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FLASH GENE
Symbol SOS1 contributors: mct - updated : 28-04-2015
HGNC name son of sevenless homolog 1 (Drosophila)
HGNC id 11187
Corresponding disease
GINGF gingival fibromatosis
NS4 Noonan syndrome 4
Location 2p22.1      Physical location : 39.208.691 - 39.347.604
Synonym name
  • alternate SOS1
  • guanine nucleotide exchange factor
  • RAS guanine nucleotide-exchange factor (RAS-GEF)
  • Synonym symbol(s) GF1, HGF, GGF1, SOS
    DNA
    TYPE functioning gene
    STRUCTURE 138.91 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    CRIM1 2p21 cysteine-rich motor neuron 1 FEZ2 2p21 fasciculation and elongation protein zeta 2 (zygin II) VIT 2p22-p21 vitrin STRN 2p22-p21 striatin, calmodulin binding protein KIAA1414 2p22.3 KIAA1414 protein FLJ38348 2p22.3 hypothetical protein FLJ38348 PRKR 2p22-p21 protein kinase, interferon-inducible double stranded RNA dependent LOC391365 2 similar to sulfotransferase CBF2 2p23.1 similar to sulfotransferase PRO1853 2p22.3 hypothetical protein PRO1853 PRKCN 2p21 protein kinase C, nu QPCT 2p22.3 glutaminyl-peptide cyclotransferase (glutaminyl cyclase) CDC42EP3 2p21 CDC42 effector protein (Rho GTPase binding) 3 LOC344382 2p22.3 similar to UNR-interacting protein (WD-40 repeat protein PT-WD) (MAP activator with WD repeats) FLJ32954 2p22.3 hypothetical protein FLJ32954 CYP1B1 2p21 cytochrome P450, family 1, subfamily B, polypeptide 1 MGC34824 2p22.3 hypothetical protein MGC34824 LOC391366 2 similar to ribosomal protein L7 LOC391367 2 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) ARL6IP2 2p22.3 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC388940 2 LOC388940 LOC220717 2p22.3 similar to BLOCK 23 LOC92906 2p22.3 hypothetical protein BC008217 LOC130589 SFRS7 2p22-p21 splicing factor, arginine/serine-rich 7, 35kDa GEMIN6 2p22.3 gem (nuclear organelle) associated protein 6 DHX57 2p22.3 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 ASSP2 6q14.3-q15 argininosuccinate synthetase pseudogene 2 LOC387626 2 hypothetical gene supported by NM_144995 MOPT  protein containing single MORN motif in testis SOS1 2p22-p21 son of sevenless homolog 1 (Drosophila) LOC344387 2p22.3 similar to cyclin-dependent kinase-like 1 (CDC2-related kinase) MAP4K3 2p22.2 mitogen-activated protein kinase kinase kinase kinase 3 MGC33926 2p22.2 hypothetical protein MGC33926 C2orf8 2p22-p21 chromosome 2 open reading frame 8 LOC391368 2 similar to Zinc finger protein 19 (Zinc finger protein KOX12) SLC8A1 2p23-p22 solute carrier family 8 (sodium/calcium exchanger), member 1 LOC388941 2 similar to hypothetical protein (L1H 3 region) - human LOC391369 2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 8331 - 1333 - 2007 17586837
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthgingiva  highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuteruscervix highly
     female systembreastmammary gland highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one N-terminal RAS GEF domain (RAS exchanger motif REM), a helical PH-REM linker motif, and a histone folds (HF) domain with a basic surface that binds membrane phospholipids, and membrane recognition by the HF domain plays a functional role in primitive endoderm (PrE) specification
  • one DBL-homology domain (DH)
  • one PH domain
  • a CDC25 and polyproline domains
  • GRB2 binding sites, inside the C-terminal region responsible for regulation of activity
  • HOMOLOGY
    interspecies homolog to Drosophila son of sevenless,1
    Homologene
    FAMILY
    CATEGORY regulatory , protooncogene , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,nucleosome
    basic FUNCTION
  • GDP-GTP exchange factor
  • promoting the exchange of RAS-bound GDP by GTP
  • Ras nucleotide exchange-factor promoting nucleotide exchange and thus Ras activation, leading to Erk and Jnk activation alone or in association with GRB2
  • Rac1 activation,causing Jnk activation alone in complex with Eps8 and E3b1 ,
  • not being a significant oncogene in most cancers
  • have a surprising negative role for ABL kinases in CRK transformation
  • was required for pre-T-cell receptor (pre-TCR)- but not TCR-stimulated developmental signals
  • is uniquely positioned to affect signal transduction early in thymocyte development
  • multi-domain protein that plays a major role in cell growth and differentiation through its Ras-specific guanine nucleotide exchange domain whose complex regulation involves intra-molecular, inter-domain rearrangements
  • is a dual guanine nucleotide exchange factor (GEF) that activates the guanosine triphosphatases RAC1 and RAS, which mediate signaling initiated by peptide growth factors
  • RASGRP1 and GRB2/SOS1 are insulators of signals that lead to RAS activation induced by different stimuli, rather than cooperating downstream of the TCRA
  • SOS1 and its adaptor GRB2 are multidomain proteins that couple fibroblast growth factor (FGF) signaling to activation of the Ras-Erk pathway during development and drive embryonic stem cells toward the primitive endoderm (PrE) lineage
  • RASGRP1 and SOS1 are RAS-specific nucleotide exchange factors that have distinct roles in lymphocyte development
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text control of cell proliferation
    PATHWAY
    metabolism
    signaling signal transduction
  • is a functional component of the pathway connecting EGFR to NFKB1 activation
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GRB2
  • interacts with phosphorylated LAT2
  • SH3PXD2A binding partner
  • in addition to its GEF activity, SOS1 acted as a scaffold to nucleate oligomerization of the T cell adaptor protein LAT (linker for activation of T cells)
  • scaffold function of SOS1 depended on its ability to bind to the adaptor protein GRB2
  • regulates sustained TCR-mediated Erk activation
  • physically associates with SOS1 and thereby inhibits the GEF activity of SOS1 on RAS, which prevents the epidermal growth factor (EGF)-induced activation of the RAS–ERK1/2 pathway
  • RASGRP1 creates a negative feedback loop that limits proliferative EGFR-SOS1-RAS signals in colorectal carcinoma cells
  • cell & other
    REGULATION
    repressed by GRB2 (mediate negative regulation of the intrinsic Ras guanine-nucleotide exchange activity)
    ASSOCIATED DISORDERS
    corresponding disease(s) GINGF , NS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation   --other  
    SOS1p.R497Q variant modifier
    constitutional     --other  
    dysfunction (expression) of the FGFR1, SOS1 and RAF1 genes is involved in the development of unilateral or bilateral cryptorchidism
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    potential candidate biomarker and molecular therapeutic target in prostate cancer
    ANIMAL & CELL MODELS