To transmit signals during periods of cellular stress, the RIT1 protein is turned on by attaching (binding) to a molecule of GTP. The RIT1 protein is turned off (inactivated) when it converts the GTP to GDP. When the protein is bound to GDP, it does not relay signals to the cell's nucleus.
Normal function
A RIT1 gene provides instructions for making a protein that helps cells survive during periods of cellular stress, such as unusually high energy demands. As part of a signaling pathway known as the RAS/MAPK pathway, the RIT1 protein relays signals from outside the cell to the cell's nucleus. These signals instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). The RIT1 protein is a GTPase, which means it converts a molecule called GTP into another molecule called GDP. To transmit signals during periods of cellular stress, the RIT1 protein is turned on by attaching (binding) to a molecule of GTP. The RIT1 protein is turned off (inactivated) when it converts the GTP to GDP. When the protein is bound to GDP, it does not relay signals to the cell's nucleus.
A RIT1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. The RIT1 gene is in the Ras family of oncogenes, which also includes three other genes: KRAS, HRAS, e NRAS. These proteins play important roles in cell division, cell differentiation, and the self-destruction of cells (apoptosis).
Conditions referring to this gene or chromosome
Other names
GTP-binding protein Roc1
MGC125864
MGC125865
Ras-like without CAAX 1
ras-like without CAAX protein 1
RIBB
RIT
ROC1
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Leitura adicional e referências
- Ras like without CAAX 1; MedlinePlus, National Library of Medicine.
- Berger AH, Imielinski M, Duke F, Wala J, Kaplan N, Shi GX, Andres DA, Meyerson M. Oncogenic RIT1 mutations in lung adenocarcinoma. Oncogene. 2014 Aug 28;33(35):4418-23. doi: 10.1038/onc.2013.581. Epub 2014 Jan 27.
- Gomez-Segui I, Makishima H, Jerez A, Yoshida K, Przychodzen B, Miyano S, Shiraishi Y, Husseinzadeh HD, Guinta K, Clemente M, Hosono N, McDevitt MA, Moliterno AR, Sekeres MA, Ogawa S, Maciejewski JP. Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies. Leukemia. 2013 Sep;27(9):1943-6. doi: 10.1038/leu.2013.179. Epub 2013 Jun 14. No abstract available.
- Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Luttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerova A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21.
- Milosavljevic D, Overwater E, Tamminga S, de Boer K, Elting MW, van Hoorn ME, Rinne T, Houweling AC. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. Am J Med Genet A. 2016 Jul;170(7):1874-80. doi: 10.1002/ajmg.a.37657. Epub 2016 Apr 25.
- Shi GX, Jin L, Andres DA. A rit GTPase-p38 mitogen-activated protein kinase survival pathway confers resistance to cellular stress. Mol Cell Biol. 2011 May;31(10):1938-48. doi: 10.1128/MCB.01380-10. Epub 2011 Mar 28.
- Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, Garcia-Minaur S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.
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