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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NS4
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:0000165 Process MAPK cascade TAS
GO:0001782 Process B cell homeostasis IEA
GO:0001942 Process Hair follicle development IEA
GO:0003209 Process Cardiac atrium morphogenesis IEA
GO:0003344 Process Pericardium 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Fibromatosis fibromatosis, gingival, 1 GenCC
Costello Syndrome Costello syndrome GenCC
Cardiofaciocutaneous Syndrome cardiofaciocutaneous syndrome GenCC
Corticobasal Degeneration Corticobasal Degeneration GWAS
Associations from Text Mining
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