SOS1
entrez
6654
canonical
uniprot
Q07889
canonical
ensembl
ENSG00000115904
resolver
ensp
ENSP00000378479
resolver
ensp
ENSP00000384675
resolver
ensp
ENSP00000509424
resolver
ensp
ENSP00000685593
resolver
ensp
ENSP00000732004
resolver
enst
ENST00000395038
resolver
genesymbol
SOS1
resolver
hgnc
HGNC:11187
resolver
uniprot
A8K2G3
resolver
uniprot
B4DXG2
resolver
uniprot
G5E9C8
resolver
uniprot_entry
G5E9C8_HUMAN
resolver
uniprot_entry
SOS1_HUMAN
resolver
uniprot_sec
A8K2G3
resolver
uniprot_sec
B4DXG2
resolver
amino_acid_sequence
MQAQQLPYEFFSEENAPKWRGLLVPALKKVQGQVHPTLESNDDALQYVEELILQLLNMLCQAQPRSASDVEERVQKSFPHPIDKWAIADAQSAIEKRKRRNPLSLPVEKIHPLLKEVLGYKIDHQVSVYIVAVLEYISADILKLVGNYVRNIRHYEITKQDIKVAMCADKVLMDMFHQDVEDINILSLTDEEPSTSGEQTYYDLVKAFMAEIRQYIRELNLIIKVFREPFVSNSKLFSANDVENIFSRIVDIHELSVKLLGHIEDTVEMTDEGSPHPLVGSCFEDLAEELAFDPYESYARDILRPGFHDRFLSQLSKPGAALYLQSIGEGFKEAVQYVLPRLLLAPVYHCLHYFELLKQLEEKSEDQEDKECLKQAITALLNVQSGMEKICSKSLAKRRLSESACRFYSQQMKGKQLAIKKMNEIQKNIDGWEGKDIGQCCNEFIMEGTLTRVGAKHERHIFLFDGLMICCKSNHGQPRLPGASNAEYRLKEKFFMRKVQINDKDDTNEYKHAFEIILKDENSVIFSAKSAEEKNNWMAALISLQYRSTLERMLDVTMLQEEKEEQMRLPSADVYRFAEPDSEENIIFEENMQPKAGIPIIKAGTVIKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLIIERFEIPEPEPTEADRIAIENGDQPLSAELKRFRKEYIQPVQLRVLNVCRHWVEHHFYDFERDAYLLQRMEEFIGTVRGKAMKKWVESITKIIQRKKIARDNGPGHNITFQSSPPTVEWHISRPGHIETFDLLTLHPIEIARQLTLLESDLYRAVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIVETENLEERVAVVSRIIEILQVFQELNNFNGVLEVVSAMNSSPVYRLDHTFEQIPSRQKKILEEAHELSEDHYKKYLAKLRSINPPCVPFFGIYLTNILKTEEGNPEVLKRHGKELINFSKRRKVAEITGEIQQYQNQPYCLRVESDIKRFFENLNPMGNSMEKEFTDYLFNKSLEIEPRNPKPLPRFPKKYSYPLKSPGVRPSNPRPGTMRHPTPLQQEPRKISYSRIPESETESTASAPNSPRTPLTPPPASGASSTTDVCSVFDSDHSSPFHSSNDTVFIQVTLPHGPRSASVSSISLTKGTDEVPVPPPVPPRRRPESAPAESSPSKIMSKHLDSPPAIPPRQPTSKAYSPRYSISDRTSISDPPESPPLLPPREPVRTPDVFSSSPLHLQPPPLGKKSDHGNAFFPNSPSPFTPPPPQTPSPHGTRRHLPSPPLTQEVDLHSIAGPPVPPRQSTSQHIPKLPPKTYKREHTHPSMHRDGPPLLENAHSS
uniprot
proteins
disease_involvement
DISEASE: Fibromatosis, gingival, 1 (GINGF1) [MIM:135300]: A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. {ECO:0000269|PubMed:11868160}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Noonan syndrome 4 (NS4) [MIM:610733]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:19020799, ECO:0000269|PubMed:19438935, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:20673819, ECO:0000269|PubMed:20683980, ECO:0000269|PubMed:21387466}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity). {ECO:0000250|UniProtKB:Q62245, ECO:0000269|PubMed:17339331, ECO:0000269|PubMed:8493579}.
uniprot
proteins
mass_dalton
152464
uniprot
proteins
mutagenesis
MUTAGEN 282; /note="C->R: Increases MAPK3 phosphorylation in response to EGF stimulation."; /evidence="ECO:0000269|PubMed:17339331"; MUTAGEN 1134; /note="S->A: Loss of phosphorylation, disruption of interaction with YWHAB and YWHAE, and modest increase in the magnitude and duration of EGF-induced MAPK1/3 phosphorylation; when associated with A-1161."; /evidence="ECO:0000269|PubMed:22827337"; MUTAGEN 1161; /note="S->A: Loss of phosphorylation, disruption of interaction with YWHAB and YWHAE, and modest increase in the magnitude and duration of EGF-induced MAPK1/3 phosphorylation; when associated with A-1134."; /evidence="ECO:0000269|PubMed:22827337
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-1134 and Ser-1161 by RPS6KA3 create YWHAB and YWHAE binding sites and which contribute to the negative regulation of EGF-induced MAPK1/3 phosphorylation. {ECO:0000269|PubMed:22827337}.
uniprot
proteins
pubmed
10026169
uniprot
proteins
pubmed
11868160
uniprot
proteins
pubmed
12486104
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17143282
uniprot
proteins
pubmed
17143285
uniprot
proteins
pubmed
17339331
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19020799
uniprot
proteins
pubmed
19438935
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19953625
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20673819
uniprot
proteins
pubmed
20683980
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21387466
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22827337
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7664271
uniprot
proteins
pubmed
8493579
uniprot
proteins
pubmed
9374522
uniprot
proteins
pubmed
9790532
uniprot
proteins
sequence_length
1333
uniprot
proteins