Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6654
Gene name Gene Name - the full gene name approved by the HGNC.
SOS Ras/Rac guanine nucleotide exchange factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOS1
Synonyms (NCBI Gene) Gene synonyms aliases
GF1, GGF1, GINGF, HGF, NS4, SOS-1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852812 G>T Pathogenic Coding sequence variant, missense variant
rs137852813 A>C,G Pathogenic Coding sequence variant, missense variant
rs137852814 T>A,C Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs138459502 G>A,C Uncertain-significance, likely-benign, likely-pathogenic Coding sequence variant, synonymous variant, missense variant
rs139290271 A>G Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046240 hsa-miR-23b-3p CLASH 23622248
MIRT437439 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 23817964
MIRT437439 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 23817964
MIRT437439 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 23817964
MIRT437439 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 23817964
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001782 Process B cell homeostasis IEA
GO:0001942 Process Hair follicle development IEA
GO:0002260 Process Lymphocyte homeostasis IEA
GO:0002931 Process Response to ischemia IEA
GO:0003007 Process Heart morphogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182530 11187 ENSG00000115904
Protein
UniProt ID Q07889
Protein name Son of sevenless homolog 1 (SOS-1)
Protein function Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3/ERK1 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that partici
PDB 1AWE , 1BKD , 1DBH , 1NVU , 1NVV , 1NVW , 1NVX , 1Q9C , 1XD2 , 1XD4 , 1XDV , 2II0 , 3KSY , 4NYI , 4NYJ , 4NYM , 4URU , 4URV , 4URW , 4URX , 4URY , 4URZ , 4US0 , 4US1 , 4US2 , 5OVD , 5OVE , 5OVF , 5OVG , 5OVH , 5OVI , 5WFO , 5WFP , 5WFQ , 5WFR , 6BVI , 6BVJ , 6BVK , 6BVL , 6BVM , 6CUO , 6CUP , 6CUR , 6D55 , 6D56 , 6D59 , 6D5E , 6D5G , 6D5H , 6D5J , 6D5L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00125 Histone 40 169 Core histone H2A/H2B/H3/H4 Domain
PF00621 RhoGEF 211 388 RhoGEF domain Domain
PF00169 PH 428 546 PH domain Domain
PF00618 RasGEF_N 600 717 RasGEF N-terminal motif Domain
PF00617 RasGEF 783 962 RasGEF domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in gingival tissues. {ECO:0000269|PubMed:11868160}.
Sequence
MQAQQLPYEFFSEENAPKWRGLLVPALKKVQGQVHPTLESNDDALQYVEELILQLLNMLC
QAQPRSASDVEERVQKSFPHPIDKWAIADAQSAIEKRKRRNPLSLPVEKIHPLLKEVLGY
KIDHQVSVYIVAVLEYISADILKLVGNYVRNIRHYEITKQDIKVAMCAD
KVLMDMFHQDV
EDINILSLTDEEPSTSGEQTYYDLVKAFMAEIRQYIRELNLIIKVFREPFVSNSKLFSAN
DVENIFSRIVDIHELSVKLLGHIEDTVEMTDEGSPHPLVGSCFEDLAEELAFDPYESYAR
DILRPGFHDRFLSQLSKPGAALYLQSIGEGFKEAVQYVLPRLLLAPVYHCLHYFELLKQL
EEKSEDQEDKECLKQAITALLNVQSGME
KICSKSLAKRRLSESACRFYSQQMKGKQLAIK
KMNEIQKNIDGWEGKDIGQCCNEFIMEGTLTRVGAKHERHIFLFDGLMICCKSNHGQPRL
PGASNAEYRLKEKFFMRKVQINDKDDTNEYKHAFEIILKDENSVIFSAKSAEEKNNWMAA
LISLQY
RSTLERMLDVTMLQEEKEEQMRLPSADVYRFAEPDSEENIIFEENMQPKAGIPI
IKAGTVIKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLIIERFEIPEPEPTEADR
IAIENGDQPLSAELKRFRKEYIQPVQLRVLNVCRHWVEHHFYDFERDAYLLQRMEEF
IGT
VRGKAMKKWVESITKIIQRKKIARDNGPGHNITFQSSPPTVEWHISRPGHIETFDLLTLH
PIEIARQLTLLESDLYRAVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIV
ETENLEERVAVVSRIIEILQVFQELNNFNGVLEVVSAMNSSPVYRLDHTFEQIPSRQKKI
LEEAHELSEDHYKKYLAKLRSINPPCVPFFGIYLTNILKTEEGNPEVLKRHGKELINFSK
RR
KVAEITGEIQQYQNQPYCLRVESDIKRFFENLNPMGNSMEKEFTDYLFNKSLEIEPRN
PKPLPRFPKKYSYPLKSPGVRPSNPRPGTMRHPTPLQQEPRKISYSRIPESETESTASAP
NSPRTPLTPPPASGASSTTDVCSVFDSDHSSPFHSSNDTVFIQVTLPHGPRSASVSSISL
TKGTDEVPVPPPVPPRRRPESAPAESSPSKIMSKHLDSPPAIPPRQPTSKAYSPRYSISD
RTSISDPPESPPLLPPREPVRTPDVFSSSPLHLQPPPLGKKSDHGNAFFPNSPSPFTPPP
PQTPSPHGTRRHLPSPPLTQEVDLHSIAGPPVPPRQSTSQHIPKLPPKTYKREHTHPSMH
RDGPPLLENAHSS
Sequence length 1333
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Chemokine signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Thermogenesis
Neurotrophin signaling pathway
Regulation of actin cytoskeleton
Insulin signaling pathway
GnRH signaling pathway
Estrogen signaling pathway
Prolactin signaling pathway
Relaxin signaling pathway
Growth hormone synthesis, secretion and action
Alcoholism
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Endometrial cancer
Glioma
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Choline metabolism in cancer
  SOS-mediated signalling
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
SHC1 events in ERBB4 signaling
Signaling by SCF-KIT
Regulation of KIT signaling
Signalling to RAS
GRB2 events in EGFR signaling
SHC1 events in EGFR signaling
Downstream signal transduction
NRAGE signals death through JNK
Rho GTPase cycle
GRB2 events in ERBB2 signaling
Tie2 Signaling
EGFR Transactivation by Gastrin
DAP12 signaling
SHC-related events triggered by IGF1R
Role of LAT2/NTAL/LAB on calcium mobilization
FCERI mediated MAPK activation
FCERI mediated Ca+2 mobilization
GRB2:SOS provides linkage to MAPK signaling for Integrins
NCAM signaling for neurite out-growth
G alpha (12/13) signalling events
Constitutive Signaling by EGFRvIII
SHC-mediated cascade:FGFR1
FRS-mediated FGFR1 signaling
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
Signaling by FGFR2 in disease
Signaling by FGFR4 in disease
Signaling by FGFR1 in disease
RAF/MAP kinase cascade
Signal attenuation
Insulin receptor signalling cascade
MET activates RAS signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants in cancer
RET signaling
Interleukin-15 signaling
Activated NTRK2 signals through FRS2 and FRS3
Interleukin receptor SHC signaling
FLT3 Signaling
Constitutive Signaling by Overexpressed ERBB2
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 ECD mutants
Signaling by ERBB2 TMD/JMD mutants
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fibromatosis Fibromatosis, gingival, 1 rs397517148, rs397517154, rs1553354396, rs727505093 N/A
Noonan Syndrome noonan syndrome, noonan syndrome 4, noonan syndrome 1, Noonan syndrome and Noonan-related syndrome, noonan syndrome 3 rs397517146, rs730881045, rs137852813, rs137852814, rs397517164, rs397517148, rs397517153, rs1057519963, rs727505381, rs397517150, rs1553362937, rs397517172, rs267607079, rs397517156, rs727504295
View all (15 more)
N/A
Hypotonia neonatal hypotonia rs397517172 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy N/A N/A ClinVar
Brugada Syndrome brugada syndrome N/A N/A ClinVar
Cardiofaciocutaneous Syndrome cardiofaciocutaneous syndrome N/A N/A GenCC
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 27494611
Akesson syndrome Associate 35986401
Arthritis Rheumatoid Associate 39342401
Baetz Greenwalt syndrome Associate 28009100
Breast Neoplasms Associate 24434436
Burnett Schwartz Berberian syndrome Associate 17586837
Carcinogenesis Associate 30355600
Carcinoma Giant Cell Associate 19352411, 25073238
Carcinoma Hepatocellular Associate 25980493, 28713927
Carcinoma Pancreatic Ductal Associate 28608476