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

Gene ID: 6654, updated on 7-Jun-2020

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
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

Genomic context

See SOS1 in Genome Data Viewer
Location:
2p22.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (38981549..39124868, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39208690..39347686, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 33 Neighboring gene uncharacterized LOC105374471 Neighboring gene RNA, 7SL, cytoplasmic 96, pseudogene Neighboring gene uncharacterized LOC375196 Neighboring gene RNA, U6 small nuclear 198, pseudogene Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 13 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1553 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1554

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
Gingival fibromatosis 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activator activity TAS
Traceable Author Statement
more info
PubMed 
Ras guanyl-nucleotide exchange factor activity EXP
Inferred from Experiment
more info
PubMed 
Ras guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
Rho guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity EXP
Inferred from Experiment
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
B cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
Ras protein signal transduction TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cardiac atrium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
eyelid development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
heart trabecula morphogenesis IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
midbrain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
pericardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
positive regulation of epidermal growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of pro-B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
vitellogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleosome IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
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)

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
  2. NM_001382395.1NP_001369324.1  son of sevenless homolog 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC019171, AC092672
  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
    Q07889
    Related
    ENSP00000384675.2, ENST00000402219.7
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011533064.2XP_011531366.1  son of sevenless homolog 1 isoform X3

    See identical proteins and their annotated locations for XP_011531366.1

    Conserved Domains (6) summary
    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
    pfam00169
    Location:388489
    PH; PH domain
    cl23907
    Location:40120
    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 ...
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