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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SOS1 Gene

protein-coding   GIFtS: 71
GCID: GC02M039208

Son Of Sevenless Homolog 1 (Drosophila)

(Previous names: gingival fibromatosis, hereditary, 1)
(Previous symbol: GINGF)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Son Of Sevenless Homolog 1 (Drosophila)1 2     HGF2 5
GINGF1 2 5     NS42 5
Gingival Fibromatosis, Hereditary, 11 2     GGF12
SOS-12 3     Guanine Nucleotide Exchange Factor2
GF12 5     Son Of Sevenless Homolog 12

External Ids:    HGNC: 111871   Entrez Gene: 66542   Ensembl: ENSG000001159047   OMIM: 1825305   UniProtKB: Q078893   

Export aliases for SOS1 gene to outside databases

Previous GC identifers: GC02M039177 GC02M039359 GC02M039187 GC02M039124 GC02M039066 GC02M038947


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 gingivitis, and fibromatosis, and among its related super-pathways are Development HGF signaling pathway and IL-9 Signaling Pathways. GO annotations related to this gene include protein heterodimerization activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGPS2.

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
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)

summary for SOS1 Gene:
MET (Mesenchymal epithelial transition factor), also known as hepatocyte growth factor receptor (HGFR) is a
proto-oncogenic receptor tyrosine kinase. The endogenous ligand for MET is hepatocyte growth factor/scatter
factor (HGF), a disulfide-linked heterodimeric molecule produced predominantly by mesenchymal cells. In the
adult, MET expression is limited to stem and progenitor cells and is necessary for wound healing and
hepatocyte regeneration. In the embryo, MET receptors are expressed on cells of epithelial origin. They are
essential for invasive growth and mediate epithelial-mesenchymal transition (EMT). Abberant activation of
the HGF/MET pathway leads to a variety of cancers. MET mutation is associated with a poor prognosis as it
can trigger tumor growth, angiogenesis and metastasis.

Gene Wiki entry for SOS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOS1 gene promoter:
         USF1   GATA-3   Tal-1beta   NF-kappaB   GATA-1   GATA-2   USF-1   NF-kappaB1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SOS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p22.1   HGNC cytogenetic band: 2p21

SOS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M039208:  view genomic region     (about GC identifiers)

Start:
39,208,537 bp from pter      End:
39,351,486 bp from pter
Size:
142,950 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889 (See protein sequence)
Recommended Name: Son of sevenless homolog 1  
Size: 1333 amino acids; 152464 Da
Subunit: 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
6/13 PDB 3D structures from and Proteopedia for SOS1 (see all 13):
1AWE (3D)        1BKD (3D)        1DBH (3D)        1NVU (3D)        1NVV (3D)        1NVW (3D)    
Secondary accessions: A8K2G3

Explore the universe of human proteins at neXtProt for SOS1: NX_Q07889

Explore proteomics data for SOS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q07889

  • SOS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SOS1 Protein Expression
    REFSEQ proteins: NP_005624.2  
    ENSEMBL proteins: 
     ENSP00000387784   ENSP00000378479   ENSP00000393899   ENSP00000384675   ENSP00000399992  
    Reactome Protein details: Q07889
    Human Recombinant Protein Products for SOS1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SOS1
    GenScript Custom Purified and Recombinant Proteins Services for SOS1
    Novus Biologicals SOS1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOS1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    SOS1 for ontologies           About GeneDecksing



    SOS1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOS1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for SOS1 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SOS1
    GenScript Custom Superior Antibodies Services for SOS1
    Novus Biologicals SOS1 Antibodies
    Abcam antibodies for SOS1
    Cloud-Clone Corp. Antibodies for SOS1 
    ThermoFisher Antibodies for SOS1
    LSBio Antibodies in human, mouse, rat for SOS1 

    Assay Products for SOS1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SOS1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SOS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOS1 
    Cloud-Clone Corp. CLIAs for SOS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    5/11 InterPro protein domains (see all 11):
     IPR008937 Ras_GEF
     IPR000219 DH-domain
     IPR007125 Histone_core_D
     IPR015759 Sos
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q07889

    ProtoNet protein and cluster: Q07889

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-GEF domain


    SOS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOS1_HUMAN, Q07889
    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)

         Genatlas biochemistry entry for SOS1:
    Drosophila son of sevenless homolog 1, regulator of Ras

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005085guanyl-nucleotide exchange factor activity ----
    GO:0005088Ras guanyl-nucleotide exchange factor activity TAS--
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005100Rho GTPase activator activity TAS9790532
         
    SOS1 for ontologies           About GeneDecksing


    Phenotypes:
         15/16 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Sos1) (see all 16):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  muscle  nervous system  no phenotypic analysis  skeleton 

    SOS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sos1tm1Lowy for SOS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SOS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SOS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOS1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOS1
    8/133 QIAGEN miScript miRNA Assays for microRNAs that regulate SOS1 (see all 133):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4275 hsa-miR-200b hsa-miR-520b hsa-miR-374b*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SOS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SOS1
    Sirion Biotech Customized adenovirus for overexpression of SOS1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SOS1 (see all 7)
    OriGene ORF clones in mouse, rat for SOS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOS1 (NM_005633)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOS1
    Sirion Biotech Customized lentivirus for stable overexpression of SOS1 
                         Customized lentivirus expression plasmids for stable overexpression of SOS1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SOS1
    Search LifeMap BioReagents cell lines for SOS1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOS1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SOS1 About   (see all 146)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Development HGF signaling pathway
    Development HGF signaling pathway0.78
    Apoptosis and survival NGF signaling pathway0.36
    Development Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.36
    Development EGFR signaling via small GTPases0.44
    Signaling of Hepatocyte Growth Factor Receptor0.35
    Development PDGF signaling via MAPK cascades0.41
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)0.31
    2Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    IL-9 Signaling Pathways0.90
    IL-4 Signaling Pathways0.84
    IL-7 Signaling Pathways0.90
    Immune response IL-9 signaling pathway0.42
    IL-21 Signaling Pathways0.90
    IL-7 Signaling Pathway0.40
    Common Cytokine Receptor Gamma-Chain Family Signaling Pathways0.90
    Development Thrombopoietin-regulated cell processes0.38
    3Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    Development CNTF receptor signaling0.43
    Regulation of lipid metabolism Insulin signaling:generic cascades0.59
    Cell adhesion PLAU signaling0.35
    Transcription Receptor-mediated HIF regulation0.51
    Development Growth hormone signaling via PI3K/AKT and MAPK cascades0.34
    Translation Regulation activity of EIF20.47
    Insulin signaling pathway0.31
    4Immune response Fc epsilon RI pathway
    Immune response Fc epsilon RI pathway0.45
    Fc-epsilon receptor I signaling in mast cells0.33
    Immune response BCR pathway0.45
    Immune response CD16 signaling in NK cells0.32
    Fc epsilon RI signaling pathway0.40
    Immune response Role of DAP12 receptors in NK cells0.32
    Immune response IL-4 signaling pathway0.38
    Natural killer cell mediated cytotoxicity0.31
    5B cell receptor signaling pathway
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    TCR Signaling Pathway0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/75 EMD Millipore Pathways for SOS1 (see all 75)
        Chemotaxis CXCR4 signaling pathway
    Translation Translation regulation by Alpha-1 adrenergic receptors
    Development Activation of ERK by Alpha-1 adrenergic receptors
    Immune response CD16 signaling in NK cells
    Cytoskeleton remodeling FAK signaling

    5/10 R&D Systems Pathways for SOS1 (see all 10)
        IL-21 Signaling Pathways
    IL-2 Signaling Pathways
    IL-4 Signaling Pathways
    Adipocytokines & Insulin Signaling
    IL-7 Signaling Pathways

    5/74 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SOS1 (see all 74)
        Molecular Mechanisms of Cancer
    eIF2 Pathway
    JNK Pathway
    ITK and TCR Signaling
    ErbB Family Pathway

    1 Cell Signaling Technology (CST) Pathway for SOS1
        MAP Kinase Signaling

    5/78 GeneGo (Thomson Reuters) Pathways for SOS1 (see all 78)
        G-protein signaling H-RAS regulation pathway
    Development CNTF receptor signaling
    Development EGFR signaling pathway
    Immune response IL-9 signaling pathway
    Transcription PPAR Pathway

    5/55 BioSystems Pathways for SOS1 (see all 55)
        Focal Adhesion
    EGFR1 Signaling Pathway
    DNA damage response (only ATM dependent)
    Insulin Signaling
    ErbB signaling pathway

    5/77        Reactome Pathways for SOS1 (see all 77)
        SHC-related events
    EGFR Transactivation by Gastrin
    SHC-mediated signalling
    IRS-mediated signalling
    Signaling by PDGF

    1 PharmGKB Pathway for SOS1
        EGFR Inhibitor Pathway, Pharmacodynamics

    5/30         Kegg Pathways  (Kegg details for SOS1) (see all 30):
        MAPK signaling pathway
    ErbB signaling pathway
    Chemokine signaling pathway
    PI3K-Akt signaling pathway
    Dorso-ventral axis formation


    SOS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/294 Interacting proteins for SOS1 (Q078891, 2, 3 ENSP000003846754) via UniProtKB, MINT, STRING, and/or I2D (see all 294)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629931, 2, 3, ENSP000003390074EBI-297487,EBI-401755 MINT-7217714 MINT-1782504 MINT-7217692 MINT-7217731 MINT-7217748 MINT-6170081 MINT-7135453 MINT-7135473 MINT-7217665 MINT-6173175 MINT-61539 MINT-6170118 MINT-6170102 MINT-65980 MINT-1782591 I2D: score=15 STRING: ENSP00000339007
    HIST1H3AP684313I2D: score=1 
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS8493579
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007265Ras protein signal transduction TAS--
    GO:0007411axon guidance TAS--

    SOS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SOS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SOS1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CrizotinibPotent c-MET/ALK inhibitor[877399-52-5]
    PF 04217903 mesylateHighly selective c-Met inhibitor[956906-93-7]
    PHA 665752Potent and selective MET inhibitor[477575-56-7]
    SU 11274Selective inhibitor of MET kinase activity[658084-23-2]

    1 HMDB Compound for SOS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    6 Novoseek inferred chemical compound relationships for SOS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 64.1 18 15039778 (3), 7525306 (1), 10026169 (1), 7566970 (1) (see all 12)
    menadione 35.1 1 12678906 (1)
    phosphatidylinositol 34.1 2 9837978 (1), 7896837 (1)
    gtp 17.5 1 7829473 (1)
    serine 4.62 1 19206169 (1)
    lipid 0 1 12734206 (1)

    Search CenterWatch for drugs/clinical trials and news about SOS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SOS1 gene: 
    NM_005633.3  

    Unigene Clusters for SOS1:

    Son of sevenless homolog 1 (Drosophila)
    Hs.709893  [show with all ESTs], Hs.732497  [show with all ESTs]
    Unigene Representative Sequences: NM_005633, AL833457
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426016(uc002rrj.4 uc002rrk.4) ENST00000395038(uc002rrl.3 uc010ynr.1)
    ENST00000469581 ENST00000474390 ENST00000472480 ENST00000461545 ENST00000451331
    ENST00000402219 ENST00000428721
    miRNA
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    8/133 QIAGEN miScript miRNA Assays for microRNAs that regulate SOS1 (see all 133):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4275 hsa-miR-200b hsa-miR-520b hsa-miR-374b*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SOS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOS1
    Clone
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    OriGene clones in human, mouse for SOS1 (see all 7)
    OriGene ORF clones in mouse, rat for SOS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOS1 (NM_005633)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOS1
    Sirion Biotech Customized lentivirus for stable overexpression of SOS1 
                         Customized lentivirus expression plasmids for stable overexpression of SOS1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SOS1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOS1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOS1

    Additional mRNA sequence: AL833457.1 

    12 DOTS entries:

    DT.454873  DT.109794  DT.91943801  DT.95259469  DT.99946130  DT.454640  DT.91690170  DT.100722186 
    DT.109801  DT.121002271  DT.210736  DT.91854384 

    24/136 AceView cDNA sequences (see all 136):

    BP361365 AA809729 BF002792 AA814581 AI080541 AW340599 BF448469 AI274985 
    AI635551 BF222581 AI129957 L13857 AA713949 BM727902 NM_005633 F05114 
    AU129044 BX497564 AA813540 BG535767 BF057256 CA390299 AA574131 BU728840 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SOS1    About this scheme

    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:                        


    ECgene alternative splicing isoforms for SOS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SOS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCATAGGTA
    SOS1 Expression
    About this image


    See SOS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOS1

    SOURCE GeneReport for Unigene clusters: Hs.709893 Hs.732497

    UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
    Tissue specificity: Expressed in gingival tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including SOS1: 
              Insulin Signaling Pathway in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Focal Adhesions in human mouse rat
              Gap Junctions in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for SOS1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sos11 , 5 son of sevenless homolog 1 (Drosophila)1, 5 91.1(n)1
    97.88(a)1
      17 (50.67 cM)5
    206621  NM_009231.21  NP_033257.21 
     803937525 
    chicken
    (Gallus gallus)
    Aves LOC4311921 son of sevenless homolog 1-like 83.26(n)
    92.3(a)
      431192  XM_003640931.1  XP_003640979.1 
    lizard
    (Anolis carolinensis)
    Reptilia SOS16
    RAPGEF16
    Uncharacterized protein
    89(a)
    8(a)
    1 ↔ 1
    possible ortholog
    1(253874067-253922378)
    GL343812.1(1439-4616)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ083866.12   -- 79.91(n)    BJ083866.1 
    zebrafish
    (Danio rerio)
    Actinopterygii --
    sos16
    son of sevenless homolog 1 (Drosophila)
    89(a)
    82(a)
    possible ortholog
    1 ↔ 1
    11(46278941-46283827)
    11(45929958-46264009)
    fruit fly
    (Drosophila melanogaster)
    Insecta Sos1 , 3 RAS protein signal transduction RAS
    guanyl-nucleotide more3
    Son of sevenless1
    50(a)3
    50.45(n)1
    47.68(a)1
      347901  NM_057249.41  NP_476597.21 
    worm
    (Caenorhabditis elegans)
    Secernentea sos-11 , 3 Protein SOS-11 31(a)3
    46.65(n)1
    37.84(a)1
      V(4518409-4549084)3
    1788461  NM_071834.31  NP_504235.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC256
    Membrane bound guanine nucleotide exchange factor ...
    12(a)
    1 → many
    XII(752224-756993)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOS1 gene
    RALGPS22  RAPGEF12  RASGRF12  RGL22  SOS22  RASGRF22  RGL32  RALGDS2  
    RALGPS12  RGL42  RGL12  
    2 SIMAP similar genes for SOS1 using alignment to 7 protein entries:     SOS1_HUMAN (see all proteins):
    SOS2    DKFZp781H1715

    SOS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3019 SNPs in SOS1 are shown (see all 3019)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0304284
    Noonan syndrome 4 (NS4)4--see VAR_0304282 W R mis40--------
    VAR_0660474
    Noonan syndrome 4 (NS4)4--see VAR_0660472 T K mis40--------
    VAR_0660444
    Noonan syndrome 4 (NS4)4--see VAR_0660442 P R mis40--------
    VAR_0304324
    Noonan syndrome 4 (NS4)4--see VAR_0304322 S R mis40--------
    VAR_0304404
    Noonan syndrome 4 (NS4)4--see VAR_0304402 I F mis40--------
    VAR_0660424
    Noonan syndrome 4 (NS4)4--see VAR_0660422 I T mis40--------
    VAR_0660484
    Noonan syndrome 4 (NS4)4--see VAR_0660482 R M mis40--------
    VAR_0304384
    Noonan syndrome 4 (NS4)4--see VAR_0304382 Y H mis40--------
    VAR_0660454
    Noonan syndrome 4 (NS4)4--see VAR_0660452 G R mis40--------
    VAR_0304234
    Noonan syndrome 4 (NS4)4--see VAR_0304232 E K mis40--------

    HapMap Linkage Disequilibrium report for SOS1 (39208537 - 39351486 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SOS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1618069CNV Insertion17803354
    esv1269226CNV Insertion17803354
    esv273433CNV Insertion20981092
    esv2552919CNV Insertion19546169
    esv271949CNV Insertion20981092
    nsv873885CNV Loss21882294
    nsv873884CNV Loss21882294


    Human Gene Mutation Database (HGMD): SOS1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SOS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 182530   
    OMIM disorders: 135300  610733  
    UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Noonan syndrome 4 (NS4) [MIM:610733]: A syndrome characterized by facial dysmorphic features such as
    hypertelorism, a downward eyeslant and low-set posteriorly rotated ears. Other features can include short
    stature, a short neck with webbing or redundancy of skin, cardiac anomalies, deafness, motor delay and variable
    intellectual deficits. Some patients with Noonan syndrome type 1 develop multiple giant cell lesions of the jaw
    or other bony or soft tissues, which are classified as pigmented villomoduolar synovitis (PVNS) when occurring in
    the jaw or joints. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/51 diseases for SOS1 (see all 51):    About MalaCards
    gingivitis    fibromatosis    noonan-like/multiple giant cell lesion syndrome    pulmonary valve disease
    noonan syndrome 4    gingival fibromatosis, 1    fibromatosis, gingival    noonan syndrome
    sos1-related noonan syndrome    pulmonary valve stenosis    cardiofaciocutaneous syndrome    leopard syndrome
    costello syndrome    ascariasis    trichuriasis    juvenile myelomonocytic leukemia
    hepatic encephalopathy    short stature    gingival overgrowth    pilocytic astrocytoma

    6 diseases from the University of Copenhagen DISEASES database for SOS1:
    Noonan syndrome     Hepatitis C     Hepatitis     Pulmonary valve stenosis
    LEOPARD syndrome     Costello syndrome

    SOS1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for SOS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    noonan syndrome 93.3 21 17143285 (4), 18394382 (3), 17143282 (3), 19953625 (2) (see all 12)
    fibromatosis, gingival, hereditary 84 7 16098013 (3), 17510059 (2), 10507724 (1), 17062749 (1)
    cfc syndrome 77.8 1 18651097 (3), 20052757 (1)
    short stature 77.2 3 19407499 (1), 20461756 (1), 18456719 (1)
    heart defects congenital 60.9 2 20461756 (1), 18456719 (1)
    tumors 0 8 19953625 (3), 19724911 (1), 20461756 (1)
    cancer 0 5 18064648 (3), 18778683 (1), 20461756 (1)

    GeneTests: SOS1
    GeneReviews: SOS1
    Genetic Association Database (GAD): SOS1
    Human Genome Epidemiology (HuGE) Navigator: SOS1 (18 documents)

    Export disorders for SOS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SOS1 gene, integrated from 9 sources (see all 244):
    (articles sorted by number of sources associating them with SOS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PubMed id 19020799)1, 2, 4 Ko J.M....Yoo H.W. (2008)
    2. Tumor spectrum in children with Noonan syndrome and S OS1 or RAF1 mutations. (PubMed id 19953625)1, 2, 9 Denayer E....Legius E. (2010)
    3. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PubMed id 17143282)1, 2, 9 Tartaglia M.... Gelb B.D. (2007)
    4. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PubMed id 17143285)1, 2, 9 Roberts A.E....Kucherlapati R.S. (2007)
    5. Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. (PubMed id 8276400)1, 3, 9 Webb G.C....Bowtell D.D. (1993)
    6. Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. (PubMed id 8493579)1, 2, 9 Chardin P....Bar-Sagi D. (1993)
    7. Effects of germline mutations in the Ras/MAPK signali ng pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndr ome. (PubMed id 20186801)1, 4, 9 Pierpont E.I....Seidenberg M.S. (2010)
    8. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (PubMed id 19206169)1, 4, 9 Sarkozy A.... Tartaglia M. (2009)
    9. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. (PubMed id 19133693)1, 4, 9 Cesarini L....Zampino G. (2009)
    10. Identification of Grb4/Nckbeta, a src homology 2 and 3 domain-containing adapter protein having similar binding and biological properties to Nck. (PubMed id 10026169)1, 2, 9 Braverman L.E. and Quilliam L.A. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6654 HGNC: 11187 AceView: SOS1 Ensembl:ENSG00000115904 euGenes: HUgn6654
    ECgene: SOS1 Kegg: 6654 H-InvDB: SOS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SOS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SOS1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOS1
    Wikipedia http://en.wikipedia.org/wiki/Son_of_Sevenless

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SOS1 gene:
    Search GeneIP for patents involving SOS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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