SOS1

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Son of sevenless homolog 1 (Drosophila)
Protein SOS1 PDB 1awe.png
PDB rendering based on 1awe.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SOS1 ; GF1; GGF1; GINGF; HGF; NS4
External IDs OMIM182530 MGI98354 HomoloGene4117 GeneCards: SOS1 Gene
RNA expression pattern
PBB GE SOS1 212777 at tn.png
PBB GE SOS1 212780 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6654 20662
Ensembl ENSG00000115904 ENSMUSG00000024241
UniProt Q07889 Q62245
RefSeq (mRNA) NM_005633 NM_009231
RefSeq (protein) NP_005624 NP_033257
Location (UCSC) Chr 2:
39.21 – 39.35 Mb
Chr 17:
80.39 – 80.48 Mb
PubMed search [1] [2]

Son of sevenless homolog 1 is a protein that in humans is encoded by the SOS1 gene.[1][2]

Function[edit]

RAS 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 significance[edit]

Recent 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.

Interactions[edit]

SOS1 has been shown to interact with:

See also[edit]


References[edit]

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  2. ^ Xiao S, Wang X, Qu B, Yang M, Liu G, Bu L et al. (November 2000). "Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21". Genomics 68 (3): 247–52. doi:10.1006/geno.2000.6285. PMID 10995566. 
  3. ^ "Entrez Gene: SOS1 son of sevenless homolog 1 (Drosophila)". 
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  5. ^ Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML et al. (April 2002). "A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1". Am. J. Hum. Genet. 70 (4): 943–54. doi:10.1086/339689. PMC 379122. PMID 11868160. 
  6. ^ Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H et al. (December 2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome". Nat. Genet. 29 (4): 465–8. doi:10.1038/ng772. PMID 11704759. 
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Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.