InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOS1

Summary

InnateDB Protein

IDBP-373300.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SOS1

Protein Name

son of sevenless homolog 1 (Drosophila)

Synonyms

GF1; GGF1; GINGF; HGF; NS4;

Species

Homo sapiens

Ensembl Protein

ENSP00000387784

InnateDB Gene

IDBG-47279 (SOS1)

Protein Structure

UniProt Annotation

Function

Promotes 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}.

Subcellular Localization

Disease Associations

Gingival 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:0000269PubMed:11868160}. Note=The disease is caused by mutations affecting the gene represented in this entry.Noonan 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:0000269PubMed:17143282, ECO:0000269PubMed:17143285, ECO:0000269PubMed:19020799, ECO:0000269PubMed:19438935, ECO:0000269PubMed:19953625, ECO:0000269PubMed:20673819, ECO:0000269PubMed:20683980, ECO:0000269PubMed:21387466}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in gingival tissues. {ECO:0000269PubMed:11868160}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 71 experimentally validated interaction(s) in this database.
They are also associated with 21 interaction(s) predicted by orthology.

Experimentally validated
Total	71 [view]
Protein-Protein	71 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	21 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005088	Ras guanyl-nucleotide exchange factor activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005100	Rho GTPase activator activity
GO:0005515	protein binding
GO:0017124	SH3 domain binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0007165	signal transduction
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007264	small GTPase mediated signal transduction
GO:0007265	Ras protein signal transduction
GO:0007411	axon guidance
GO:0007596	blood coagulation
GO:0008286	insulin receptor signaling pathway
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0030168	platelet activation
GO:0032318	regulation of Ras GTPase activity
GO:0032320	positive regulation of Ras GTPase activity
GO:0032321	positive regulation of Rho GTPase activity
GO:0035023	regulation of Rho protein signal transduction
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0043065	positive regulation of apoptotic process
GO:0045087	innate immune response
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0050900	leukocyte migration
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0051057	positive regulation of small GTPase mediated signal transduction
GO:0097190	apoptotic signaling pathway

Cellular Component

GO:0005622	intracellular
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0014069	postsynaptic density
GO:0043025	neuronal cell body

Protein Structure and Domains

PDB ID

InterPro

IPR000219 Dbl homology (DH) domain
IPR000651 Ras-like guanine nucleotide exchange factor, N-terminal
IPR001849 Pleckstrin homology domain
IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
IPR007125 Histone core
IPR009072 Histone-fold
IPR023578 Ras guanine nucleotide exchange factor domain

PFAM

PF00621
PF00618
PF00169
PF00617
PF00125

PRINTS

PIRSF

SMART

SM00325
SM00229
SM00233
SM00147

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q07889