[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Brain;
PubMed=8493579 [NCBI, ExPASy, EBI, Israel, Japan]
Chardin P.,
Camonis J.H.,
Gale N.W.,
van Aelst L.,
Wigler M.H.,
Bar-Sagi D.;
"Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.";
Science 260:1338-1343(1993).
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[2]
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IDENTIFICATION IN A COMPLEX WITH MUC1 AND GRB2, AND INTERACTION WITH MUC1.
PubMed=7664271 [NCBI, ExPASy, EBI, Israel, Japan]
Pandey P.,
Kharbanda S.,
Kufe D.;
"Association of the DF3/MUC1 breast cancer antigen with Grb2 and the Sos/Ras exchange protein.";
Cancer Res. 55:4000-4003(1995).
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[3]
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INTERACTION WITH LAT2.
DOI=10.1084/jem.20021405; PubMed=12486104 [NCBI, ExPASy, EBI, Israel, Japan]
Brdicka T.,
Imrich M.,
Angelisova P.,
Brdickova N.,
Horvath O.,
Spicka J.,
Hilgert I.,
Luskova P.,
Draber P.,
Novak P.,
Engels N.,
Wienands J.,
Simeoni L.,
Oesterreicher J.,
Aguado E.,
Malissen M.,
Schraven B.,
Horejsi V.;
"Non-T cell activation linker (NTAL): a transmembrane adaptor protein involved in immunoreceptor signaling.";
J. Exp. Med. 196:1617-1626(2002).
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[4]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1082 AND SER-1210, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1073/pnas.0404720101; PubMed=15302935 [NCBI, ExPASy, EBI, Israel, Japan]
Beausoleil S.A.,
Jedrychowski M.,
Schwartz D.,
Elias J.E.,
Villen J.,
Li J.,
Cohn M.A.,
Cantley L.C.,
Gygi S.P.;
"Large-scale characterization of HeLa cell nuclear phosphoproteins.";
Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
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[5]
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STRUCTURE BY NMR OF 422-551.
DOI=10.1074/jbc.272.48.30340; PubMed=9374522 [NCBI, ExPASy, EBI, Israel, Japan]
Zheng J.,
Chen R.H.,
Corblan-Garcia S.,
Cahill S.M.,
Bar-Sagi D.,
Cowburn D.;
"The solution structure of the pleckstrin homology domain of human SOS1. A possible structural role for the sequential association of diffuse B cell lymphoma and pleckstrin homology domains.";
J. Biol. Chem. 272:30340-30344(1997).
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[6]
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X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 198-551.
DOI=10.1016/S0092-8674(00)81756-0; PubMed=9790532 [NCBI, ExPASy, EBI, Israel, Japan]
Soisson S.M.,
Nimnual A.S.,
Uy M.,
Bar-Sagi D.,
Kuriyan J.;
"Crystal structure of the Dbl and pleckstrin homology domains from the human Son of sevenless protein.";
Cell 95:259-268(1998).
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[7]
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INVOLVEMENT IN GGF1, AND TISSUE SPECIFICITY.
DOI=10.1086/339689; PubMed=11868160 [NCBI, ExPASy, EBI, Israel, Japan]
Hart T.C.,
Zhang Y.,
Gorry M.C.,
Hart P.S.,
Cooper M.,
Marazita M.L.,
Marks J.M.,
Cortelli J.R.,
Pallos D.;
"A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.";
Am. J. Hum. Genet. 70:943-954(2002).
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[8]
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VARIANTS NS4 LYS-266; ARG-269; TYR-309; CYS-337; ARG-434; ARG-548; GLY-552 AND LYS-846, AND VARIANT LEU-655.
DOI=10.1038/ng1926; PubMed=17143285 [NCBI, ExPASy, EBI, Israel, Japan]
Roberts A.E.,
Araki T.,
Swanson K.D.,
Montgomery K.T.,
Schiripo T.A.,
Joshi V.A.,
Li L.,
Yassin Y.,
Tamburino A.M.,
Neel B.G.,
Kucherlapati R.S.;
"Germline gain-of-function mutations in SOS1 cause Noonan syndrome.";
Nat. Genet. 39:70-74(2007).
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[9]
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VARIANTS NS4 LYS-108; ARG-269; ARG-432; LYS-433; TYR-441; ARG-548; PRO-550; GLY-552; LYS-552; SER-552; HIS-702; LEU-729; PHE-733 AND LYS-846, VARIANTS LEU-655; ARG-977 AND ARG-1320, AND CHARACTERIZATION OF VARIANTS NS4 GLY-552 AND LEU-729.
DOI=10.1038/ng1939; PubMed=17143282 [NCBI, ExPASy, EBI, Israel, Japan]
Tartaglia M.,
Pennacchio L.A.,
Zhao C.,
Yadav K.K.,
Fodale V.,
Sarkozy A.,
Pandit B.,
Oishi K.,
Martinelli S.,
Schackwitz W.,
Ustaszewska A.,
Martin J.,
Bristow J.,
Carta C.,
Lepri F.,
Neri C.,
Vasta I.,
Gibson K.,
Curry C.J., ![]()
Lopez Siguero J.P.,
Digilio M.C.,
Zampino G.,
Dallapiccola B.,
Bar-Sagi D.,
Gelb B.D.;
"Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.";
Nat. Genet. 39:75-79(2007).
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- FUNCTION: Promotes the exchange of Ras-bound GDP by GTP.
- SUBUNIT: Interacts with GRB2. Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2.
- INTERACTION:
Q9Y5K6:CD2AP; NbExp=1; IntAct=EBI-297487, EBI-298152;
P62993:GRB2; NbExp=2; IntAct=EBI-297487, EBI-401755;
P08631:HCK; NbExp=1; IntAct=EBI-297487, EBI-346340;
P01112:HRAS; NbExp=1; IntAct=EBI-297487, EBI-350145;
P16333:NCK1; NbExp=1; IntAct=EBI-297487, EBI-389883;
Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-297487, EBI-77926;
Q96RF0:SNAG1; NbExp=1; IntAct=EBI-297487, EBI-298169;
Q9Y5X1:SNX9; NbExp=2; IntAct=EBI-297487, EBI-77848;
- TISSUE SPECIFICITY: Expressed in gingival tissues.
- DISEASE: Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:135300]; also designated GINGF1. Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.
- DISEASE: Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:610733]. NS4 is an autosomal dominant disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in 1000-2500 live births. Rarely, NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1 mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common.
- SIMILARITY: Contains 1 DH (DBL-homology) domain.
- SIMILARITY: Contains 1 N-terminal Ras-GEF domain.
- SIMILARITY: Contains 1 PH domain.
- SIMILARITY: Contains 1 Ras-GEF domain.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=SOS1";.
- WEB RESOURCE: Name=Wikipedia; Note=Son of sevenless entry; URL="http://en.wikipedia.org/wiki/Son_of_Sevenless";.
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