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Q07889

- SOS1_HUMAN

UniProt

Q07889 - SOS1_HUMAN

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
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    • History
      Entry version 163 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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.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 Ras GTPase activity Source: GOC
    15. positive regulation of Rho GTPase activity Source: GOC
    16. positive regulation of small GTPase mediated signal transduction Source: Ensembl
    17. Ras protein signal transduction Source: Reactome
    18. regulation of small GTPase mediated signal transduction Source: Reactome
    19. signal transduction Source: ProtInc
    20. small GTPase mediated signal transduction Source: Reactome

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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 – 10781PhosphoserineBy similarity
    Modified residuei1082 – 10821PhosphoserineBy 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.By similarity3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Q5TCZ1-25EBI-297487,EBI-7014859
    CRKP461083EBI-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
    PIK3R1P279863EBI-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. 31 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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ07889.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini200 – 390191DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini444 – 548105PHPROSITE-ProRule annotationAdd
    BLAST
    Domaini597 – 741145N-terminal Ras-GEFPROSITE-ProRule annotationAdd
    BLAST
    Domaini780 – 1019240Ras-GEFPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

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

    Sequence similaritiesi

    Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
    Contains 1 N-terminal Ras-GEF domain.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q07889-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    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
    Isoform 2 (identifier: Q07889-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-57: Missing.
         359-371: QLEEKSEDQEDKE → FPFGDLSRLRDSV
         372-1333: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:314
    Mass (Da):36,073
    Checksum:i6DD097AB322E714D
    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. 1 Publication
    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

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5757Missing in isoform 2. 1 PublicationVSP_056463Add
    BLAST
    Alternative sequencei359 – 37113QLEEK…QEDKE → FPFGDLSRLRDSV in isoform 2. 1 PublicationVSP_056464Add
    BLAST
    Alternative sequencei372 – 1333962Missing in isoform 2. 1 PublicationVSP_056465Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L13857 mRNA. Translation: AAA35913.1.
    AK290228 mRNA. Translation: BAF82917.1.
    AK301960 mRNA. Translation: BAG63374.1.
    AC019171 Genomic DNA. No translation available.
    AC092672 Genomic DNA. No translation available.
    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.
    ENST00000428721; ENSP00000399992; ENSG00000115904.
    GeneIDi6654.
    KEGGihsa:6654.
    UCSCiuc002rrk.4. human.

    Polymorphism databases

    DMDMi6094322.

    Keywords - Coding sequence diversityi

    Alternative splicing, 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 .
    AK301960 mRNA. Translation: BAG63374.1 .
    AC019171 Genomic DNA. No translation available.
    AC092672 Genomic DNA. No translation available.
    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. 31 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 .
    ENST00000428721 ; ENSP00000399992 ; 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

    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] (ISOFORM 1).
      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] (ISOFORMS 1 AND 2).
      Tissue: Testis and Thalamus.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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.
    6. "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.
    7. Cited for: INTERACTION WITH LAT2.
    8. "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.
    9. "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.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "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.
    12. "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.
    13. "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.
    14. Cited for: VARIANTS NS4 LYS-266; ARG-269; TYR-309; CYS-337; ARG-434; ARG-548; GLY-552 AND LYS-846, VARIANT LEU-655.
    15. 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.
    16. "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.
    17. "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.
    18. "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.
    19. "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.
    20. 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.
    21. 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, B4DXG2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 163 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