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    Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 20662, updated on 28-Oct-2024

    Summary

    Official Symbol
    Sos1provided by MGI
    Official Full Name
    SOS Ras/Rac guanine nucleotide exchange factor 1provided by MGI
    Primary source
    MGI:MGI:98354
    See related
    Ensembl:ENSMUSG00000024241 AllianceGenome:MGI:98354
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    9630010N06; 4430401P03Rik
    Summary
    Enables guanyl-nucleotide exchange factor activity and protein kinase binding activity. Involved in cell surface receptor signaling pathway and nervous system development. Acts upstream of or within several processes, including cell surface receptor protein tyrosine kinase signaling pathway; circulatory system development; and regulation of T cell activation. Predicted to be located in cytoplasm and neuronal cell body. Predicted to be part of GTPase complex. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; hemolymphoid system gland; and retina. Used to study Noonan syndrome 4. Human ortholog(s) of this gene implicated in Noonan syndrome; Noonan syndrome 4; atrial heart septal defect; gingival fibromatosis; and pulmonary valve stenosis. Orthologous to human SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 5.3), cerebellum adult (RPKM 5.1) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Sos1 in Genome Data Viewer
    Location:
    17 E3; 17 50.67 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (80701181..80787882, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (80393752..80480453, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7560 Neighboring gene Rho guanine nucleotide exchange factor 33 Neighboring gene MORN repeat containing 2 Neighboring gene STARR-seq mESC enhancer starr_43309 Neighboring gene STARR-seq mESC enhancer starr_43310 Neighboring gene STARR-seq mESC enhancer starr_43312 Neighboring gene predicted gene 10190 Neighboring gene STARR-seq mESC enhancer starr_43313 Neighboring gene STARR-positive B cell enhancer ABC_E8924 Neighboring gene STARR-positive B cell enhancer ABC_E2500 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E8925 Neighboring gene alkaline phosphatase, intestinal pseudogene Neighboring gene STARR-seq mESC enhancer starr_43318 Neighboring gene STARR-positive B cell enhancer ABC_E5633 Neighboring gene STARR-positive B cell enhancer ABC_E10973 Neighboring gene STARR-positive B cell enhancer ABC_E9172 Neighboring gene STARR-positive B cell enhancer ABC_E4229 Neighboring gene STARR-positive B cell enhancer ABC_E616 Neighboring gene cyclin dependent kinase like 4 Neighboring gene STARR-seq mESC enhancer starr_43322 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 3 Neighboring gene STARR-seq mESC enhancer starr_43326 Neighboring gene STARR-seq mESC enhancer starr_43329 Neighboring gene predicted gene 9959

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (2) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables epidermal growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables epidermal growth factor receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables guanyl-nucleotide exchange factor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables molecular condensate scaffold activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular condensate scaffold activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within B cell homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in B cell receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in ERBB2-ERBB3 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Ras protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in Schwann cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in T cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cardiac atrium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within eyelid development in camera-type eye IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within hair follicle development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart trabecula morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in insulin-like growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within lymphocyte homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within midbrain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neurotrophin TRK receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotrophin TRK receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within pericardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Ras protein signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of small GTPase mediated signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of T cell differentiation in thymus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of T cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of pro-B cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within small GTPase-mediated signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vitellogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GTPase complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    son of sevenless homolog 1
    Names
    guanine nucleotide releasing factor
    ras guanine exchange factor
    son-of-sevenless 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009231.2NP_033257.2  son of sevenless homolog 1

      See identical proteins and their annotated locations for NP_033257.2

      Status: VALIDATED

      Source sequence(s)
      AC161447, AK140310, CB521016
      Consensus CDS
      CCDS37704.1
      UniProtKB/Swiss-Prot
      Q62244, Q62245
      UniProtKB/TrEMBL
      Q2M4G6
      Related
      ENSMUSP00000067786.6, ENSMUST00000068714.7
      Conserved Domains (6) summary
      smart00229
      Location:597741
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      smart00325
      Location:204389
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00155
      Location:7761015
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cd01261
      Location:439545
      PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain
      pfam00169
      Location:445546
      PH; PH domain
      cl23907
      Location:97177
      H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      80701181..80787882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160425.1XP_036016318.1  son of sevenless homolog 1 isoform X1

      Conserved Domains (4) summary
      PTZ00449
      Location:606894
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      smart00229
      Location:186330
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:365604
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cd01261
      Location:28134
      PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain