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    SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

    Gene ID: 6654, updated on 1-Mar-2024

    Summary

    Official Symbol
    SOS1provided by HGNC
    Official Full Name
    SOS Ras/Rac guanine nucleotide exchange factor 1provided by HGNC
    Primary source
    HGNC:HGNC:11187
    See related
    Ensembl:ENSG00000115904 MIM:182530; AllianceGenome:HGNC:11187
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GF1; HGF; NS4; GGF1; GINGF; SOS-1
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 10.4), ovary (RPKM 10.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SOS1 in Genome Data Viewer
    Location:
    2p22.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38981549..39124868, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38990066..39133839, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39208690..39352009, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 33 Neighboring gene uncharacterized LOC105374471 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:39170060-39171010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39174178-39174678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39174679-39175179 Neighboring gene RNA, 7SL, cytoplasmic 96, pseudogene Neighboring gene uncharacterized LOC375196 Neighboring gene MPRA-validated peak3669 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11383 Neighboring gene RNA, U6 small nuclear 198, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:39337207-39337706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15614 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15615 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1553 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39376789-39377290 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1554 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:39378016-39378184 Neighboring gene Sharpr-MPRA regulatory region 10874 Neighboring gene MPRA-validated peak3670 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:39446895-39447396 Neighboring gene cyclin dependent kinase like 4 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:39547717-39548636 Neighboring gene MPRA-validated peak3671 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:39591272-39591838 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:39591839-39592405 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:39592406-39592972 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:39596426-39596599 Neighboring gene RNA, U6 small nuclear 1341, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Fibromatosis, gingival, 1
    MedGen: C4551558 OMIM: 135300 GeneReviews: Not available
    Compare labs
    Noonan syndrome 4
    MedGen: C1853120 OMIM: 610733 GeneReviews: Noonan Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-03-30)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2012-03-30)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables epidermal growth factor receptor binding IEA
    Inferred from Electronic Annotation
    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 TAS
    Traceable Author Statement
    more info
     
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in B cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Schwann cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance TAS
    Traceable Author Statement
    more info
     
    involved_in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac atrium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in eyelid development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart trabecula morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukocyte migration TAS
    Traceable Author Statement
    more info
     
    involved_in midbrain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotrophin TRK receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pericardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of pro-B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in vitellogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of GTPase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    son of sevenless homolog 1
    Names
    gingival fibromatosis, hereditary, 1
    guanine nucleotide exchange factor

    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.

    Genomic

    1. NG_007530.1 RefSeqGene

      Range
      5001..143915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_754

    mRNA and Protein(s)

    1. NM_001382394.1NP_001369323.1  son of sevenless homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC019171, AC092672
      UniProtKB/TrEMBL
      Q53SF8
      Conserved Domains (6) summary
      PTZ00449
      Location:10111312
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      smart00229
      Location:590734
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      smart00325
      Location:197382
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00155
      Location:7691008
      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:432538
      PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain
      pfam00125
      Location:56162
      Histone; Core histone H2A/H2B/H3/H4
    2. NM_001382395.1NP_001369324.1  son of sevenless homolog 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC019171, AC092672
      Consensus CDS
      CCDS92739.1
      UniProtKB/TrEMBL
      A0A3G1LBG1, G5E9C8
      Related
      ENSP00000378479.2, ENST00000395038.6
      Conserved Domains (6) summary
      PTZ00449
      Location:10181304
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      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
      pfam00125
      Location:63169
      Histone; Core histone H2A/H2B/H3/H4
    3. NM_005633.4NP_005624.2  son of sevenless homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_005624.2

      Status: REVIEWED

      Source sequence(s)
      AC019171, AC092672
      Consensus CDS
      CCDS1802.1
      UniProtKB/Swiss-Prot
      A8K2G3, B4DXG2, Q07889
      UniProtKB/TrEMBL
      A0A3G1LBG1
      Related
      ENSP00000384675.2, ENST00000402219.8
      Conserved Domains (6) summary
      PTZ00449
      Location:10181319
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      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
      pfam00125
      Location:63169
      Histone; Core histone H2A/H2B/H3/H4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      38981549..39124868 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445581.1XP_047301537.1  son of sevenless homolog 1 isoform X1

      UniProtKB/TrEMBL
      Q53SF8
    2. XM_047445582.1XP_047301538.1  son of sevenless homolog 1 isoform X2

      UniProtKB/TrEMBL
      Q53SF8
    3. XM_011533064.3XP_011531366.1  son of sevenless homolog 1 isoform X2

      See identical proteins and their annotated locations for XP_011531366.1

      UniProtKB/TrEMBL
      Q53SF8
      Conserved Domains (6) summary
      PTZ00449
      Location:9611262
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      smart00229
      Location:540684
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      smart00325
      Location:147332
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00155
      Location:719958
      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:382488
      PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain
      pfam00125
      Location:6112
      Histone; Core histone H2A/H2B/H3/H4
    4. XM_047445585.1XP_047301541.1  son of sevenless homolog 1 isoform X5

      UniProtKB/TrEMBL
      Q59GG9
      Related
      ENSP00000509424.1, ENST00000685279.1
    5. XM_047445586.1XP_047301542.1  son of sevenless homolog 1 isoform X6

    6. XM_047445584.1XP_047301540.1  son of sevenless homolog 1 isoform X4

      UniProtKB/TrEMBL
      A0A8I5QJ77
      Related
      ENSP00000510437.1, ENST00000691229.1
    7. XM_047445583.1XP_047301539.1  son of sevenless homolog 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5QJ77
      Related
      ENSP00000508626.1, ENST00000692089.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      38990066..39133839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343521.1XP_054199496.1  son of sevenless homolog 1 isoform X1

      UniProtKB/TrEMBL
      Q53SF8
    2. XM_054343522.1XP_054199497.1  son of sevenless homolog 1 isoform X2

      UniProtKB/TrEMBL
      Q53SF8
    3. XM_054343525.1XP_054199500.1  son of sevenless homolog 1 isoform X5

      UniProtKB/TrEMBL
      Q59GG9
    4. XM_054343526.1XP_054199501.1  son of sevenless homolog 1 isoform X6

    5. XM_054343524.1XP_054199499.1  son of sevenless homolog 1 isoform X4

      UniProtKB/TrEMBL
      A0A8I5QJ77
    6. XM_054343523.1XP_054199498.1  son of sevenless homolog 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5QJ77