Gene: SOS1

Basic information

Tag Content
Uniprot ID Q07889; A8K2G3; B4DXG2;
Entrez ID 6654
Genbank protein ID AAA35913.1; EAX00351.1; BAF82917.1; BAG63374.1;
Genbank nucleotide ID NM_005633.3
Ensembl protein ID ENSP00000384675
Ensembl nucleotide ID ENSG00000115904
Gene name Son of sevenless homolog 1
Gene symbol SOS1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 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).
Sequence
MQAQQLPYEF FSEENAPKWR GLLVPALKKV QGQVHPTLES NDDALQYVEE LILQLLNMLC 60
QAQPRSASDV EERVQKSFPH PIDKWAIADA QSAIEKRKRR NPLSLPVEKI HPLLKEVLGY 120
KIDHQVSVYI VAVLEYISAD ILKLVGNYVR NIRHYEITKQ DIKVAMCADK VLMDMFHQDV 180
EDINILSLTD EEPSTSGEQT YYDLVKAFMA EIRQYIRELN LIIKVFREPF VSNSKLFSAN 240
DVENIFSRIV DIHELSVKLL GHIEDTVEMT DEGSPHPLVG SCFEDLAEEL AFDPYESYAR 300
DILRPGFHDR FLSQLSKPGA ALYLQSIGEG FKEAVQYVLP RLLLAPVYHC LHYFELLKQL 360
EEKSEDQEDK ECLKQAITAL LNVQSGMEKI CSKSLAKRRL SESACRFYSQ QMKGKQLAIK 420
KMNEIQKNID GWEGKDIGQC CNEFIMEGTL TRVGAKHERH IFLFDGLMIC CKSNHGQPRL 480
PGASNAEYRL KEKFFMRKVQ INDKDDTNEY KHAFEIILKD ENSVIFSAKS AEEKNNWMAA 540
LISLQYRSTL ERMLDVTMLQ EEKEEQMRLP SADVYRFAEP DSEENIIFEE NMQPKAGIPI 600
IKAGTVIKLI ERLTYHMYAD PNFVRTFLTT YRSFCKPQEL LSLIIERFEI PEPEPTEADR 660
IAIENGDQPL SAELKRFRKE YIQPVQLRVL NVCRHWVEHH FYDFERDAYL LQRMEEFIGT 720
VRGKAMKKWV ESITKIIQRK KIARDNGPGH NITFQSSPPT VEWHISRPGH IETFDLLTLH 780
PIEIARQLTL LESDLYRAVQ PSELVGSVWT KEDKEINSPN LLKMIRHTTN LTLWFEKCIV 840
ETENLEERVA VVSRIIEILQ VFQELNNFNG VLEVVSAMNS SPVYRLDHTF EQIPSRQKKI 900
LEEAHELSED HYKKYLAKLR SINPPCVPFF GIYLTNILKT EEGNPEVLKR HGKELINFSK 960
RRKVAEITGE IQQYQNQPYC LRVESDIKRF FENLNPMGNS MEKEFTDYLF NKSLEIEPRN 1020
PKPLPRFPKK YSYPLKSPGV RPSNPRPGTM RHPTPLQQEP RKISYSRIPE SETESTASAP 1080
NSPRTPLTPP PASGASSTTD VCSVFDSDHS SPFHSSNDTV FIQVTLPHGP RSASVSSISL 1140
TKGTDEVPVP PPVPPRRRPE SAPAESSPSK IMSKHLDSPP AIPPRQPTSK AYSPRYSISD 1200
RTSISDPPES PPLLPPREPV RTPDVFSSSP LHLQPPPLGK KSDHGNAFFP NSPSPFTPPP 1260
PQTPSPHGTR RHLPSPPLTQ EVDLHSIAGP PVPPRQSTSQ HIPKLPPKTY KREHTHPSMH 1320
RDGPPLLENA HSS 1333

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSOS1102185660A0A452F6Z1Capra hircusPredictionMore>>
1:1 orthologSOS1100053889F6RQQ4Equus caballusPredictionMore>>
1:1 orthologSOS16654Q07889Homo sapiensPredictionMore>>
1:1 orthologSos120662Q62245CPOMus musculusPublicationMore>>
1:1 orthologSOS1459171A0A2I3T5C9Pan troglodytesPredictionMore>>
1:1 orthologSos1313845D4A3T0Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003677 DNA bindingIEA
GO:0005085 guanyl-nucleotide exchange factor activityEXP
GO:0005088 Ras guanyl-nucleotide exchange factor activityEXP
GO:0005088 Ras guanyl-nucleotide exchange factor activityTAS
GO:0005089 Rho guanyl-nucleotide exchange factor activityTAS
GO:0005096 GTPase activator activityTAS
GO:0005515 protein bindingIPI
GO:0017124 SH3 domain bindingIEA
GO:0046982 protein heterodimerization activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000165 MAPK cascadeTAS
GO:0001782 B cell homeostasisIEA
GO:0001942 hair follicle developmentIEA
GO:0003209 cardiac atrium morphogenesisIEA
GO:0003344 pericardium morphogenesisIEA
GO:0007165 signal transductionNAS
GO:0007173 epidermal growth factor receptor signaling pathwayTAS
GO:0007186 G protein-coupled receptor signaling pathwayTAS
GO:0007265 Ras protein signal transductionTAS
GO:0007296 vitellogenesisIEA
GO:0007411 axon guidanceTAS
GO:0008286 insulin receptor signaling pathwayTAS
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0033081 regulation of T cell differentiation in thymusIEA
GO:0035264 multicellular organism growthIEA
GO:0038095 Fc-epsilon receptor signaling pathwayTAS
GO:0038128 ERBB2 signaling pathwayTAS
GO:0042129 regulation of T cell proliferationIEA
GO:0043065 positive regulation of apoptotic processTAS
GO:0043547 positive regulation of GTPase activityIEA
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathwayIEA
GO:0048011 neurotrophin TRK receptor signaling pathwayTAS
GO:0048514 blood vessel morphogenesisIEA
GO:0050900 leukocyte migrationTAS
GO:0051056 regulation of small GTPase mediated signal transductionTAS
GO:0051057 positive regulation of small GTPase mediated signal transductionIEA
GO:0060021 roof of mouth developmentIEA
GO:0061029 eyelid development in camera-type eyeIEA
GO:0061384 heart trabecula morphogenesisIEA
GO:1904693 midbrain morphogenesisIEA
GO:2000973 regulation of pro-B cell differentiationIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000786 nucleosomeIEA
GO:0005737 cytoplasmIDA
GO:0005829 cytosolTAS
GO:0005886 plasma membraneTAS
GO:0014069 postsynaptic densityIEA
GO:0043025 neuronal cell bodyIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109582 HemostasisTAS
R-HSA-112399 IRS-mediated signallingTAS
R-HSA-112399 IRS-mediated signallingIEA
R-HSA-112412 SOS-mediated signallingTAS
R-HSA-112412 SOS-mediated signallingIEA
R-HSA-1226099 Signaling by FGFR in diseaseTAS
R-HSA-1227986 Signaling by ERBB2TAS
R-HSA-1227986 Signaling by ERBB2IEA
R-HSA-1227990 Signaling by ERBB2 in CancerTAS
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer VariantsTAS
R-HSA-1236394 Signaling by ERBB4TAS
R-HSA-1250196 SHC1 events in ERBB2 signalingIEA
R-HSA-1250347 SHC1 events in ERBB4 signalingTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1280218 Adaptive Immune SystemTAS
R-HSA-1280218 Adaptive Immune SystemIEA
R-HSA-1433557 Signaling by SCF-KITTAS
R-HSA-1433559 Regulation of KIT signalingTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-1643685 DiseaseTAS
R-HSA-1643713 Signaling by EGFR in CancerTAS
R-HSA-166520 Signaling by NTRKsTAS
R-HSA-166520 Signaling by NTRKsIEA
R-HSA-167044 Signalling to RASTAS
R-HSA-167044 Signalling to RASIEA
R-HSA-168249 Innate Immune SystemTAS
R-HSA-168249 Innate Immune SystemIEA
R-HSA-168256 Immune SystemTAS
R-HSA-168256 Immune SystemIEA
R-HSA-177929 Signaling by EGFRTAS
R-HSA-179812 GRB2 events in EGFR signalingTAS
R-HSA-180336 SHC1 events in EGFR signalingTAS
R-HSA-186763 Downstream signal transductionTAS
R-HSA-186797 Signaling by PDGFTAS
R-HSA-187037 Signaling by NTRK1 (TRKA)TAS
R-HSA-187037 Signaling by NTRK1 (TRKA)IEA
R-HSA-187687 Signalling to ERKsTAS
R-HSA-187687 Signalling to ERKsIEA
R-HSA-190236 Signaling by FGFRTAS
R-HSA-193648 NRAGE signals death through JNKTAS
R-HSA-193704 p75 NTR receptor-mediated signallingTAS
R-HSA-194315 Signaling by Rho GTPasesTAS
R-HSA-194840 Rho GTPase cycleTAS
R-HSA-1963640 GRB2 events in ERBB2 signalingTAS
R-HSA-1963640 GRB2 events in ERBB2 signalingIEA
R-HSA-202733 Cell surface interactions at the vascular wallTAS
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADETAS
R-HSA-210993 Tie2 SignalingTAS
R-HSA-2172127 DAP12 interactionsTAS
R-HSA-2179392 EGFR Transactivation by GastrinTAS
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)TAS
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)IEA
R-HSA-2424491 DAP12 signalingTAS
R-HSA-2428924 IGF1R signaling cascadeTAS
R-HSA-2428924 IGF1R signaling cascadeIEA
R-HSA-2428928 IRS-related events triggered by IGF1RTAS
R-HSA-2428928 IRS-related events triggered by IGF1RIEA
R-HSA-2428933 SHC-related events triggered by IGF1RTAS
R-HSA-2428933 SHC-related events triggered by IGF1RIEA
R-HSA-2454202 Fc epsilon receptor (FCERI) signalingTAS
R-HSA-2454202 Fc epsilon receptor (FCERI) signalingIEA
R-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilizationTAS
R-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilizationIEA
R-HSA-2871796 FCERI mediated MAPK activationTAS
R-HSA-2871809 FCERI mediated Ca+2 mobilizationIEA
R-HSA-2871809 FCERI mediated Ca+2 mobilizationTAS
R-HSA-354192 Integrin signalingTAS
R-HSA-354194 GRB2:SOS provides linkage to MAPK signaling for Integrins TAS
R-HSA-372790 Signaling by GPCRTAS
R-HSA-375165 NCAM signaling for neurite out-growthTAS
R-HSA-376176 Signaling by ROBO receptorsIEA
R-HSA-388396 GPCR downstream signallingTAS
R-HSA-416476 G alpha (q) signalling eventsTAS
R-HSA-416482 G alpha (12/13) signalling eventsTAS
R-HSA-422475 Axon guidanceIEA
R-HSA-422475 Axon guidanceTAS
R-HSA-428540 Activation of RAC1IEA
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-451927 Interleukin-2 family signalingTAS
R-HSA-512988 Interleukin-3, Interleukin-5 and GM-CSF signalingTAS
R-HSA-5637810 Constitutive Signaling by EGFRvIIITAS
R-HSA-5637812 Signaling by EGFRvIII in CancerTAS
R-HSA-5637815 Signaling by Ligand-Responsive EGFR Variants in CancerTAS
R-HSA-5654687 Downstream signaling of activated FGFR1TAS
R-HSA-5654688 SHC-mediated cascade:FGFR1TAS
R-HSA-5654693 FRS-mediated FGFR1 signalingTAS
R-HSA-5654696 Downstream signaling of activated FGFR2TAS
R-HSA-5654699 SHC-mediated cascade:FGFR2TAS
R-HSA-5654700 FRS-mediated FGFR2 signalingTAS
R-HSA-5654704 SHC-mediated cascade:FGFR3TAS
R-HSA-5654706 FRS-mediated FGFR3 signalingTAS
R-HSA-5654708 Downstream signaling of activated FGFR3TAS
R-HSA-5654712 FRS-mediated FGFR4 signalingTAS
R-HSA-5654716 Downstream signaling of activated FGFR4TAS
R-HSA-5654719 SHC-mediated cascade:FGFR4TAS
R-HSA-5654736 Signaling by FGFR1TAS
R-HSA-5654738 Signaling by FGFR2TAS
R-HSA-5654741 Signaling by FGFR3TAS
R-HSA-5654743 Signaling by FGFR4TAS
R-HSA-5655253 Signaling by FGFR2 in diseaseTAS
R-HSA-5655291 Signaling by FGFR4 in diseaseTAS
R-HSA-5655302 Signaling by FGFR1 in diseaseTAS
R-HSA-5655332 Signaling by FGFR3 in diseaseTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5673001 RAF/MAP kinase cascadeTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 signalingTAS
R-HSA-6806834 Signaling by METTAS
R-HSA-73887 Death Receptor SignallingTAS
R-HSA-74749 Signal attenuationTAS
R-HSA-74751 Insulin receptor signalling cascadeTAS
R-HSA-74751 Insulin receptor signalling cascadeIEA
R-HSA-74752 Signaling by Insulin receptorTAS
R-HSA-74752 Signaling by Insulin receptorIEA
R-HSA-76002 Platelet activation, signaling and aggregationTAS
R-HSA-76009 Platelet Aggregation (Plug Formation)TAS
R-HSA-881907 Gastrin-CREB signalling pathway via PKC and MAPKTAS
R-HSA-8851805 MET activates RAS signalingTAS
R-HSA-8853334 Signaling by FGFR3 fusions in cancerTAS
R-HSA-8853338 Signaling by FGFR3 point mutants in cancerTAS
R-HSA-8853659 RET signalingTAS
R-HSA-8983432 Interleukin-15 signalingTAS
R-HSA-9006115 Signaling by NTRK2 (TRKB)TAS
R-HSA-9006115 Signaling by NTRK2 (TRKB)IEA
R-HSA-9006335 Signaling by ErythropoietinIEA
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesIEA
R-HSA-9026519 Activated NTRK2 signals through RASIEA
R-HSA-9027284 Erythropoietin activates RASIEA
R-HSA-9028731 Activated NTRK2 signals through FRS2 and FRS3TAS
R-HSA-9028731 Activated NTRK2 signals through FRS2 and FRS3IEA
R-HSA-9034015 Signaling by NTRK3 (TRKC)IEA
R-HSA-9034864 Activated NTRK3 signals through RASIEA
R-HSA-912526 Interleukin receptor SHC signalingTAS
R-HSA-9607240 FLT3 SignalingTAS
R-HSA-9634285 Constitutive Signaling by Overexpressed ERBB2TAS
R-HSA-9664565 Signaling by ERBB2 KD MutantsTAS
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengersTAS
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengersIEA
R-HSA-983705 Signaling by the B Cell Receptor (BCR)TAS
R-HSA-983705 Signaling by the B Cell Receptor (BCR)IEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0225 Disease mutation
KW-0344 Guanine-nucleotide releasing factor
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR009072 Histone-fold
IPR007125 Histone_H2A/H2B/H3
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR019804 Ras_G-nucl-exch_fac_CS
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS50010 DH_2
PS50003 PH_DOMAIN
PS00720 RASGEF
PS50009 RASGEF_CAT
PS50212 RASGEF_NTER

Pfam

Pfam ID Pfam Term
PF00125 Histone
PF00169 PH
PF00617 RasGEF
PF00618 RasGEF_N
PF00621 RhoGEF

Protein-protein interaction

Protein-miRNA interaction