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MGP002954

UniProt Annotations

Entry Information
Gene Nameson of sevenless homolog 1 (Drosophila)
Protein EntrySOS1_HUMAN
UniProt IDQ07889
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q07889-1; Sequence=Displayed; Name=2; IsoId=Q07889-2; Sequence=VSP_056463, VSP_056464, VSP_056465; Note=No experimental confirmation available.;
DiseaseGingival fibromatosis 1 (GGF1) [MIM:135300]: 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. {ECO:0000269|PubMed:11868160}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNoonan syndrome 4 (NS4) [MIM:610733]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:19020799, ECO:0000269|PubMed:19438935, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:20673819, ECO:0000269|PubMed:20683980, ECO:0000269|PubMed:21387466}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPromotes the exchange of Ras-bound GDP by GTP. Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity). {ECO:0000250}.
InteractionQ5TCZ1-2:-; NbExp=5; IntAct=EBI-297487, EBI-7014859; P46108:CRK; NbExp=3; IntAct=EBI-297487, EBI-886; P46109:CRKL; NbExp=2; IntAct=EBI-297487, EBI-910; P62993:GRB2; NbExp=22; IntAct=EBI-297487, EBI-401755; P08631:HCK; NbExp=4; IntAct=EBI-297487, EBI-346340; P01112:HRAS; NbExp=8; IntAct=EBI-297487, EBI-350145; P16333:NCK1; NbExp=5; IntAct=EBI-297487, EBI-389883; P20929:NEB; NbExp=3; IntAct=EBI-297487, EBI-1049657; Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-297487, EBI-77926; P27986:PIK3R1; NbExp=3; IntAct=EBI-297487, EBI-79464; P19174:PLCG1; NbExp=3; IntAct=EBI-297487, EBI-79387; P29353:SHC1; NbExp=2; IntAct=EBI-297487, EBI-78835; Q9Y5X1:SNX9; NbExp=2; IntAct=EBI-297487, EBI-77848;
SimilarityContains 1 DH (DBL-homology) domain. {ECO:0000255|PROSITE-ProRule:PRU00062}.
SimilarityContains 1 N-terminal Ras-GEF domain. {ECO:0000255|PROSITE-ProRule:PRU00135}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 Ras-GEF domain. {ECO:0000255|PROSITE- ProRule:PRU00168}.
SubunitPart of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts with GRB2. Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2. Interacts with NCK1 and NCK2. {ECO:0000250, ECO:0000269|PubMed:10026169, ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:7664271}.
Tissue SpecificityExpressed in gingival tissues. {ECO:0000269|PubMed:11868160}.
Web ResourceName=Wikipedia; Note=Son of sevenless entry; URL="http://en.wikipedia.org/wiki/Son_of_Sevenless";
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