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

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: mouse all
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Genomic context

Location:: 2p22.1

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (38981549..39124868, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (38990066..39133839, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (39208690..39352009, complement)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNMT1/miR-152-3p/SOS1 signaling axis promotes self-renewal and tumor growth of cancer stem-like cells derived from non-small cell lung cancer.
Title: DNMT1/miR-152-3p/SOS1 signaling axis promotes self-renewal and tumor growth of cancer stem-like cells derived from non-small cell lung cancer.
SOS1 and KSR1 modulate MEK inhibitor responsiveness to target resistant cell populations based on PI3K and KRAS mutation status.
Title: SOS1 and KSR1 modulate MEK inhibitor responsiveness to target resistant cell populations based on PI3K and KRAS mutation status.
Translational relevance of SOS1 targeting for KRAS-mutant colorectal cancer.
Title: Translational relevance of SOS1 targeting for KRAS-mutant colorectal cancer.
Cardiac features of Noonan syndrome in Japanese patients.
Title: Cardiac features of Noonan syndrome in Japanese patients.
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.
SOS1 regulates HCC cell epithelial-mesenchymal transition via the PI3K/AKT/mTOR pathway.
Title: SOS1 regulates HCC cell epithelial-mesenchymal transition via the PI3K/AKT/mTOR pathway.
Knockdown of circRNA-Memo1 Reduces Hypoxia/Reoxygenation Injury in Human Brain Endothelial Cells Through miRNA-17-5p/SOS1 Axis.
Title: Knockdown of circRNA-Memo1 Reduces Hypoxia/Reoxygenation Injury in Human Brain Endothelial Cells Through miRNA-17-5p/SOS1 Axis.
miR-148b-3p, as a tumor suppressor, targets son of sevenless homolog 1 to regulate the malignant progression in human osteosarcoma.
Title: miR-148b-3p, as a tumor suppressor, targets son of sevenless homolog 1 to regulate the malignant progression in human osteosarcoma.
The intramolecular allostery of GRB2 governing its interaction with SOS1 is modulated by phosphotyrosine ligands.
Title: The intramolecular allostery of GRB2 governing its interaction with SOS1 is modulated by phosphotyrosine ligands.
Epigenetic and Posttranscriptional Modulation of SOS1 Can Promote Breast Cancer Metastasis through Obesity-Activated c-Met Signaling in African-American Women.
Title: Epigenetic and Posttranscriptional Modulation of SOS1 Can Promote Breast Cancer Metastasis through Obesity-Activated c-Met Signaling in African-American Women.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009Y37 (e-PCR)
- UniSTS:63772

RH69513 (e-PCR)
- UniSTS:1314

RH68727 (e-PCR)
- UniSTS:44838

RH36309 (e-PCR)
- UniSTS:561

D2S119 (e-PCR), detects polymorphism
- UniSTS:40506

WI-21651 (e-PCR)
- UniSTS:48442

G32992 (e-PCR)
- UniSTS:117569

D2S1788 (e-PCR)
- UniSTS:6210

D2S2328 (e-PCR), detects polymorphism
- UniSTS:32334

RH69415 (e-PCR)
- UniSTS:59731

D2S2186 (e-PCR), detects polymorphism
- UniSTS:47963

SHGC-37149 (e-PCR)
- UniSTS:40299

D2S1346 (e-PCR), detects polymorphism
- UniSTS:3704

RH48741 (e-PCR)
- UniSTS:71800

RH98865 (e-PCR)
- UniSTS:93054

G33055 (e-PCR)
- UniSTS:117631

D2S1348 (e-PCR)
- UniSTS:54913

D2S441 (e-PCR)
- UniSTS:71306

SGC31905 (e-PCR)
- UniSTS:62609

D2S1356 (e-PCR)
- UniSTS:15261

SGC34493 (e-PCR)
- UniSTS:47019

AI449023 (e-PCR)
- UniSTS:160701

D2S1690E (e-PCR)
- UniSTS:150718

RH98720 (e-PCR)
- UniSTS:89545

SHGC-31981 (e-PCR)
- UniSTS:40652

D2S235E (e-PCR)
- UniSTS:473061

WI-13618 (e-PCR)
- UniSTS:19175

PMC155645P1 (e-PCR)
- UniSTS:271343

A010A36 (e-PCR)
- UniSTS:32759

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	IDA Inferred from Direct Assay more info	PubMed
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
enables protein kinase binding	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 T cell activation	IDA Inferred from Direct Assay more info	PubMed
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 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 glutamatergic synapse	IEA Inferred from Electronic Annotation 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
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: gingival fibromatosis, hereditary, 1; guanine nucleotide exchange factor

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.

Genomic

NG_007530.1 RefSeqGene

Range

5001..143915

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_754

mRNA and Protein(s)

NM_001382394.1 → NP_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:1011 → 1312

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

smart00229
Location:590 → 734

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

smart00325
Location:197 → 382

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

cd00155
Location:769 → 1008

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:432 → 538

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

pfam00125
Location:56 → 162

Histone; Core histone H2A/H2B/H3/H4
NM_001382395.1 → NP_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:1018 → 1304

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

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

pfam00125
Location:63 → 169

Histone; Core histone H2A/H2B/H3/H4
NM_005633.4 → NP_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:1018 → 1319

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

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

pfam00125
Location:63 → 169

Histone; Core histone H2A/H2B/H3/H4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

38981549..39124868 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445581.1 → XP_047301537.1 son of sevenless homolog 1 isoform X1
XM_047445582.1 → XP_047301538.1 son of sevenless homolog 1 isoform X2
XM_011533064.3 → XP_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:961 → 1262

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

smart00229
Location:540 → 684

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

smart00325
Location:147 → 332

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

cd00155
Location:719 → 958

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:382 → 488

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

pfam00125
Location:6 → 112

Histone; Core histone H2A/H2B/H3/H4
XM_047445585.1 → XP_047301541.1 son of sevenless homolog 1 isoform X5

Related

ENSP00000509424.1, ENST00000685279.1
XM_047445586.1 → XP_047301542.1 son of sevenless homolog 1 isoform X6
XM_047445584.1 → XP_047301540.1 son of sevenless homolog 1 isoform X4

Related

ENSP00000510437.1, ENST00000691229.1
XM_047445583.1 → XP_047301539.1 son of sevenless homolog 1 isoform X3

Related

ENSP00000508626.1, ENST00000692089.1