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Aliases for SOS1 Gene

Aliases for SOS1 Gene

  • SOS Ras/Rac Guanine Nucleotide Exchange Factor 1 2 3 5
  • Gingival Fibromatosis, Hereditary, 1 2 3
  • SOS-1 3 4
  • Son Of Sevenless Homolog 1 (Drosophila) 2
  • Guanine Nucleotide Exchange Factor 3
  • GINGF 3
  • GGF1 3
  • GF1 3
  • HGF 3
  • NS4 3

External Ids for SOS1 Gene

Previous HGNC Symbols for SOS1 Gene

  • GINGF

Previous GeneCards Identifiers for SOS1 Gene

  • GC02M039177
  • GC02M039359
  • GC02M039187
  • GC02M039124
  • GC02M039066
  • GC02M038947
  • GC02M039208

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 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with SOS1 include noonan syndrome 4 and fibromatosis, gingival, 1. Among its related pathways are Endometrial cancer and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include protein heterodimerization activity and SH3 domain binding. An important paralog of this gene is RALGDS.

UniProtKB/Swiss-Prot for SOS1 Gene

  • Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). 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

Regulatory Elements for SOS1 Gene

Enhancers for SOS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SOS1 on UCSC Golden Path with GeneCards custom track

Promoters for SOS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOS1 Gene

Chromosome:
2
Start:
38,981,396 bp from pter
End:
39,124,744 bp from pter
Size:
143,349 bases
Orientation:
Minus strand

Genomic View for SOS1 Gene

Genes around SOS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    • Interacts (via C-terminus) with GRB2 (via SH3 domain) (PubMed:8493579, PubMed:7664271). Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains) (PubMed:7664271). Interacts with phosphorylated LAT2 (PubMed:12486104). Interacts with NCK1 and NCK2 (PubMed:10026169). Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity).

    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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SOS1 (SOS1)

No data available for DME Specific Peptides for SOS1 Gene

Domains & Families for SOS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q07889

UniProtKB/Swiss-Prot:

SOS1_HUMAN :
  • Contains 1 DH (DBL-homology) domain.
Domain:
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 N-terminal Ras-GEF domain.
  • Contains 1 PH domain.
  • Contains 1 Ras-GEF domain.
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 (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). 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: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

Human Phenotype Ontology for SOS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOS1 Gene

MGI Knock Outs for SOS1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
plasma membrane 5
nucleus 4
golgi apparatus 2
vacuole 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with SOS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SOS1 Gene

Pathways & Interactions for SOS1 Gene

SuperPathways for SOS1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Translation Insulin regulation of translation
3 IL-7 Signaling Pathways
4 Development HGF signaling pathway
5 IL-2 Pathway
genes like me logo Genes that share pathways with SOS1: view

SIGNOR curated interactions for SOS1 Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for SOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0001782 B cell homeostasis IEA --
GO:0001942 hair follicle development IEA --
GO:0002260 lymphocyte homeostasis IEA --
genes like me logo Genes that share ontologies with SOS1: view

Drugs & Compounds for SOS1 Gene

(4) Drugs for SOS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for SOS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for SOS1 Gene

This gene is overexpressed in Plasma (26.4) and Peripheral blood mononuclear cells (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SOS1: view

Protein tissue co-expression partners for SOS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SOS1 Gene

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
cow
(Bos Taurus)
Mammalia SOS1 35
  • 95.7 (n)
  • 99.32 (a)
SOS1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOS1 35
  • 96.07 (n)
  • 99.16 (a)
SOS1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sos1 35
  • 91.1 (n)
  • 97.88 (a)
Sos1 16
Sos1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SOS1 35
  • 99.8 (n)
  • 99.92 (a)
SOS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sos1 35
  • 91.5 (n)
  • 97.8 (a)
oppossum
(Monodelphis domestica)
Mammalia SOS1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SOS1 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOS1 35
  • 83.33 (n)
  • 92.58 (a)
SOS1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOS1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sos1 35
  • 78.97 (n)
  • 89.37 (a)
zebrafish
(Danio rerio)
Actinopterygii sos1 36
  • 83 (a)
OneToMany
SOS1 (2 of 2) 36
  • 87 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5679 35
fruit fly
(Drosophila melanogaster)
Insecta Sos 37
  • 50 (a)
Sos 35
  • 52.73 (n)
  • 50.78 (a)
Sos 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sos-1 36
  • 30 (a)
OneToMany
sos-1 35
  • 48.28 (n)
  • 38.72 (a)
sos-1 37
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC25 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(2) 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
VAR_030423 Noonan syndrome 4 (NS4)
rs137852812 Noonan syndrome 4 (NS4) 39,051,211(-) AGATA(A/C)AGTAG reference, missense
rs137852813 Noonan syndrome 4 (NS4) 39,051,202(-) AGAAA(C/G/T)GACAG reference, missense
VAR_030426 Noonan syndrome 4 (NS4)
VAR_030427 Noonan syndrome 4 (NS4)

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

Variation tolerance for SOS1 Gene

Residual Variation Intolerance Score: 2.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOS1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOS1 Gene

Disorders for SOS1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SOS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
noonan syndrome 4
  • ns4
fibromatosis, gingival, 1
  • hereditary gingival fibromatosis
sos1-related noonan syndrome
  • noonan syndrome 4
gingival fibromatosis
  • hereditary gingival fibromatosis
noonan syndrome 1
  • noonan syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SOS1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SOS1

Genetic Association Database (GAD)
SOS1
Human Genome Epidemiology (HuGE) Navigator
SOS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOS1
genes like me logo Genes that share disorders with SOS1: view

No data available for Genatlas for SOS1 Gene

Publications for SOS1 Gene

  1. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PMID: 19020799) Ko J.M. … Yoo H.W. (J. Hum. Genet. 2008) 3 4 48 67
  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. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (PMID: 19953625) Denayer E. … Legius E. (Genes Chromosomes Cancer 2010) 3 23
  4. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (PMID: 20186801) Pierpont E.I. … Seidenberg M.S. (Am. J. Med. Genet. A 2010) 3 23
  5. Decreased expression of FGFR1, SOS1, RAF1 genes in cryptorchidism. (PMID: 20389169) Hadziselimovic N.O. … Hadziselimovic F. (Urol. Int. 2010) 3 23

Products for SOS1 Gene

Sources for SOS1 Gene

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