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

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, Dec 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 5.3), cerebellum adult (RPKM 5.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Critical requirement of SOS1 RAS-GEF function for mitochondrial dynamics, metabolism, and redox homeostasis.
Title: Critical requirement of SOS1 RAS-GEF function for mitochondrial dynamics, metabolism, and redox homeostasis.
Critical requirement of SOS1 for tumor development and microenvironment modulation in KRAS[G12D]-driven lung adenocarcinoma.
Title: Critical requirement of SOS1 for tumor development and microenvironment modulation in KRAS(G12D)-driven lung adenocarcinoma.
PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1.
Title: PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1.
Son of sevenless 1 (SOS1), the RasGEF, interacts with ERalpha and STAT3 during embryo implantation.
Title: Son of sevenless 1 (SOS1), the RasGEF, interacts with ERα and STAT3 during embryo implantation.
Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
Title: Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
SOS2 Comes to the Fore: Differential Functionalities in Physiology and Pathology.
Title: SOS2 Comes to the Fore: Differential Functionalities in Physiology and Pathology.
Unique dependence on Sos1 in Kras (G12D) -induced leukemogenesis.
Title: Unique dependence on Sos1 in Kras (G12D) -induced leukemogenesis.
Sos1 disruption delayed the onset of tumor initiation, decreased tumor growth, and prevented malignant progression of papillomas in a DMBA (7,12-dimethylbenz[alpha]anthracene)/TPA (12-O-tetradecanoylphorbol-13-acetate)-induced skin carcinogenesis model.
Title: Differential Role of the RasGEFs Sos1 and Sos2 in Mouse Skin Homeostasis and Carcinogenesis.
a direct mechanistic link between Sos1 and control of intracellular oxidative stress, and demonstrate functional prevalence of Sos1 over Sos2 with regards to cellular proliferation and viability.
Title: Sos1 disruption impairs cellular proliferation and viability through an increase in mitochondrial oxidative stress in primary MEFs.
findings suggest that targeting the Src/Abl/Sos1/Rac pathway may represent a double-edged sword to control both cancer-invasive capacities and cancer-related inflammation.
Title: Sos1 Regulates Macrophage Podosome Assembly and Macrophage Invasive Capacity.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

18.MMHAP91FRF9.seq (e-PCR)
- UniSTS:123408

Sos1 (e-PCR), detects polymorphism
- UniSTS:469822

UniSTS:237713 (e-PCR)
- UniSTS:237713

16.MMHAP84FLF1.seq (e-PCR)
- UniSTS:123320

AI449023 (e-PCR)
- UniSTS:160701

D2S1690E (e-PCR)
- UniSTS:150718

BE692030 (e-PCR)
- UniSTS:209344

Z11574 (e-PCR)
- UniSTS:125910

D17Mit128 (e-PCR), detects polymorphism
- UniSTS:127959

D17Mit128.3 (e-PCR), detects polymorphism
- UniSTS:127960

PMC155645P1 (e-PCR)
- UniSTS:271343

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

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Preferred Names: son of sevenless homolog 1

Names: guanine nucleotide releasing factor; ras guanine exchange factor; son-of-sevenless 1

NCBI Reference Sequences (RefSeq)

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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)

NM_009231.2 → NP_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:597 → 741

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif

smart00325
Location:204 → 389

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd00155
Location:776 → 1015

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:439 → 545

PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain

pfam00169
Location:445 → 546

PH; PH domain

cl23907
Location:97 → 177

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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

80701181..80787882 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (4) summary

PTZ00449
Location:606 → 894

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

smart00229
Location:186 → 330

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif

cd00155
Location:365 → 604

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:28 → 134

PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain