Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q07889 (SOS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 158. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Son of sevenless homolog 1

Short name=SOS-1
Gene names
Name:SOS1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1333 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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. Ref.4 Ref.5 Ref.6

Tissue specificity

Expressed in gingival tissues. Ref.12

Involvement in disease

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. Ref.12

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. Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20

Sequence similarities

Contains 1 DH (DBL-homology) domain.

Contains 1 N-terminal Ras-GEF domain.

Contains 1 PH domain.

Contains 1 Ras-GEF domain.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   Molecular functionGuanine-nucleotide releasing factor
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processFc-epsilon receptor signaling pathway

Traceable author statement. Source: Reactome

Ras protein signal transduction

Traceable author statement. Source: Reactome

apoptotic signaling pathway

Traceable author statement. Source: Reactome

axon guidance

Traceable author statement. Source: Reactome

blood coagulation

Traceable author statement. Source: Reactome

epidermal growth factor receptor signaling pathway

Traceable author statement. Source: Reactome

fibroblast growth factor receptor signaling pathway

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

insulin receptor signaling pathway

Traceable author statement. Source: Reactome

leukocyte migration

Traceable author statement. Source: Reactome

neurotrophin TRK receptor signaling pathway

Traceable author statement. Source: Reactome

platelet activation

Traceable author statement. Source: Reactome

positive regulation of Rho GTPase activity

Traceable author statement Ref.11. Source: GOC

positive regulation of apoptotic process

Traceable author statement. Source: Reactome

positive regulation of epidermal growth factor receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of small GTPase mediated signal transduction

Inferred from electronic annotation. Source: Ensembl

regulation of Ras GTPase activity

Inferred from experiment. Source: GOC

regulation of Rho GTPase activity

Traceable author statement Ref.11. Source: GOC

regulation of small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

signal transduction

Non-traceable author statement Ref.1. Source: ProtInc

small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

neuronal cell body

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic density

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: InterPro

Ras guanyl-nucleotide exchange factor activity

Inferred from experiment. Source: Reactome

Rho GTPase activator activity

Traceable author statement Ref.11. Source: ProtInc

Rho guanyl-nucleotide exchange factor activity

Traceable author statement Ref.11. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13331333Son of sevenless homolog 1
PRO_0000068894

Regions

Domain200 – 390191DH
Domain444 – 548105PH
Domain597 – 741145N-terminal Ras-GEF
Domain780 – 1019240Ras-GEF
Compositional bias1258 – 12614Poly-Pro

Amino acid modifications

Modified residue10431Phosphoserine
Modified residue10781Phosphoserine By similarity
Modified residue10821Phosphoserine By similarity

Natural variations

Natural variant371T → A in a patient with Noonan syndrome. Ref.20
Corresponds to variant rs150565592 [ dbSNP | Ensembl ].
VAR_066031
Natural variant1021P → R in NS4. Ref.19
VAR_066032
Natural variant1081E → K in NS4. Ref.14 Ref.20
VAR_030423
Natural variant1121P → R in NS4. Ref.20
VAR_066033
Natural variant1701K → E in NS4. Ref.15 Ref.19 Ref.20
VAR_066034
Natural variant2521I → T in NS4. Ref.20
Corresponds to variant rs142094234 [ dbSNP | Ensembl ].
VAR_066035
Natural variant2661T → K in NS4. Ref.13 Ref.19 Ref.20
Corresponds to variant rs137852812 [ dbSNP | Ensembl ].
VAR_030424
Natural variant2691M → R in NS4. Ref.13 Ref.14 Ref.20
Corresponds to variant rs137852813 [ dbSNP | Ensembl ].
VAR_030425
Natural variant2691M → T in NS4. Ref.17 Ref.19 Ref.20
VAR_064504
Natural variant3091D → Y in NS4. Ref.13
VAR_030426
Natural variant3371Y → C in NS4. Ref.13
VAR_030427
Natural variant3781T → A in a patient with Noonan syndrome. Ref.19
VAR_066036
Natural variant4221M → V in NS4. Ref.20
VAR_066037
Natural variant4241E → K in NS4. Ref.20
VAR_066038
Natural variant427 – 4304KNID → N in NS4.
VAR_066039
Natural variant432 – 4332Missing in NS4.
VAR_066040
Natural variant4321W → R in NS4. Ref.14 Ref.16 Ref.20
VAR_030428
Natural variant4331E → K in NS4. Ref.14 Ref.19 Ref.20
VAR_030429
Natural variant4341G → K in NS4; requires 2 nucleotide substitutions. Ref.20
VAR_066041
Natural variant4341G → R in NS4. Ref.13 Ref.20
VAR_030430
Natural variant4371I → T in NS4. Ref.20
VAR_066042
Natural variant4411C → Y in NS4. Ref.14 Ref.20
VAR_030431
Natural variant4771Q → R in NS4. Ref.17 Ref.20
VAR_064505
Natural variant4781P → L Found in patients with Noonan syndrome. Ref.20
VAR_066043
Natural variant4781P → R in NS4. Ref.20
VAR_066044
Natural variant4821G → R in NS4. Ref.20
VAR_066045
Natural variant4901L → R in NS4. Ref.20
VAR_066046
Natural variant4971R → 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. Ref.17 Ref.20
VAR_064506
Natural variant5481S → R in NS4. Ref.13 Ref.14 Ref.20
VAR_030432
Natural variant5491T → K in NS4. Ref.20
VAR_066047
Natural variant5501L → P in NS4. Ref.14
VAR_030433
Natural variant5521R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. Ref.13 Ref.14 Ref.19 Ref.20
Corresponds to variant rs137852814 [ dbSNP | Ensembl ].
VAR_030434
Natural variant5521R → K in NS4. Ref.14 Ref.20
VAR_030435
Natural variant5521R → M in NS4. Ref.20
VAR_066048
Natural variant5521R → S in NS4. Ref.14 Ref.20
VAR_030436
Natural variant5521R → T in NS4. Ref.20
VAR_066049
Natural variant554 – 5585LDVTM → K in NS4.
VAR_066050
Natural variant5691L → V. Ref.19 Ref.20
VAR_066051
Natural variant6231F → I in NS4. Ref.18
VAR_066052
Natural variant6551P → L. Ref.13 Ref.14 Ref.19 Ref.20
Corresponds to variant rs56219475 [ dbSNP | Ensembl ].
VAR_030437
Natural variant7021Y → H in NS4. Ref.14 Ref.17
VAR_030438
Natural variant7081A → T. Ref.20
Corresponds to variant rs140811086 [ dbSNP | Ensembl ].
VAR_066053
Natural variant7291W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. Ref.14
VAR_030439
Natural variant7331I → F in NS4. Ref.14 Ref.20
VAR_030440
Natural variant7841I → T in a patient with Noonan syndrome. Ref.20
VAR_066054
Natural variant8461E → K in NS4. Ref.13 Ref.14 Ref.20
VAR_030441
Natural variant8941P → R in NS4. Ref.20
VAR_066055
Natural variant9771Q → R. Ref.14
VAR_030442
Natural variant10111N → S. Ref.20
Corresponds to variant rs8192671 [ dbSNP | Ensembl ].
VAR_066056
Natural variant11311R → K in a patient with Noonan syndrome. Ref.20
Corresponds to variant rs141676532 [ dbSNP | Ensembl ].
VAR_066057
Natural variant11401L → I in a patient with Noonan syndrome. Ref.20
VAR_066058
Natural variant12571T → A in a patient with Noonan syndrome. Ref.20
VAR_066059
Natural variant13201H → R. Ref.14 Ref.20
VAR_030443

Secondary structure

.............................................................................................................................................................. 1333
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q07889 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: C6B99CCA11A8DE45

FASTA1,333152,464
        10         20         30         40         50         60 
MQAQQLPYEF FSEENAPKWR GLLVPALKKV QGQVHPTLES NDDALQYVEE LILQLLNMLC 

        70         80         90        100        110        120 
QAQPRSASDV EERVQKSFPH PIDKWAIADA QSAIEKRKRR NPLSLPVEKI HPLLKEVLGY 

       130        140        150        160        170        180 
KIDHQVSVYI VAVLEYISAD ILKLVGNYVR NIRHYEITKQ DIKVAMCADK VLMDMFHQDV 

       190        200        210        220        230        240 
EDINILSLTD EEPSTSGEQT YYDLVKAFMA EIRQYIRELN LIIKVFREPF VSNSKLFSAN 

       250        260        270        280        290        300 
DVENIFSRIV DIHELSVKLL GHIEDTVEMT DEGSPHPLVG SCFEDLAEEL AFDPYESYAR 

       310        320        330        340        350        360 
DILRPGFHDR FLSQLSKPGA ALYLQSIGEG FKEAVQYVLP RLLLAPVYHC LHYFELLKQL 

       370        380        390        400        410        420 
EEKSEDQEDK ECLKQAITAL LNVQSGMEKI CSKSLAKRRL SESACRFYSQ QMKGKQLAIK 

       430        440        450        460        470        480 
KMNEIQKNID GWEGKDIGQC CNEFIMEGTL TRVGAKHERH IFLFDGLMIC CKSNHGQPRL 

       490        500        510        520        530        540 
PGASNAEYRL KEKFFMRKVQ INDKDDTNEY KHAFEIILKD ENSVIFSAKS AEEKNNWMAA 

       550        560        570        580        590        600 
LISLQYRSTL ERMLDVTMLQ EEKEEQMRLP SADVYRFAEP DSEENIIFEE NMQPKAGIPI 

       610        620        630        640        650        660 
IKAGTVIKLI ERLTYHMYAD PNFVRTFLTT YRSFCKPQEL LSLIIERFEI PEPEPTEADR 

       670        680        690        700        710        720 
IAIENGDQPL SAELKRFRKE YIQPVQLRVL NVCRHWVEHH FYDFERDAYL LQRMEEFIGT 

       730        740        750        760        770        780 
VRGKAMKKWV ESITKIIQRK KIARDNGPGH NITFQSSPPT VEWHISRPGH IETFDLLTLH 

       790        800        810        820        830        840 
PIEIARQLTL LESDLYRAVQ PSELVGSVWT KEDKEINSPN LLKMIRHTTN LTLWFEKCIV 

       850        860        870        880        890        900 
ETENLEERVA VVSRIIEILQ VFQELNNFNG VLEVVSAMNS SPVYRLDHTF EQIPSRQKKI 

       910        920        930        940        950        960 
LEEAHELSED HYKKYLAKLR SINPPCVPFF GIYLTNILKT EEGNPEVLKR HGKELINFSK 

       970        980        990       1000       1010       1020 
RRKVAEITGE IQQYQNQPYC LRVESDIKRF FENLNPMGNS MEKEFTDYLF NKSLEIEPRN 

      1030       1040       1050       1060       1070       1080 
PKPLPRFPKK YSYPLKSPGV RPSNPRPGTM RHPTPLQQEP RKISYSRIPE SETESTASAP 

      1090       1100       1110       1120       1130       1140 
NSPRTPLTPP PASGASSTTD VCSVFDSDHS SPFHSSNDTV FIQVTLPHGP RSASVSSISL 

      1150       1160       1170       1180       1190       1200 
TKGTDEVPVP PPVPPRRRPE SAPAESSPSK IMSKHLDSPP AIPPRQPTSK AYSPRYSISD 

      1210       1220       1230       1240       1250       1260 
RTSISDPPES PPLLPPREPV RTPDVFSSSP LHLQPPPLGK KSDHGNAFFP NSPSPFTPPP 

      1270       1280       1290       1300       1310       1320 
PQTPSPHGTR RHLPSPPLTQ EVDLHSIAGP PVPPRQSTSQ HIPKLPPKTY KREHTHPSMH 

      1330 
RDGPPLLENA HSS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Non-T cell activation linker (NTAL): a transmembrane adaptor protein involved in immunoreceptor signaling."
Brdicka T., Imrich M., Angelisova P., Brdickova N., Horvath O., Spicka J., Hilgert I., Luskova P., Draber P., Novak P., Engels N., Wienands J., Simeoni L., Oesterreicher J., Aguado E., Malissen M., Schraven B., Horejsi V.
J. Exp. Med. 196:1617-1626(2002) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"Germline gain-of-function mutations in SOS1 cause Noonan syndrome."
Roberts A.E., Araki T., Swanson K.D., Montgomery K.T., Schiripo T.A., Joshi V.A., Li L., Yassin Y., Tamburino A.M., Neel B.G., Kucherlapati R.S.
Nat. Genet. 39:70-74(2007) [PubMed] [Europe PMC] [Abstract]
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]"Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome."
Tartaglia M., Pennacchio L.A., Zhao C., Yadav K.K., Fodale V., Sarkozy A., Pandit B., Oishi K., Martinelli S., Schackwitz W., Ustaszewska A., Martin J., Bristow J., Carta C., Lepri F., Neri C., Vasta I., Gibson K. expand/collapse author list , Curry C.J., Lopez Siguero J.P., Digilio M.C., Zampino G., Dallapiccola B., Bar-Sagi D., Gelb B.D.
Nat. Genet. 39:75-79(2007) [PubMed] [Europe PMC] [Abstract]
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]"Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations."
Denayer E., Devriendt K., de Ravel T., Van Buggenhout G., Smeets E., Francois I., Sznajer Y., Craen M., Leventopoulos G., Mutesa L., Vandecasseye W., Massa G., Kayserili H., Sciot R., Fryns J.P., Legius E.
Genes Chromosomes Cancer 49:242-252(2010) [PubMed] [Europe PMC] [Abstract]
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]"SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations."
Lepri F., De Luca A., Stella L., Rossi C., Baldassarre G., Pantaleoni F., Cordeddu V., Williams B.J., Dentici M.L., Caputo V., Venanzi S., Bonaguro M., Kavamura I., Faienza M.F., Pilotta A., Stanzial F., Faravelli F., Gabrielli O. expand/collapse author list , Marino B., Neri G., Silengo M.C., Ferrero G.B., Torrrente I., Selicorni A., Mazzanti L., Digilio M.C., Zampino G., Dallapiccola B., Gelb B.D., Tartaglia M.
Hum. Mutat. 32:760-772(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

GeneReviews
Wikipedia

Son of sevenless entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L13857 mRNA. Translation: AAA35913.1.
AK290228 mRNA. Translation: BAF82917.1.
CH471053 Genomic DNA. Translation: EAX00351.1.
PIRA37488.
RefSeqNP_005624.2. NM_005633.3.
UniGeneHs.709893.
Hs.732497.

3D structure databases

PDBe
RCSB PDB
PDBj
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[»]
ProteinModelPortalQ07889.
SMRQ07889. Positions 6-183, 198-1046.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112537. 46 interactions.
DIPDIP-31802N.
IntActQ07889. 30 interactions.
MINTMINT-106583.
STRING9606.ENSP00000384675.

Chemistry

ChEMBLCHEMBL2079846.

PTM databases

PhosphoSiteQ07889.

Polymorphism databases

DMDM6094322.

Proteomic databases

PaxDbQ07889.
PRIDEQ07889.

Protocols and materials databases

DNASU6654.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000402219; ENSP00000384675; ENSG00000115904.
ENST00000426016; ENSP00000387784; ENSG00000115904.
GeneID6654.
KEGGhsa:6654.
UCSCuc002rrk.4. human.

Organism-specific databases

CTD6654.
GeneCardsGC02M039208.
HGNCHGNC:11187. SOS1.
HPACAB005396.
HPA012613.
MIM135300. phenotype.
182530. gene.
610733. phenotype.
neXtProtNX_Q07889.
Orphanet2024. Hereditary gingival fibromatosis.
648. Noonan syndrome.
PharmGKBPA36024.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG265981.
HOGENOMHOG000013040.
HOVERGENHBG017831.
InParanoidQ07889.
KOK03099.
OMASVFDSDH.
OrthoDBEOG7XSTD0.
PhylomeDBQ07889.
TreeFamTF317296.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_604. Hemostasis.
REACT_6900. Immune System.
SignaLinkQ07889.

Gene expression databases

ArrayExpressQ07889.
BgeeQ07889.
CleanExHS_SOS1.
GenevestigatorQ07889.

Family and domain databases

Gene3D1.10.20.10. 1 hit.
1.10.840.10. 1 hit.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR000219. DH-domain.
IPR009072. Histone-fold.
IPR007125. Histone_core_D.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR008937. Ras_GEF.
IPR023578. Ras_GEF_dom.
IPR001895. RasGRF_CDC25.
[Graphical view]
PANTHERPTHR23113. PTHR23113. 1 hit.
PfamPF00125. Histone. 1 hit.
PF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMSSF47113. SSF47113. 1 hit.
SSF48065. SSF48065. 1 hit.
SSF48366. SSF48366. 1 hit.
PROSITEPS50010. 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]
ProtoNetSearch...

Other

ChiTaRSSOS1. human.
EvolutionaryTraceQ07889.
GeneWikiSOS1.
GenomeRNAi6654.
NextBio25939.
PROQ07889.
SOURCESearch...

Entry information

Entry nameSOS1_HUMAN
AccessionPrimary (citable) accession number: Q07889
Secondary accession number(s): A8K2G3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 158 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM