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Q07889

- SOS1_HUMAN

UniProt

Q07889 - SOS1_HUMAN

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Protein

Son of sevenless homolog 1

Gene
SOS1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. DNA binding Source: InterPro
  2. protein binding Source: UniProtKB
  3. Ras guanyl-nucleotide exchange factor activity Source: Reactome
  4. Rho GTPase activator activity Source: ProtInc
  5. Rho guanyl-nucleotide exchange factor activity Source: ProtInc

GO - Biological processi

  1. apoptotic signaling pathway Source: Reactome
  2. axon guidance Source: Reactome
  3. blood coagulation Source: Reactome
  4. epidermal growth factor receptor signaling pathway Source: Reactome
  5. Fc-epsilon receptor signaling pathway Source: Reactome
  6. fibroblast growth factor receptor signaling pathway Source: Reactome
  7. innate immune response Source: Reactome
  8. insulin receptor signaling pathway Source: Reactome
  9. leukocyte migration Source: Reactome
  10. neurotrophin TRK receptor signaling pathway Source: Reactome
  11. platelet activation Source: Reactome
  12. positive regulation of apoptotic process Source: Reactome
  13. positive regulation of epidermal growth factor receptor signaling pathway Source: Ensembl
  14. positive regulation of Rho GTPase activity Source: GOC
  15. positive regulation of small GTPase mediated signal transduction Source: Ensembl
  16. Ras protein signal transduction Source: Reactome
  17. regulation of Ras GTPase activity Source: GOC
  18. regulation of Rho GTPase activity Source: GOC
  19. regulation of small GTPase mediated signal transduction Source: Reactome
  20. signal transduction Source: ProtInc
  21. small GTPase mediated signal transduction Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiREACT_11051. Rho GTPase cycle.
REACT_111040. Signaling by SCF-KIT.
REACT_111225. Regulation of KIT signaling.
REACT_115852. Signaling by constitutively active EGFR.
REACT_115854. GRB2 events in ERBB2 signaling.
REACT_115993. SHC1 events in ERBB2 signaling.
REACT_116005. SHC1 events in ERBB4 signaling.
REACT_118700. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
REACT_12033. Signalling to RAS.
REACT_121096. EGFR Transactivation by Gastrin.
REACT_121398. Signaling by FGFR mutants.
REACT_12579. SHC1 events in EGFR signaling.
REACT_12606. GRB2 events in EGFR signaling.
REACT_12621. Tie2 Signaling.
REACT_13638. NRAGE signals death through JNK.
REACT_147814. DAP12 signaling.
REACT_163701. FCERI mediated MAPK activation.
REACT_163769. Role of LAT2/NTAL/LAB on calcium mobilization.
REACT_163834. FCERI mediated Ca+2 mobilization.
REACT_17025. Downstream signal transduction.
REACT_18334. NCAM signaling for neurite out-growth.
REACT_18407. G alpha (12/13) signalling events.
REACT_19226. Activation of Rac.
REACT_21247. FRS2-mediated cascade.
REACT_21374. SHC-mediated cascade.
REACT_23891. Interleukin receptor SHC signaling.
REACT_508. Signal attenuation.
REACT_524. SOS-mediated signalling.
REACT_661. SHC-mediated signalling.
SignaLinkiQ07889.

Names & Taxonomyi

Protein namesi
Recommended name:
Son of sevenless homolog 1
Short name:
SOS-1
Gene namesi
Name:SOS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:11187. SOS1.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. neuronal cell body Source: Ensembl
  3. plasma membrane Source: Reactome
  4. postsynaptic density Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Gingival fibromatosis 1 (GGF1) [MIM:135300]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti102 – 1021P → R in NS4. 1 Publication
VAR_066032
Natural varianti108 – 1081E → K in NS4. 2 Publications
VAR_030423
Natural varianti112 – 1121P → R in NS4. 1 Publication
VAR_066033
Natural varianti170 – 1701K → E in NS4. 3 Publications
VAR_066034
Natural varianti252 – 2521I → T in NS4. 1 Publication
Corresponds to variant rs142094234 [ dbSNP | Ensembl ].
VAR_066035
Natural varianti266 – 2661T → K in NS4. 3 Publications
Corresponds to variant rs137852812 [ dbSNP | Ensembl ].
VAR_030424
Natural varianti269 – 2691M → R in NS4. 3 Publications
Corresponds to variant rs137852813 [ dbSNP | Ensembl ].
VAR_030425
Natural varianti269 – 2691M → T in NS4. 3 Publications
VAR_064504
Natural varianti309 – 3091D → Y in NS4. 1 Publication
VAR_030426
Natural varianti337 – 3371Y → C in NS4. 1 Publication
VAR_030427
Natural varianti422 – 4221M → V in NS4. 1 Publication
VAR_066037
Natural varianti424 – 4241E → K in NS4. 1 Publication
VAR_066038
Natural varianti427 – 4304KNID → N in NS4.
VAR_066039
Natural varianti432 – 4332Missing in NS4.
VAR_066040
Natural varianti432 – 4321W → R in NS4. 3 Publications
VAR_030428
Natural varianti433 – 4331E → K in NS4. 3 Publications
VAR_030429
Natural varianti434 – 4341G → K in NS4; requires 2 nucleotide substitutions. 1 Publication
VAR_066041
Natural varianti434 – 4341G → R in NS4. 2 Publications
VAR_030430
Natural varianti437 – 4371I → T in NS4. 1 Publication
VAR_066042
Natural varianti441 – 4411C → Y in NS4. 2 Publications
VAR_030431
Natural varianti477 – 4771Q → R in NS4. 2 Publications
VAR_064505
Natural varianti478 – 4781P → R in NS4. 1 Publication
VAR_066044
Natural varianti482 – 4821G → R in NS4. 1 Publication
VAR_066045
Natural varianti490 – 4901L → R in NS4. 1 Publication
VAR_066046
Natural varianti497 – 4971R → Q in NS4; one patient with Noonan syndrome also carries a likely pathogenic mutation Ser-261 in RAF1; the mutant protein cannot induce ERK1 phosphorylation. 2 Publications
VAR_064506
Natural varianti548 – 5481S → R in NS4. 3 Publications
VAR_030432
Natural varianti549 – 5491T → K in NS4. 1 Publication
VAR_066047
Natural varianti550 – 5501L → P in NS4. 1 Publication
VAR_030433
Natural varianti552 – 5521R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. 4 Publications
Corresponds to variant rs137852814 [ dbSNP | Ensembl ].
VAR_030434
Natural varianti552 – 5521R → K in NS4. 2 Publications
VAR_030435
Natural varianti552 – 5521R → M in NS4. 1 Publication
VAR_066048
Natural varianti552 – 5521R → S in NS4. 2 Publications
VAR_030436
Natural varianti552 – 5521R → T in NS4. 1 Publication
VAR_066049
Natural varianti554 – 5585LDVTM → K in NS4.
VAR_066050
Natural varianti623 – 6231F → I in NS4. 1 Publication
VAR_066052
Natural varianti702 – 7021Y → H in NS4. 2 Publications
VAR_030438
Natural varianti729 – 7291W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. 1 Publication
VAR_030439
Natural varianti733 – 7331I → F in NS4. 2 Publications
VAR_030440
Natural varianti846 – 8461E → K in NS4. 3 Publications
VAR_030441
Natural varianti894 – 8941P → R in NS4. 1 Publication
VAR_066055

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi135300. phenotype.
610733. phenotype.
Orphaneti2024. Hereditary gingival fibromatosis.
648. Noonan syndrome.
PharmGKBiPA36024.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13331333Son of sevenless homolog 1PRO_0000068894Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1043 – 10431Phosphoserine
Modified residuei1078 – 10781Phosphoserine By similarity
Modified residuei1082 – 10821Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ07889.
PaxDbiQ07889.
PRIDEiQ07889.

PTM databases

PhosphoSiteiQ07889.

Expressioni

Tissue specificityi

Expressed in gingival tissues.1 Publication

Gene expression databases

ArrayExpressiQ07889.
BgeeiQ07889.
CleanExiHS_SOS1.
GenevestigatoriQ07889.

Organism-specific databases

HPAiCAB005396.
HPA012613.

Interactioni

Subunit structurei

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 NCK2.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Q5TCZ1-25EBI-297487,EBI-7014859
CRKP461082EBI-297487,EBI-886
CRKLP461092EBI-297487,EBI-910
GRB2P6299322EBI-297487,EBI-401755
HCKP086314EBI-297487,EBI-346340
HRASP011128EBI-297487,EBI-350145
NCK1P163335EBI-297487,EBI-389883
NEBP209293EBI-297487,EBI-1049657
PACSIN3Q9UKS62EBI-297487,EBI-77926
PIK3R1P279862EBI-297487,EBI-79464
PLCG1P191743EBI-297487,EBI-79387
SHC1P293532EBI-297487,EBI-78835
SNX9Q9Y5X12EBI-297487,EBI-77848

Protein-protein interaction databases

BioGridi112537. 47 interactions.
DIPiDIP-31802N.
IntActiQ07889. 30 interactions.
MINTiMINT-106583.
STRINGi9606.ENSP00000384675.

Structurei

Secondary structure

1
1333
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni13 – 153
Beta strandi19 – 235
Helixi24 – 3411
Beta strandi36 – 394
Helixi42 – 6120
Helixi67 – 7711
Helixi82 – 9413
Beta strandi100 – 1023
Helixi107 – 11812
Helixi124 – 15128
Helixi159 – 16810
Helixi172 – 1754
Helixi201 – 22424
Turni225 – 2273
Helixi228 – 2325
Turni234 – 2363
Helixi239 – 2468
Helixi249 – 26820
Beta strandi274 – 2763
Helixi280 – 2889
Turni289 – 2924
Helixi293 – 30210
Helixi307 – 31610
Helixi320 – 3278
Helixi331 – 3377
Helixi339 – 3424
Helixi345 – 36319
Helixi367 – 37913
Helixi381 – 39212
Helixi394 – 4029
Helixi420 – 4267
Beta strandi429 – 4313
Helixi437 – 4393
Beta strandi444 – 4529
Turni453 – 4564
Beta strandi459 – 47315
Helixi480 – 4823
Beta strandi487 – 49610
Beta strandi500 – 5034
Beta strandi507 – 5093
Beta strandi512 – 5165
Turni519 – 5213
Beta strandi524 – 5274
Helixi531 – 54515
Turni546 – 5494
Turni572 – 5743
Helixi576 – 5783
Turni583 – 5853
Beta strandi586 – 5883
Beta strandi590 – 5923
Beta strandi601 – 6044
Helixi606 – 6138
Beta strandi616 – 6183
Helixi621 – 63010
Helixi631 – 6333
Helixi637 – 64812
Helixi657 – 6637
Turni664 – 6663
Helixi672 – 6809
Helixi682 – 69918
Helixi702 – 7065
Helixi708 – 72013
Helixi724 – 74219
Beta strandi764 – 7663
Helixi771 – 7733
Turni776 – 7783
Helixi781 – 79717
Helixi801 – 8033
Helixi805 – 8106
Helixi814 – 8174
Helixi819 – 84022
Helixi845 – 86420
Helixi868 – 87811
Helixi881 – 8844
Helixi887 – 8915
Helixi895 – 92127
Helixi931 – 94212
Beta strandi946 – 9505
Beta strandi953 – 9575
Helixi958 – 97316
Helixi985 – 9928
Turni996 – 9994
Helixi1002 – 101615
Beta strandi1020 – 10223

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AWENMR-A422-551[»]
1BKDX-ray2.80S568-1044[»]
1DBHX-ray2.30A198-551[»]
1NVUX-ray2.20S566-1046[»]
1NVVX-ray2.18S566-1046[»]
1NVWX-ray2.70S566-1046[»]
1NVXX-ray3.20S566-1046[»]
1Q9CX-ray3.21A/B/C/D/E/F/G/H/I1-191[»]
1XD2X-ray2.70C566-1049[»]
1XD4X-ray3.64A/B198-1049[»]
1XDVX-ray4.10A/B198-1044[»]
2II0X-ray2.02A564-1049[»]
3KSYX-ray3.18A1-1049[»]
4NYIX-ray2.96S566-1046[»]
4NYJX-ray2.85S566-1046[»]
4NYMX-ray3.55S566-1046[»]
ProteinModelPortaliQ07889.
SMRiQ07889. Positions 6-183, 198-1046.

Miscellaneous databases

EvolutionaryTraceiQ07889.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini200 – 390191DHAdd
BLAST
Domaini444 – 548105PHAdd
BLAST
Domaini597 – 741145N-terminal Ras-GEFAdd
BLAST
Domaini780 – 1019240Ras-GEFAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1258 – 12614Poly-Pro

Sequence similaritiesi

Contains 1 PH domain.
Contains 1 Ras-GEF domain.

Phylogenomic databases

eggNOGiNOG265981.
HOGENOMiHOG000013040.
HOVERGENiHBG017831.
InParanoidiQ07889.
KOiK03099.
OMAiSVFDSDH.
OrthoDBiEOG7XSTD0.
PhylomeDBiQ07889.
TreeFamiTF317296.

Family and domain databases

Gene3Di1.10.20.10. 1 hit.
1.10.840.10. 1 hit.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR009072. Histone-fold.
IPR007125. Histone_core_D.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR023578. Ras_GEF_dom.
IPR001895. RasGRF_CDC25.
[Graphical view]
PfamiPF00125. Histone. 1 hit.
PF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF47113. SSF47113. 1 hit.
SSF48065. SSF48065. 1 hit.
SSF48366. SSF48366. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS00720. RASGEF. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q07889-1 [UniParc]FASTAAdd to Basket

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MQAQQLPYEF FSEENAPKWR GLLVPALKKV QGQVHPTLES NDDALQYVEE     50
LILQLLNMLC QAQPRSASDV EERVQKSFPH PIDKWAIADA QSAIEKRKRR 100
NPLSLPVEKI HPLLKEVLGY KIDHQVSVYI VAVLEYISAD ILKLVGNYVR 150
NIRHYEITKQ DIKVAMCADK VLMDMFHQDV EDINILSLTD EEPSTSGEQT 200
YYDLVKAFMA EIRQYIRELN LIIKVFREPF VSNSKLFSAN DVENIFSRIV 250
DIHELSVKLL GHIEDTVEMT DEGSPHPLVG SCFEDLAEEL AFDPYESYAR 300
DILRPGFHDR FLSQLSKPGA ALYLQSIGEG FKEAVQYVLP RLLLAPVYHC 350
LHYFELLKQL EEKSEDQEDK ECLKQAITAL LNVQSGMEKI CSKSLAKRRL 400
SESACRFYSQ QMKGKQLAIK KMNEIQKNID GWEGKDIGQC CNEFIMEGTL 450
TRVGAKHERH IFLFDGLMIC CKSNHGQPRL PGASNAEYRL KEKFFMRKVQ 500
INDKDDTNEY KHAFEIILKD ENSVIFSAKS AEEKNNWMAA LISLQYRSTL 550
ERMLDVTMLQ EEKEEQMRLP SADVYRFAEP DSEENIIFEE NMQPKAGIPI 600
IKAGTVIKLI ERLTYHMYAD PNFVRTFLTT YRSFCKPQEL LSLIIERFEI 650
PEPEPTEADR IAIENGDQPL SAELKRFRKE YIQPVQLRVL NVCRHWVEHH 700
FYDFERDAYL LQRMEEFIGT VRGKAMKKWV ESITKIIQRK KIARDNGPGH 750
NITFQSSPPT VEWHISRPGH IETFDLLTLH PIEIARQLTL LESDLYRAVQ 800
PSELVGSVWT KEDKEINSPN LLKMIRHTTN LTLWFEKCIV ETENLEERVA 850
VVSRIIEILQ VFQELNNFNG VLEVVSAMNS SPVYRLDHTF EQIPSRQKKI 900
LEEAHELSED HYKKYLAKLR SINPPCVPFF GIYLTNILKT EEGNPEVLKR 950
HGKELINFSK RRKVAEITGE IQQYQNQPYC LRVESDIKRF FENLNPMGNS 1000
MEKEFTDYLF NKSLEIEPRN PKPLPRFPKK YSYPLKSPGV RPSNPRPGTM 1050
RHPTPLQQEP RKISYSRIPE SETESTASAP NSPRTPLTPP PASGASSTTD 1100
VCSVFDSDHS SPFHSSNDTV FIQVTLPHGP RSASVSSISL TKGTDEVPVP 1150
PPVPPRRRPE SAPAESSPSK IMSKHLDSPP AIPPRQPTSK AYSPRYSISD 1200
RTSISDPPES PPLLPPREPV RTPDVFSSSP LHLQPPPLGK KSDHGNAFFP 1250
NSPSPFTPPP PQTPSPHGTR RHLPSPPLTQ EVDLHSIAGP PVPPRQSTSQ 1300
HIPKLPPKTY KREHTHPSMH RDGPPLLENA HSS 1333
Length:1,333
Mass (Da):152,464
Last modified:November 1, 1996 - v1
Checksum:iC6B99CCA11A8DE45
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371T → A in a patient with Noonan syndrome. 1 Publication
Corresponds to variant rs150565592 [ dbSNP | Ensembl ].
VAR_066031
Natural varianti102 – 1021P → R in NS4. 1 Publication
VAR_066032
Natural varianti108 – 1081E → K in NS4. 2 Publications
VAR_030423
Natural varianti112 – 1121P → R in NS4. 1 Publication
VAR_066033
Natural varianti170 – 1701K → E in NS4. 3 Publications
VAR_066034
Natural varianti252 – 2521I → T in NS4. 1 Publication
Corresponds to variant rs142094234 [ dbSNP | Ensembl ].
VAR_066035
Natural varianti266 – 2661T → K in NS4. 3 Publications
Corresponds to variant rs137852812 [ dbSNP | Ensembl ].
VAR_030424
Natural varianti269 – 2691M → R in NS4. 3 Publications
Corresponds to variant rs137852813 [ dbSNP | Ensembl ].
VAR_030425
Natural varianti269 – 2691M → T in NS4. 3 Publications
VAR_064504
Natural varianti309 – 3091D → Y in NS4. 1 Publication
VAR_030426
Natural varianti337 – 3371Y → C in NS4. 1 Publication
VAR_030427
Natural varianti378 – 3781T → A in a patient with Noonan syndrome. 1 Publication
VAR_066036
Natural varianti422 – 4221M → V in NS4. 1 Publication
VAR_066037
Natural varianti424 – 4241E → K in NS4. 1 Publication
VAR_066038
Natural varianti427 – 4304KNID → N in NS4.
VAR_066039
Natural varianti432 – 4332Missing in NS4.
VAR_066040
Natural varianti432 – 4321W → R in NS4. 3 Publications
VAR_030428
Natural varianti433 – 4331E → K in NS4. 3 Publications
VAR_030429
Natural varianti434 – 4341G → K in NS4; requires 2 nucleotide substitutions. 1 Publication
VAR_066041
Natural varianti434 – 4341G → R in NS4. 2 Publications
VAR_030430
Natural varianti437 – 4371I → T in NS4. 1 Publication
VAR_066042
Natural varianti441 – 4411C → Y in NS4. 2 Publications
VAR_030431
Natural varianti477 – 4771Q → R in NS4. 2 Publications
VAR_064505
Natural varianti478 – 4781P → L Found in patients with Noonan syndrome. 1 Publication
VAR_066043
Natural varianti478 – 4781P → R in NS4. 1 Publication
VAR_066044
Natural varianti482 – 4821G → R in NS4. 1 Publication
VAR_066045
Natural varianti490 – 4901L → R in NS4. 1 Publication
VAR_066046
Natural varianti497 – 4971R → Q in NS4; one patient with Noonan syndrome also carries a likely pathogenic mutation Ser-261 in RAF1; the mutant protein cannot induce ERK1 phosphorylation. 2 Publications
VAR_064506
Natural varianti548 – 5481S → R in NS4. 3 Publications
VAR_030432
Natural varianti549 – 5491T → K in NS4. 1 Publication
VAR_066047
Natural varianti550 – 5501L → P in NS4. 1 Publication
VAR_030433
Natural varianti552 – 5521R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. 4 Publications
Corresponds to variant rs137852814 [ dbSNP | Ensembl ].
VAR_030434
Natural varianti552 – 5521R → K in NS4. 2 Publications
VAR_030435
Natural varianti552 – 5521R → M in NS4. 1 Publication
VAR_066048
Natural varianti552 – 5521R → S in NS4. 2 Publications
VAR_030436
Natural varianti552 – 5521R → T in NS4. 1 Publication
VAR_066049
Natural varianti554 – 5585LDVTM → K in NS4.
VAR_066050
Natural varianti569 – 5691L → V.2 Publications
VAR_066051
Natural varianti623 – 6231F → I in NS4. 1 Publication
VAR_066052
Natural varianti655 – 6551P → L.4 Publications
Corresponds to variant rs56219475 [ dbSNP | Ensembl ].
VAR_030437
Natural varianti702 – 7021Y → H in NS4. 2 Publications
VAR_030438
Natural varianti708 – 7081A → T.1 Publication
Corresponds to variant rs140811086 [ dbSNP | Ensembl ].
VAR_066053
Natural varianti729 – 7291W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. 1 Publication
VAR_030439
Natural varianti733 – 7331I → F in NS4. 2 Publications
VAR_030440
Natural varianti784 – 7841I → T in a patient with Noonan syndrome. 1 Publication
VAR_066054
Natural varianti846 – 8461E → K in NS4. 3 Publications
VAR_030441
Natural varianti894 – 8941P → R in NS4. 1 Publication
VAR_066055
Natural varianti977 – 9771Q → R.1 Publication
VAR_030442
Natural varianti1011 – 10111N → S.1 Publication
Corresponds to variant rs8192671 [ dbSNP | Ensembl ].
VAR_066056
Natural varianti1131 – 11311R → K in a patient with Noonan syndrome. 1 Publication
Corresponds to variant rs141676532 [ dbSNP | Ensembl ].
VAR_066057
Natural varianti1140 – 11401L → I in a patient with Noonan syndrome. 1 Publication
VAR_066058
Natural varianti1257 – 12571T → A in a patient with Noonan syndrome. 1 Publication
VAR_066059
Natural varianti1320 – 13201H → R.2 Publications
VAR_030443

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L13857 mRNA. Translation: AAA35913.1.
AK290228 mRNA. Translation: BAF82917.1.
CH471053 Genomic DNA. Translation: EAX00351.1.
CCDSiCCDS1802.1.
PIRiA37488.
RefSeqiNP_005624.2. NM_005633.3.
UniGeneiHs.709893.
Hs.732497.

Genome annotation databases

EnsembliENST00000402219; ENSP00000384675; ENSG00000115904.
ENST00000426016; ENSP00000387784; ENSG00000115904.
GeneIDi6654.
KEGGihsa:6654.
UCSCiuc002rrk.4. human.

Polymorphism databases

DMDMi6094322.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Son of sevenless entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L13857 mRNA. Translation: AAA35913.1 .
AK290228 mRNA. Translation: BAF82917.1 .
CH471053 Genomic DNA. Translation: EAX00351.1 .
CCDSi CCDS1802.1.
PIRi A37488.
RefSeqi NP_005624.2. NM_005633.3.
UniGenei Hs.709893.
Hs.732497.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1AWE NMR - A 422-551 [» ]
1BKD X-ray 2.80 S 568-1044 [» ]
1DBH X-ray 2.30 A 198-551 [» ]
1NVU X-ray 2.20 S 566-1046 [» ]
1NVV X-ray 2.18 S 566-1046 [» ]
1NVW X-ray 2.70 S 566-1046 [» ]
1NVX X-ray 3.20 S 566-1046 [» ]
1Q9C X-ray 3.21 A/B/C/D/E/F/G/H/I 1-191 [» ]
1XD2 X-ray 2.70 C 566-1049 [» ]
1XD4 X-ray 3.64 A/B 198-1049 [» ]
1XDV X-ray 4.10 A/B 198-1044 [» ]
2II0 X-ray 2.02 A 564-1049 [» ]
3KSY X-ray 3.18 A 1-1049 [» ]
4NYI X-ray 2.96 S 566-1046 [» ]
4NYJ X-ray 2.85 S 566-1046 [» ]
4NYM X-ray 3.55 S 566-1046 [» ]
ProteinModelPortali Q07889.
SMRi Q07889. Positions 6-183, 198-1046.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112537. 47 interactions.
DIPi DIP-31802N.
IntActi Q07889. 30 interactions.
MINTi MINT-106583.
STRINGi 9606.ENSP00000384675.

Chemistry

ChEMBLi CHEMBL2079846.

PTM databases

PhosphoSitei Q07889.

Polymorphism databases

DMDMi 6094322.

Proteomic databases

MaxQBi Q07889.
PaxDbi Q07889.
PRIDEi Q07889.

Protocols and materials databases

DNASUi 6654.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000402219 ; ENSP00000384675 ; ENSG00000115904 .
ENST00000426016 ; ENSP00000387784 ; ENSG00000115904 .
GeneIDi 6654.
KEGGi hsa:6654.
UCSCi uc002rrk.4. human.

Organism-specific databases

CTDi 6654.
GeneCardsi GC02M039208.
GeneReviewsi SOS1.
HGNCi HGNC:11187. SOS1.
HPAi CAB005396.
HPA012613.
MIMi 135300. phenotype.
182530. gene.
610733. phenotype.
neXtProti NX_Q07889.
Orphaneti 2024. Hereditary gingival fibromatosis.
648. Noonan syndrome.
PharmGKBi PA36024.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG265981.
HOGENOMi HOG000013040.
HOVERGENi HBG017831.
InParanoidi Q07889.
KOi K03099.
OMAi SVFDSDH.
OrthoDBi EOG7XSTD0.
PhylomeDBi Q07889.
TreeFami TF317296.

Enzyme and pathway databases

Reactomei REACT_11051. Rho GTPase cycle.
REACT_111040. Signaling by SCF-KIT.
REACT_111225. Regulation of KIT signaling.
REACT_115852. Signaling by constitutively active EGFR.
REACT_115854. GRB2 events in ERBB2 signaling.
REACT_115993. SHC1 events in ERBB2 signaling.
REACT_116005. SHC1 events in ERBB4 signaling.
REACT_118700. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
REACT_12033. Signalling to RAS.
REACT_121096. EGFR Transactivation by Gastrin.
REACT_121398. Signaling by FGFR mutants.
REACT_12579. SHC1 events in EGFR signaling.
REACT_12606. GRB2 events in EGFR signaling.
REACT_12621. Tie2 Signaling.
REACT_13638. NRAGE signals death through JNK.
REACT_147814. DAP12 signaling.
REACT_163701. FCERI mediated MAPK activation.
REACT_163769. Role of LAT2/NTAL/LAB on calcium mobilization.
REACT_163834. FCERI mediated Ca+2 mobilization.
REACT_17025. Downstream signal transduction.
REACT_18334. NCAM signaling for neurite out-growth.
REACT_18407. G alpha (12/13) signalling events.
REACT_19226. Activation of Rac.
REACT_21247. FRS2-mediated cascade.
REACT_21374. SHC-mediated cascade.
REACT_23891. Interleukin receptor SHC signaling.
REACT_508. Signal attenuation.
REACT_524. SOS-mediated signalling.
REACT_661. SHC-mediated signalling.
SignaLinki Q07889.

Miscellaneous databases

ChiTaRSi SOS1. human.
EvolutionaryTracei Q07889.
GeneWikii SOS1.
GenomeRNAii 6654.
NextBioi 25939.
PROi Q07889.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q07889.
Bgeei Q07889.
CleanExi HS_SOS1.
Genevestigatori Q07889.

Family and domain databases

Gene3Di 1.10.20.10. 1 hit.
1.10.840.10. 1 hit.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProi IPR000219. DH-domain.
IPR009072. Histone-fold.
IPR007125. Histone_core_D.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR023578. Ras_GEF_dom.
IPR001895. RasGRF_CDC25.
[Graphical view ]
Pfami PF00125. Histone. 1 hit.
PF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view ]
SMARTi SM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view ]
SUPFAMi SSF47113. SSF47113. 1 hit.
SSF48065. SSF48065. 1 hit.
SSF48366. SSF48366. 1 hit.
PROSITEi PS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS00720. RASGEF. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2."
    Chardin P., Camonis J.H., Gale N.W., van Aelst L., Wigler M.H., Bar-Sagi D.
    Science 260:1338-1343(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thalamus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Association of the DF3/MUC1 breast cancer antigen with Grb2 and the Sos/Ras exchange protein."
    Pandey P., Kharbanda S., Kufe D.
    Cancer Res. 55:4000-4003(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A COMPLEX WITH MUC1 AND GRB2, INTERACTION WITH MUC1.
  5. "Identification of Grb4/Nckbeta, a src homology 2 and 3 domain-containing adapter protein having similar binding and biological properties to Nck."
    Braverman L.E., Quilliam L.A.
    J. Biol. Chem. 274:5542-5549(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NCK1 AND NCK2.
  6. Cited for: INTERACTION WITH LAT2.
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "The solution structure of the pleckstrin homology domain of human SOS1. A possible structural role for the sequential association of diffuse B cell lymphoma and pleckstrin homology domains."
    Zheng J., Chen R.H., Corblan-Garcia S., Cahill S.M., Bar-Sagi D., Cowburn D.
    J. Biol. Chem. 272:30340-30344(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 422-551.
  11. "Crystal structure of the Dbl and pleckstrin homology domains from the human Son of sevenless protein."
    Soisson S.M., Nimnual A.S., Uy M., Bar-Sagi D., Kuriyan J.
    Cell 95:259-268(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 198-551.
  12. "A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1."
    Hart T.C., Zhang Y., Gorry M.C., Hart P.S., Cooper M., Marazita M.L., Marks J.M., Cortelli J.R., Pallos D.
    Am. J. Hum. Genet. 70:943-954(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN GGF1, TISSUE SPECIFICITY.
  13. Cited for: VARIANTS NS4 LYS-266; ARG-269; TYR-309; CYS-337; ARG-434; ARG-548; GLY-552 AND LYS-846, VARIANT LEU-655.
  14. Cited for: VARIANTS NS4 LYS-108; ARG-269; ARG-432; LYS-433; TYR-441; ARG-548; PRO-550; GLY-552; LYS-552; SER-552; HIS-702; LEU-729; PHE-733 AND LYS-846, VARIANTS LEU-655; ARG-977 AND ARG-1320, CHARACTERIZATION OF VARIANTS NS4 GLY-552 AND LEU-729.
  15. "PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome."
    Ko J.M., Kim J.M., Kim G.H., Yoo H.W.
    J. Hum. Genet. 53:999-1006(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NS4 GLU-170.
  16. "SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome."
    Hanna N., Parfait B., Talaat I.M., Vidaud M., Elsedfy H.H.
    Clin. Genet. 75:568-571(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NS4 ARG-432.
  17. "Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations."
    Longoni M., Moncini S., Cisternino M., Morella I.M., Ferraiuolo S., Russo S., Mannarino S., Brazzelli V., Coi P., Zippel R., Venturin M., Riva P.
    Am. J. Med. Genet. A 152:2176-2184(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NS4 THR-269; ARG-477 AND HIS-702, VARIANT GLN-497, CHARACTERIZATION OF VARIANT GLN-497.
  18. "Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I."
    Fabretto A., Kutsche K., Harmsen M.B., Demarini S., Gasparini P., Fertz M.C., Zenker M.
    Eur. J. Med. Genet. 53:322-324(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NS4 ILE-623.
  19. Cited for: VARIANTS NS4 ARG-102; GLU-170; LYS-266; THR-269; LYS-433 AND GLY-552, VARIANTS ALA-378; VAL-569 AND LEU-655.
  20. Cited for: VARIANTS NS4 LYS-108; ARG-112; GLU-170; THR-252; LYS-266; THR-269; ARG-269; VAL-422; LYS-424; 427-LYS--ASP-430 DELINS ASN; ARG-432; 432-TRP-GLU-433 DEL; LYS-433; ARG-434; LYS-434; THR-437; TYR-441; ARG-477; ARG-478; ARG-482; ARG-490; GLN-497; ARG-548; LYS-549; GLY-552; LYS-552; MET-552; THR-552; SER-552; 554-LEU--MET-558 DELINS LYS; PHE-733; LYS-846 AND ARG-894, VARIANTS ALA-37; LEU-478; VAL-569; LEU-655; THR-708; THR-784; SER-1011; LYS-1131; ILE-1140; ALA-1257 AND ARG-1320.

Entry informationi

Entry nameiSOS1_HUMAN
AccessioniPrimary (citable) accession number: Q07889
Secondary accession number(s): A8K2G3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1996
Last modified: September 3, 2014
This is version 162 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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