词条 | SOS1 |
释义 |
FunctionRAS genes (e.g., MIM 190020) encode membrane-bound guanine nucleotide-binding proteins that function in the transduction of signals that control cell growth and differentiation. Binding of GTP activates RAS proteins, and subsequent hydrolysis of the bound GTP to GDP and phosphate inactivates signaling by these proteins. GTP binding can be catalyzed by guanine nucleotide exchange factors for RAS, and GTP hydrolysis can be accelerated by GTPase-activating proteins (GAPs). The first exchange factor to be identified for RAS was the S. cerevisiae CDC25 gene product. Genetic analysis indicated that CDC25 is essential for activation of RAS proteins. In Drosophila, the protein encoded by the 'son of sevenless' gene (Sos) contains a domain that shows sequence similarity with the catalytic domain of CDC25. Sos may act as a positive regulator of RAS by promoting guanine nucleotide exchange.[supplied by OMIM][3] Clinical significanceRecent studies also show that mutations in Sos1 can cause Noonan syndrome[4] and hereditary gingival fibromatosis type 1.[5] Noonan syndrome has also been shown to be caused by mutations in KRAS and PTPN11 genes.[6] activators of the MAP kinase pathway. InteractionsSOS1 has been shown to interact with: {{div col|colwidth=20em}}
See also
References1. ^{{cite journal | vauthors = Webb GC, Jenkins NA, Largaespada DA, Copeland NG, Fernandez CS, Bowtell DD | title = Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively | journal = Genomics | volume = 18 | issue = 1 | pages = 14–9 | date = February 1994 | pmid = 8276400 | pmc = | doi = 10.1006/geno.1993.1421 }} 2. ^{{cite journal | vauthors = Xiao S, Wang X, Qu B, Yang M, Liu G, Bu L, Wang Y, Zhu L, Lei H, Hu L, Zhang X, Liu J, Zhao G, Kong X | title = Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21 | journal = Genomics | volume = 68 | issue = 3 | pages = 247–52 | date = November 2000 | pmid = 10995566 | pmc = | doi = 10.1006/geno.2000.6285 }} 3. ^{{cite web | title = Entrez Gene: SOS1 son of sevenless homolog 1 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6654| accessdate = }} 4. ^{{cite journal | vauthors = Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS | title = Germline gain-of-function mutations in SOS1 cause Noonan syndrome | journal = Nat. Genet. | volume = 39 | issue = 1 | pages = 70–4 | date = January 2007 | pmid = 17143285 | doi = 10.1038/ng1926 | url = | issn = }} 5. ^{{cite journal | vauthors = Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D | title = A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1 | journal = Am. J. Hum. Genet. | volume = 70 | issue = 4 | pages = 943–54 | date = April 2002 | pmid = 11868160 | pmc = 379122 | doi = 10.1086/339689 | url = | issn = }} 6. ^{{cite journal | vauthors = Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD | title = Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome | journal = Nat. 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Biol. | volume = 15 | issue = 3 | pages = 1169–74 | date = March 1995 | pmid = 7862111 | pmc = 230339 | doi = }} 39. ^{{cite journal | vauthors = Braverman LE, Quilliam LA | title = Identification of Grb4/Nckbeta, a src homology 2 and 3 domain-containing adapter protein having similar binding and biological properties to Nck | journal = J. Biol. Chem. | volume = 274 | issue = 9 | pages = 5542–9 | date = February 1999 | pmid = 10026169 | doi = 10.1074/jbc.274.9.5542}} 40. ^{{cite journal | vauthors = Kim MJ, Chang JS, Park SK, Hwang JI, Ryu SH, Suh PG | title = Direct interaction of SOS1 Ras exchange protein with the SH3 domain of phospholipase C-gamma1 | journal = Biochemistry | volume = 39 | issue = 29 | pages = 8674–82 | date = July 2000 | pmid = 10913276 | doi = 10.1021/bi992558t}} 41. ^{{cite journal | vauthors = Scholler JK, Perez-Villar JJ, O'Day K, Kanner SB | title = Engagement of the T lymphocyte antigen receptor regulates association of son-of-sevenless homologues with the SH3 domain of phospholipase Cgamma1 | journal = Eur. J. Immunol. | volume = 30 | issue = 8 | pages = 2378–87 | date = August 2000 | pmid = 10940929 | doi = 10.1002/1521-4141(2000)30:8<2378::AID-IMMU2378>3.0.CO;2-E }} 42. ^1 2 {{cite journal | vauthors = Chin H, Saito T, Arai A, Yamamoto K, Kamiyama R, Miyasaka N, Miura O | title = Erythropoietin and IL-3 induce tyrosine phosphorylation of CrkL and its association with Shc, SHP-2, and Cbl in hematopoietic cells | journal = Biochem. Biophys. Res. Commun. | volume = 239 | issue = 2 | pages = 412–7 | date = October 1997 | pmid = 9344843 | doi = 10.1006/bbrc.1997.7480 }} 43. ^{{cite journal | vauthors = Hadari YR, Kouhara H, Lax I, Schlessinger J | title = Binding of Shp2 tyrosine phosphatase to FRS2 is essential for fibroblast growth factor-induced PC12 cell differentiation | journal = Mol. Cell. Biol. | volume = 18 | issue = 7 | pages = 3966–73 | date = July 1998 | pmid = 9632781 | pmc = 108981 | doi = }} 44. ^{{cite journal | vauthors = Watanabe S, Take H, Takeda K, Yu ZX, Iwata N, Kajigaya S | title = Characterization of the CIN85 adaptor protein and identification of components involved in CIN85 complexes | journal = Biochem. Biophys. Res. Commun. | volume = 278 | issue = 1 | pages = 167–74 | date = November 2000 | pmid = 11071869 | doi = 10.1006/bbrc.2000.3760 }} Further reading{{Refbegin|35em}}
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