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Aliases for SOS1 Gene

Aliases for SOS1 Gene

  • Son Of Sevenless Homolog 1 (Drosophila) 2 3
  • Gingival Fibromatosis, Hereditary, 1 2 3
  • GINGF 3 6
  • SOS-1 3 4
  • GF1 3 6
  • HGF 3 6
  • NS4 3 6
  • Guanine Nucleotide Exchange Factor 3
  • Son Of Sevenless Homolog 1 3
  • GGF1 3

External Ids for SOS1 Gene

Previous Symbols for SOS1 Gene

  • GINGF

Summaries for SOS1 Gene

Entrez Gene Summary for SOS1 Gene

  • This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]

GeneCards Summary for SOS1 Gene

SOS1 (Son Of Sevenless Homolog 1 (Drosophila)) is a Protein Coding gene. Diseases associated with SOS1 include noonan-like/multiple giant cell lesion syndrome and noonan syndrome 4. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein heterodimerization activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGDS.

UniProtKB/Swiss-Prot for SOS1 Gene

  • 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).

Gene Wiki entry for SOS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOS1 Gene

Genomics for SOS1 Gene

Genomic Location for SOS1 Gene

Start:
38,981,396 bp from pter
End:
39,124,345 bp from pter
Size:
142,950 bases
Orientation:
Minus strand

Genomic View for SOS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOS1 Gene

Regulatory Elements for SOS1 Gene

Proteins for SOS1 Gene

  • Protein details for SOS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07889-SOS1_HUMAN
    Recommended name:
    Son of sevenless homolog 1
    Protein Accession:
    Q07889
    Secondary Accessions:
    • A8K2G3
    • B4DXG2

    Protein attributes for SOS1 Gene

    Size:
    1333 amino acids
    Molecular mass:
    152464 Da
    Quaternary structure:
    • Part 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.

    Three dimensional structures from OCA and Proteopedia for SOS1 Gene

    Alternative splice isoforms for SOS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOS1 Gene

Proteomics data for SOS1 Gene at MOPED

Post-translational modifications for SOS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOS1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SOS1 Gene

Domains for SOS1 Gene

Gene Families for SOS1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • ARHGEF :Rho guanine nucleotide exchange factors

UniProtKB/Swiss-Prot:

SOS1_HUMAN
Domain:
  • Contains 1 DH (DBL-homology) domain.:
    • Q07889
  • Contains 1 N-terminal Ras-GEF domain.:
    • Q07889
  • Contains 1 PH domain.:
    • Q07889
  • Contains 1 Ras-GEF domain.:
    • Q07889
genes like me logo Genes that share domains with SOS1: view

Function for SOS1 Gene

Molecular function for SOS1 Gene

GENATLAS Biochemistry: Drosophila son of sevenless homolog 1, regulator of Ras
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for SOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005085 guanyl-nucleotide exchange factor activity --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity TAS 9790532
genes like me logo Genes that share ontologies with SOS1: view
genes like me logo Genes that share phenotypes with SOS1: view

Animal Models for SOS1 Gene

MGI Knock Outs for SOS1:

miRNA for SOS1 Gene

miRTarBase miRNAs that target SOS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SOS1 Gene

Localization for SOS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOS1 Gene COMPARTMENTS Subcellular localization image for SOS1 gene
Compartment Confidence
cytosol 4
plasma membrane 4
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0014069 postsynaptic density IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SOS1: view

Pathways for SOS1 Gene

SuperPathways for SOS1 Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 Signaling by FGFR
3 Insulin receptor signalling cascade
4 IL-9 Signaling Pathways
5 Translation Insulin regulation of translation
genes like me logo Genes that share pathways with SOS1: view

Gene Ontology (GO) - Biological Process for SOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 8493579
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007265 Ras protein signal transduction TAS --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with SOS1: view

Compounds for SOS1 Gene

(1) HMDB Compounds for SOS1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(6) Novoseek inferred chemical compound relationships for SOS1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 64.1 14
menadione 35.1 1
phosphatidylinositol 34.1 2
gtp 17.5 1
serine 4.62 1
genes like me logo Genes that share compounds with SOS1: view

Transcripts for SOS1 Gene

Unigene Clusters for SOS1 Gene

Son of sevenless homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c ^
SP1: - - -
SP2: - -
SP3:
SP4:

ExUns: 21 ^ 22 ^ 23a · 23b
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for SOS1 Gene

GeneLoc Exon Structure for
SOS1
ECgene alternative splicing isoforms for
SOS1

Expression for SOS1 Gene

mRNA expression in normal human tissues for SOS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SOS1 Gene

SOURCE GeneReport for Unigene cluster for SOS1 Gene Hs.709893

mRNA Expression by UniProt/SwissProt for SOS1 Gene

Q07889-SOS1_HUMAN
Tissue specificity: Expressed in gingival tissues.
genes like me logo Genes that share expressions with SOS1: view

Orthologs for SOS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SOS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOS1 36
  • 99.8 (n)
  • 99.92 (a)
SOS1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOS1 36
  • 95.7 (n)
  • 99.32 (a)
SOS1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOS1 36
  • 96.07 (n)
  • 99.16 (a)
SOS1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sos1 36
  • 91.1 (n)
  • 97.88 (a)
Sos1 16
Sos1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOS1 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SOS1 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sos1 36
  • 91.5 (n)
  • 97.8 (a)
chicken
(Gallus gallus)
Aves SOS1 36
  • 83.33 (n)
  • 92.58 (a)
SOS1 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOS1 37
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sos1 36
  • 78.97 (n)
  • 89.37 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5679 36
zebrafish
(Danio rerio)
Actinopterygii sos1 37
  • 83 (a)
OneToMany
SOS1 (2 of 2) 37
  • 87 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sos 36
  • 52.73 (n)
  • 50.78 (a)
Sos 37
  • 38 (a)
OneToMany
Sos 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea sos-1 36
  • 48.28 (n)
  • 38.72 (a)
sos-1 37
  • 30 (a)
OneToMany
sos-1 38
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC25 37
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 51 (a)
OneToMany
Species with no ortholog for SOS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOS1 Gene

ENSEMBL:
Gene Tree for SOS1 (if available)
TreeFam:
Gene Tree for SOS1 (if available)

Paralogs for SOS1 Gene

Selected SIMAP similar genes for SOS1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SOS1: view

Variants for SOS1 Gene

Sequence variations from dbSNP and Humsavar for SOS1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs212322 -- 39,078,787(+) ccggg(C/T)gcggt intron-variant
rs297120 -- 39,081,505(+) acaga(A/G)tgaga intron-variant
rs297121 -- 39,081,651(+) gaaac(C/G)ccgtc intron-variant
rs297122 -- 39,082,000(+) agtta(C/T)gtcat intron-variant
rs297123 -- 39,085,219(+) TTTTC(A/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SOS1 Gene

Variant ID Type Subtype PubMed ID
nsv873884 CNV Loss 21882294
nsv873885 CNV Loss 21882294
esv1269226 CNV Insertion 17803354
esv2552919 CNV Insertion 19546169
esv271949 CNV Insertion 20981092
esv273433 CNV Insertion 20981092
esv1618069 CNV Insertion 17803354

Relevant External Links for SOS1 Gene

HapMap Linkage Disequilibrium report
SOS1
Human Gene Mutation Database (HGMD)
SOS1

Disorders for SOS1 Gene

(2) OMIM Diseases for SOS1 Gene (182530)

UniProtKB/Swiss-Prot

SOS1_HUMAN
  • 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:0000269 PubMed: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: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.

(7) Novoseek inferred disease relationships for SOS1 Gene

Disease -log(P) Hits PubMed IDs
noonan syndrome 93.3 21
fibromatosis, gingival, hereditary 84 7
cfc syndrome 77.8 4
short stature 77.2 3
heart defects congenital 60.9 2

Relevant External Links for SOS1

GeneTests
SOS1
GeneReviews
SOS1
Genetic Association Database (GAD)
SOS1
Human Genome Epidemiology (HuGE) Navigator
SOS1
genes like me logo Genes that share disorders with SOS1: view

Publications for SOS1 Gene

  1. Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. (PMID: 8493579) Chardin P. … Bar-Sagi D. (Science 1993) 3 4 23
  2. Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. (PMID: 8276400) Webb G.C. … Bowtell D.D. (Genomics 1993) 2 3 23
  3. Identification of Grb4/Nckbeta, a src homology 2 and 3 domain- containing adapter protein having similar binding and biological properties to Nck. (PMID: 10026169) Braverman L.E. … Quilliam L.A. (J. Biol. Chem. 1999) 3 4 23
  4. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PMID: 17143282) Tartaglia M. … Gelb B.D. (Nat. Genet. 2007) 3 4 23
  5. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PMID: 17143285) Roberts A.E. … Kucherlapati R.S. (Nat. Genet. 2007) 3 4 23

Products for SOS1 Gene

  • Addgene plasmids for SOS1

Sources for SOS1 Gene

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