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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SOS1 Gene

protein-coding GIFtS: 71
GCID: GC02M039208

son of sevenless homolog 1 (Drosophila)

(Previous names: gingival fibromatosis, hereditary, 1 )
(Previous symbol: GINGF)

Explore 54 diseases affiliated with
SOS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Son Of Sevenless Homolog 1 (Drosophila)¹ ²		SOS-1² ³
GF1¹ ² ⁵		NS4² ⁵
GINGF¹ ² ⁵		GGF1²
HGF¹ ² ⁵		Guanine Nucleotide Exchange Factor²
Gingival Fibromatosis, Hereditary, 1¹ ²		Son Of Sevenless Homolog 1²

External Ids:	HGNC: 11187¹	Entrez Gene: 6654²	Ensembl: ENSG00000115904⁷	OMIM: 182530⁵	UniProtKB: Q07889³

Export aliases for SOS1 gene to outside databases

Previous GC identifers: GC02M039177 GC02M039359 GC02M039187 GC02M039124 GC02M039066 GC02M038947

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SOS1:

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)

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889

Function: Promotes the exchange of Ras-bound GDP by GTP. Catalytic component of a trimeric complex that participates in

transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF)

activity (By similarity)

summary for SOS1:

MET (Mesenchymal epithelial transition factor), also known as hepatocyte growth factor receptor (HGFR) is a

proto-oncogenic receptor tyrosine kinase. The endogenous ligand for MET is hepatocyte growth factor/scatter

factor (HGF), a disulfide-linked heterodimeric molecule produced predominantly by mesenchymal cells. In the

adult, MET expression is limited to stem and progenitor cells and is necessary for wound healing and

hepatocyte regeneration. In the embryo, MET receptors are expressed on cells of epithelial origin. They are

essential for invasive growth and mediate epithelial-mesenchymal transition (EMT). Abberant activation of

the HGF/MET pathway leads to a variety of cancers. MET mutation is associated with a poor prognosis as it

can trigger tumor growth, angiogenesis and metastasis.

Gene Wiki entry for SOS1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SOS1 gene promoter:
USF1 GATA-3 Tal-1beta NF-kappaB GATA-1 GATA-2 USF-1 NF-kappaB1 ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SOS1 promoter sequence

Search SABiosciences Chromatin IP Primers for SOS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21 Ensembl cytogenetic band: 2p22.1 HGNC cytogenetic band: 2p21

SOS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOS1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M039208: view genomic region (about GC identifiers)

Start:	39,208,537 bp from pter	End:	39,351,486 bp from pter
Size:	142,950 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889 (See protein sequence)

Recommended Name: Son of sevenless homolog 1

Size: 1333 amino acids; 152464 Da

Subunit: Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts with GRB2. Forms a complex with

phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2. Interacts with NCK1 and NCK2

6/13 PDB 3D structures from and Proteopedia for SOS1 (see all 13):

1AWE (3D)

1BKD (3D)

1DBH (3D)

1NVU (3D)

1NVV (3D)

1NVW (3D)

Secondary accessions: A8K2G3

Explore the universe of human proteins at neXtProt for SOS1: NX_Q07889

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q07889

SOS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005624.2

ENSEMBL proteins:

ENSP00000387784 ENSP00000378479 ENSP00000393899 ENSP00000384675 ENSP00000399992

Reactome Protein details: Q07889
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for SOS1
	GenScript Custom Purified and Recombinant Proteins Services for SOS1
	Novus Biologicals SOS1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SOS1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	TAS	--

SOS1 for ontologies About GeneDecksing

SOS1 Antibody Products:

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	ThermoFisher Antibody for SOS1

Assay Products for SOS1:

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	GenScript Custom Assay Services for SOS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SOS1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SOS1 for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR008937 Ras_GEF

IPR000219 DH-domain

IPR007125 Histone_core_D

IPR015759 Sos

IPR001849 Pleckstrin_homology

Graphical View of Domain Structure for InterPro Entry Q07889

ProtoNet protein and cluster: Q07889

3 Blocks protein families:

IPB000219 DH domain

IPB001849 Pleckstrin-like

IPB001895 Guanine-nucleotide dissociation stimulator CDC25

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889

Similarity: Contains 1 DH (DBL-homology) domain

Similarity: Contains 1 N-terminal Ras-GEF domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 Ras-GEF domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889

Function: Promotes the exchange of Ras-bound GDP by GTP. Catalytic component of a trimeric complex that participates in

transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF)

activity (By similarity)

Genatlas biochemistry entry for SOS1:

Drosophila son of sevenless homolog 1, regulator of Ras

miRNA Products:		OriGene 3'-UTR Clone: SOS1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOS1
		8/133 QIAGEN miScript miRNA Assays for microRNAs that regulate SOS1 (see all 133):
		hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4275 hsa-miR-200b hsa-miR-520b hsa-miR-374b*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOS1 (see all 7) OriGene shRNA RFP: SOS1 OriGene siRNA: SOS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOS1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SOS1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: SOS1 (NM_005633)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SOS1
		Search LifeMap BioReagents cell lines for SOS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOS1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	--
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--
GO:0005100	Rho GTPase activator activity	TAS	9790532
GO:0005515	protein binding	IPI	--

SOS1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Sos1^tm1Lowy for SOS1
     15/16 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Sos1) (see all 16):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
growth/size	hematopoietic system	homeostasis/metabolism	immune system	integument
mortality/aging	muscle	nervous system	no phenotypic analysis	skeleton

SOS1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/149 super-pathways (see all 149) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development_CNTF receptor signaling

8/22 pathways (see all 22)
Development_CNTF receptor signaling	1.00	Development Growth hormone signaling via PI3K/AKT and MAPK cascades	0.34
Development CNTF receptor signaling	1.00	Translation _Regulation of EIF4F activity	0.32
Transcription Receptor-mediated HIF regulation	0.43	Translation Regulation activity of EIF4F	0.32
Transcription_Receptor-mediated HIF regulation	0.43	ErbB2/ErbB3 signaling events	0.31

Development HGF signaling pathway

8/15 pathways (see all 15)
Development HGF signaling pathway	1.00	Signaling of Hepatocyte Growth Factor Receptor	0.35
Development_HGF signaling pathway	0.78	Apoptosis and survival_NGF signaling pathway	0.25
Development_Neurotrophin family signaling	0.45	Apoptosis and survival NGF signaling pathway	0.25
Development Neurotrophin family signaling	0.45	Apoptosis and survival_Role of CDK5 in neuronal death and survival	0.24

IL-9 Signaling Pathways

8/13 pathways (see all 13)
IL-9 Signaling Pathways	1.00	Immune response_IL-9 signaling pathway	0.42
IL-21 Signaling Pathways	0.90	Immune response IL-9 signaling pathway	0.42
IL-7 Signaling Pathways	0.90	IL-7 Signaling Pathway	0.38
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways	0.90	Development_Thrombopoietin-regulated cell processes	0.36

Signaling by FGFR

8/12 pathways (see all 12)
Signaling by FGFR	1.00	DAP12 signaling	0.83
Downstream signaling of activated FGFR	0.92	Signaling by EGFR in Cancer	0.83
Signaling by FGFR in disease	0.91	DAP12 interactions	0.76
Signaling by ERBB2	0.89	Signaling by PDGF	0.72

SHC-mediated signalling

8/9 pathways (see all 9)
SHC-mediated signalling	1.00	GRB2 events in EGFR signaling	0.71
SHC-related events	0.88	EGFR Transactivation by Gastrin	0.26
SHC-related events triggered by IGF1R	0.83	Signaling by constitutively active EGFR	0.21
SHC1 events in EGFR signaling	0.76	EGFR-dependent Endothelin signaling events	0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

5/75 EMD Millipore Pathways for SOS1 (see all 75)

	Chemotaxis CXCR4 signaling pathway
	Translation Translation regulation by Alpha-1 adrenergic receptors
	Development Activation of ERK by Alpha-1 adrenergic receptors
	Immune response CD16 signaling in NK cells
	Cytoskeleton remodeling FAK signaling

5/9 R&D Systems Pathways for SOS1 (see all 9)

	IL-21 Signaling Pathways
	IL-2 Signaling Pathways
	IL-4 Signaling Pathways
	Adipocytokines & Insulin Signaling
	IL-7 Signaling Pathways

5/74 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SOS1 (see all 74)

	Molecular Mechanisms of Cancer
	eIF2 Pathway
	JNK Pathway
	ITK and TCR Signaling
	ErbB Family Pathway

1 Cell Signaling Technology (CST) Pathway for SOS1

MAP Kinase Signaling

5/78 GeneGo (Thomson Reuters) Pathways for SOS1 (see all 78)

	G-protein signaling H-RAS regulation pathway
	Development CNTF receptor signaling
	Development EGFR signaling pathway
	Immune response IL-9 signaling pathway
	Transcription PPAR Pathway

5/55 BioSystems Pathways for SOS1 (see all 55)

	Focal Adhesion
	ErbB signaling pathway
	DNA damage response (only ATM dependent)
	Integrin-mediated cell adhesion
	Oncostatin M Signaling Pathway

5/74 Reactome Pathways for SOS1 (see all 74)

	SHC-related events
	EGFR Transactivation by Gastrin
	SHC-mediated signalling
	IRS-mediated signalling
	Signaling by PDGF

1 PharmGKB Pathway for SOS1

EGFR Inhibitor Pathway, Pharmacodynamics

5/24 Kegg Pathways (Kegg details for SOS1) (see all 24):

	MAPK signaling pathway
	ErbB signaling pathway
	Chemokine signaling pathway
	Dorso-ventral axis formation
	Focal adhesion

SOS1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SOS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/288 Interacting proteins for SOS1 (Q07889^{1, 2, 3} ENSP00000384675⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 288)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GRB2	P62993¹^,²^,³, ENSP00000339007⁴	EBI-297487,EBI-401755 MINT-7217714 MINT-1782504 MINT-7217692 MINT-7217731 MINT-7217748 MINT-6170081 MINT-7135453 MINT-7135473 MINT-7217665 MINT-6173175 MINT-61539 MINT-6170118 MINT-6170102 MINT-65980 MINT-1782591 I2D: score=15 STRING: ENSP00000339007
HIST1H3A	P68431³	I2D: score=1
HIST1H3B	P68431³	I2D: score=1
HIST1H3C	P68431³	I2D: score=1
HIST1H3D	P68431³	I2D: score=1

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0007165	signal transduction	NAS	8493579
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0007265	Ras protein signal transduction	TAS	--

SOS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SOS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SOS1 available from Tocris Bioscience About this table

Compound	Action	CAS #
PHA 665752	Potent and selective MET inhibitor	[477575-56-7]
K 252a	Protein kinase inhibitor	[99533-80-9]

1 HMDB Compound for SOS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

6 Novoseek chemical compound relationships for SOS1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	64.1	18	15039778 (3), 7525306 (1), 10026169 (1), 7566970 (1) (see all 12)
menadione	35.1	1	12678906 (1)
phosphatidylinositol	34.1	2	9837978 (1), 7896837 (1)
gtp	17.5	1	7829473 (1)
serine	4.62	1	19206169 (1)
lipid	0	1	12734206 (1)

Search CenterWatch for drugs/clinical trials and news about SOS1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SOS1 gene:

NM_005633.3

Unigene Clusters for SOS1:

Son of sevenless homolog 1 (Drosophila)

Hs.709893 [show with all ESTs], Hs.732497 [show with all ESTs]

Unigene Representative Sequences: NM_005633, AL833457

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000426016(uc002rrj.4 uc002rrk.4) ENST00000395038(uc002rrl.3 uc010ynr.1)

ENST00000469581 ENST00000474390 ENST00000472480 ENST00000461545 ENST00000451331

ENST00000402219 ENST00000428721

miRNA Products:		OriGene 3'-UTR Clone: SOS1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOS1
		8/133 QIAGEN miScript miRNA Assays for microRNAs that regulate SOS1 (see all 133):
		hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4275 hsa-miR-200b hsa-miR-520b hsa-miR-374b*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: SOS1 (NM_005633)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOS1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SOS1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOS1

Additional cDNA sequence: AL833457.1

12 DOTS entries:

DT.454873 DT.109794 DT.91943801 DT.95259469 DT.99946130 DT.454640 DT.91690170 DT.100722186

DT.109801 DT.121002271 DT.210736 DT.91854384

24/136 AceView cDNA sequences (see all 136):

BU728840 BE271423 BG535767 CA390299 L13857 AI274985 BF002792 F05114

BM727902 AW340599 AU129044 AI635551 AA713949 AA574131 BF448469 BP361365

AA813540 AA814581 AI129957 BF222581 AI080541 BX497564 NM_005633 AA809729

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for SOS1 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20a	·	20b	·	20c	^
SP1:											-														-																						-
SP2:																									-																						-
SP3:
SP4:

ExUns:	21	^	22	^	23a	·	23b
SP1:
SP2:	-
SP3:
SP4:

ECgene alternative splicing isoforms for SOS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SOS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCATAGGTA

About this image

SOS1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

White adipocyte-like cells (Differentiation of ...)

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SOS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SOS1

SOURCE GeneReport for Unigene clusters: Hs.709893 Hs.732497

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889

Tissue specificity: Expressed in gingival tissues

SABiosciences Expression via Pathway-Focused PCR Arrays including SOS1:

Insulin Signaling Pathway in human mouse rat

PI3K-AKT Signaling Pathway in human mouse rat

Focal Adhesions in human mouse rat

Gap Junctions in human mouse rat

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOS1

In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOS1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for SOS1 gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC431192¹	son of sevenless homolog 1-like	83.26(n) 92.3(a)		431192 XM_003640931.1 XP_003640979.1
lizard (Anolis carolinensis)	Reptilia	SOS1⁶	--	89(a)	1 ↔ 1	1(253874067-253922378)
African clawed frog (Xenopus laevis)	Amphibia	BJ083866.1²	--	79.91(n)		BJ083866.1
zebrafish (Danio rerio)	Actinopterygii	CABZ01072473.1⁶ sos1⁶	son of sevenless homolog 1 (Drosophila)	86(a) 82(a)	possible ortholog 1 ↔ 1	11(46278941-46283827) 11(45929958-46264009)
fruit fly (Drosophila melanogaster)	Insecta	Sos^{1 , 3}	RAS protein signal transduction RAS guanyl-nucleotide more³ Son of sevenless¹	50(a)³ 50.45(n)¹ 47.68(a)¹		34790¹ NM_057249.4¹ NP_476597.2¹
worm (Caenorhabditis elegans)	Secernentea	sos-1^{1 , 3}	Protein SOS-1¹	31(a)³ 46.65(n)¹ 37.84(a)¹		V(4518409-4549084)³ 178846¹ NM_071834.3¹ NP_504235.2¹

ENSEMBL Gene Tree for SOS1 (if available)
TreeFam Gene Tree for SOS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SOS1 gene

RALGPS2² RAPGEF1² RASGRF1² RGL2² SOS2² RASGRF2² RGL3² RALGPS1²

RALGDS² RGL1² RGL4²

2 SIMAP similar genes for SOS1 using alignment to 7 protein entries: SOS1_HUMAN (see all proteins):

SOS2 DKFZp781H1715

SOS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72799430^1,2	C,	--	38947679(+)	`AGTCCA/GATGTG`	1	--	ut3¹		0	--	--	--	--
rs11124658^1,2	C,F,A,H,	--	38947680(+)	`GTCCAA/GTNNNN`	1	--	ut3¹		3		NA	218
rs3755180^1,2	H	--	38947780(-)	`TCTGTC/TGACTG`	1	--	ut3¹		1		NS	120
rs78411167^1,2		--	38947953(+)	`AAAAGA/TTAGTA`	1	--	ut3¹		0	--	--	--	--
rs79270739^1,2	C,F,	--	38949675(+)	`AATTAT/CTAAAG`	1	--	ut3¹		1		NA	120
rs1059313^1,2	C,F,A,	--	38950600(-)	`CTGTTC/AATCTA`	1	--	ut3¹		5		MN WA NA CSA	191
rs12329307^1,2	C,F,H,	--	38952172(+)	`gcatcC/Tcaagc`	1	--	int¹		8		NS EA WA NA	646
rs55813409^1,2	C,	--	38952720(+)	`TTATAA/GTGTGC`	1	--	int¹		0	--	--	--	--
rs55987416^1,2	C,	--	38952842(+)	`GCCTTA/GGGTTT`	1	--	int¹		0	--	--	--	--
rs74475556^1,2	F,	--	38953945(+)	`TTTATG/AGTAAC`	1	--	int¹		1		EA	120

HapMap Linkage Disequilibrium report for SOS1 (39208537 - 39351486 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SOS1
1 CNV: 89597
1 Indel: 97821
Human Gene Mutation Database (HGMD): SOS1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SOS1 for disorders           About GeneDecksing

OMIM gene information: 182530
OMIM disorders: 135300  610733
UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889

Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:135300]; also known as GINGF1. Gingival

fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous

enlargement of maxillary and mandibular keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant

trait, although sporadic cases are common

Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:610733]. NS4 is an autosomal dominant

disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor

delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated

incidence of 1 in 1000-2500 live births. Rarely, NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1

mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common

20/54 diseases for SOS1 (see all 54): About MalaCards

fibromatosis gingivitis gingival fibromatosis, 1 noonan syndrome

noonan-like/multiple giant cell lesion syndrome fibromatosis, gingival wiskott-aldrich syndrome short stature

noonan syndrome 4 pulmonary valve stenosis juvenile myelomonocytic leukemia myelomonocytic leukemia

gingival overgrowth cardiofaciocutaneous syndrome b-cell lymphomas pulmonary valve disease

costello syndrome leopard syndrome myeloid leukemia hypertrophic cardiomyopathy

6 diseases from the University of Copenhagen DISEASES database for SOS1:

Noonan syndrome Hepatitis C Hepatitis Pulmonary valve stenosis

LEOPARD syndrome Costello syndrome

7 Novoseek disease relationships for SOS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
noonan syndrome	93.3	21	17143285 (4), 18394382 (3), 17143282 (3), 19953625 (2) (see all 12)
fibromatosis, gingival, hereditary	84	7	16098013 (3), 17510059 (2), 10507724 (1), 17062749 (1)
cfc syndrome	77.8	1	18651097 (3), 20052757 (1)
short stature	77.2	3	19407499 (1), 20461756 (1), 18456719 (1)
heart defects congenital	60.9	2	20461756 (1), 18456719 (1)
tumors	0	8	19953625 (3), 19724911 (1), 20461756 (1)
cancer	0	5	18064648 (3), 18778683 (1), 20461756 (1)

GeneTests: SOS1

Noonan Syndrome

Genetic Association Database (GAD): SOS1
Human Genome Epidemiology (HuGE) Navigator: SOS1 (18 documents)

Export disorders for SOS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SOS1 gene, integrated from 9 sources (see all 235):
(articles sorted by number of sources associating them with SOS1)

Utopia: connect your pdf to the dynamic
world of online information

Tumor spectrum in children with Noonan syndrome and S OS1 or RAF1 mutations. (PubMed id 19953625)^{1, 2, 9} Denayer E....Legius E. (2010)
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PubMed id 17143282)^{1, 2, 9} Tartaglia M.... Gelb B.D. (2007)
Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PubMed id 17143285)^{1, 2, 9} Roberts A.E....Kucherlapati R.S. (2007)
Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. (PubMed id 8276400)^{1, 3, 9} Webb G.C....Bowtell D.D. (1993)
Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. (PubMed id 8493579)^{1, 2, 9} Chardin P....Bar-Sagi D. (1993)
Identification of Grb4/Nckbeta, a src homology 2 and 3 domain-containing adapter protein having similar binding and biological properties to Nck. (PubMed id 10026169)^{1, 2, 9} Braverman L.E. and Quilliam L.A. (1999)
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. (PubMed id 21387466)^{1, 2} Lepri F.... Tartaglia M. (2011)
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. (PubMed id 20673819)^{1, 2} Fabretto A....Zenker M. (2010)
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. (PubMed id 20683980)^{1, 2} Longoni M....Riva P. (2010)
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. (PubMed id 19438935)^{1, 2} Hanna N....Elsedfy H.H. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6654	HGNC: 11187	AceView: SOS1	Ensembl:ENSG00000115904	euGenes: HUgn6654
ECgene: SOS1	Kegg: 6654	H-InvDB: SOS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SOS1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SOS1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOS1
Wikipedia	http://en.wikipedia.org/wiki/Son_of_Sevenless

Intellectual Property for SOS1 gene
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Patent Information for SOS1 gene:
Search GeneIP for patents involving SOS1

GeneCards and IP:
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son of sevenless homolog 1 (Drosophila)

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SOS1 Gene

son of sevenless homolog 1 (Drosophila)

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