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Protein

Son of sevenless homolog 1

Gene

SOS1

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

Functioni

Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity).By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115904-MONOMER.
ReactomeiR-HSA-112412. SOS-mediated signalling.
R-HSA-1236382. Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants.
R-HSA-1250196. SHC1 events in ERBB2 signaling.
R-HSA-1250347. SHC1 events in ERBB4 signaling.
R-HSA-1433557. Signaling by SCF-KIT.
R-HSA-1433559. Regulation of KIT signaling.
R-HSA-167044. Signalling to RAS.
R-HSA-179812. GRB2 events in EGFR signaling.
R-HSA-180336. SHC1 events in EGFR signaling.
R-HSA-186763. Downstream signal transduction.
R-HSA-193648. NRAGE signals death through JNK.
R-HSA-194840. Rho GTPase cycle.
R-HSA-1963640. GRB2 events in ERBB2 signaling.
R-HSA-210993. Tie2 Signaling.
R-HSA-2179392. EGFR Transactivation by Gastrin.
R-HSA-2424491. DAP12 signaling.
R-HSA-2428933. SHC-related events triggered by IGF1R.
R-HSA-2730905. Role of LAT2/NTAL/LAB on calcium mobilization.
R-HSA-2871796. FCERI mediated MAPK activation.
R-HSA-2871809. FCERI mediated Ca+2 mobilization.
R-HSA-354194. GRB2:SOS provides linkage to MAPK signaling for Integrins.
R-HSA-375165. NCAM signaling for neurite out-growth.
R-HSA-416482. G alpha (12/13) signalling events.
R-HSA-428540. Activation of Rac.
R-HSA-5637810. Constitutive Signaling by EGFRvIII.
R-HSA-5654688. SHC-mediated cascade:FGFR1.
R-HSA-5654693. FRS-mediated FGFR1 signaling.
R-HSA-5654699. SHC-mediated cascade:FGFR2.
R-HSA-5654700. FRS-mediated FGFR2 signaling.
R-HSA-5654704. SHC-mediated cascade:FGFR3.
R-HSA-5654706. FRS-mediated FGFR3 signaling.
R-HSA-5654712. FRS-mediated FGFR4 signaling.
R-HSA-5654719. SHC-mediated cascade:FGFR4.
R-HSA-5655253. Signaling by FGFR2 in disease.
R-HSA-5655291. Signaling by FGFR4 in disease.
R-HSA-5655302. Signaling by FGFR1 in disease.
R-HSA-5673001. RAF/MAP kinase cascade.
R-HSA-74749. Signal attenuation.
R-HSA-74751. Insulin receptor signalling cascade.
R-HSA-8851805. MET activates RAS signaling.
R-HSA-8853334. Signaling by FGFR3 fusions in cancer.
R-HSA-8853338. Signaling by FGFR3 point mutants in cancer.
R-HSA-8853659. RET signaling.
R-HSA-912526. Interleukin receptor SHC signaling.
R-HSA-983695. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
SignaLinkiQ07889.
SIGNORiQ07889.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:11187. SOS1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Gingival fibromatosis 1 (GGF1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGingival 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.
See also OMIM:135300
Noonan syndrome 4 (NS4)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610733
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066032102P → R in NS4. 1 Publication1
Natural variantiVAR_030423108E → K in NS4. 2 PublicationsCorresponds to variant rs397517164dbSNPEnsembl.1
Natural variantiVAR_066033112P → R in NS4. 1 PublicationCorresponds to variant rs397517166dbSNPEnsembl.1
Natural variantiVAR_066034170K → E in NS4. 3 PublicationsCorresponds to variant rs397517172dbSNPEnsembl.1
Natural variantiVAR_066035252I → T in NS4. 1 PublicationCorresponds to variant rs142094234dbSNPEnsembl.1
Natural variantiVAR_030424266T → K in NS4. 3 PublicationsCorresponds to variant rs137852812dbSNPEnsembl.1
Natural variantiVAR_030425269M → R in NS4. 3 PublicationsCorresponds to variant rs137852813dbSNPEnsembl.1
Natural variantiVAR_064504269M → T in NS4. 3 PublicationsCorresponds to variant rs137852813dbSNPEnsembl.1
Natural variantiVAR_030426309D → Y in NS4. 1 PublicationCorresponds to variant rs397517180dbSNPEnsembl.1
Natural variantiVAR_030427337Y → C in NS4. 1 PublicationCorresponds to variant rs724160007dbSNPEnsembl.1
Natural variantiVAR_066037422M → V in NS4. 1 Publication1
Natural variantiVAR_066038424E → K in NS4. 1 PublicationCorresponds to variant rs730881041dbSNPEnsembl.1
Natural variantiVAR_066039427 – 430KNID → N in NS4. 1 Publication4
Natural variantiVAR_066040432 – 433Missing in NS4. 1 Publication2
Natural variantiVAR_030428432W → R in NS4. 3 PublicationsCorresponds to variant rs267607080dbSNPEnsembl.1
Natural variantiVAR_030429433E → K in NS4. 3 PublicationsCorresponds to variant rs397517147dbSNPEnsembl.1
Natural variantiVAR_066041434G → K in NS4; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs730881048dbSNPEnsembl.1
Natural variantiVAR_030430434G → R in NS4. 2 PublicationsCorresponds to variant rs397517148dbSNPEnsembl.1
Natural variantiVAR_066042437I → T in NS4. 1 PublicationCorresponds to variant rs397517150dbSNPEnsembl.1
Natural variantiVAR_030431441C → Y in NS4. 2 PublicationsCorresponds to variant rs727504295dbSNPEnsembl.1
Natural variantiVAR_064505477Q → R in NS4. 2 PublicationsCorresponds to variant rs730881044dbSNPEnsembl.1
Natural variantiVAR_066044478P → R in NS4. 1 Publication1
Natural variantiVAR_066045482G → R in NS4. 1 Publication1
Natural variantiVAR_066046490L → R in NS4. 1 Publication1
Natural variantiVAR_064506497R → 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 PublicationsCorresponds to variant rs371314838dbSNPEnsembl.1
Natural variantiVAR_030432548S → R in NS4. 3 PublicationsCorresponds to variant rs397517149dbSNPEnsembl.1
Natural variantiVAR_066047549T → K in NS4. 1 PublicationCorresponds to variant rs730881046dbSNPEnsembl.1
Natural variantiVAR_030433550L → P in NS4. 1 PublicationCorresponds to variant rs397517153dbSNPEnsembl.1
Natural variantiVAR_030434552R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. 4 PublicationsCorresponds to variant rs137852814dbSNPEnsembl.1
Natural variantiVAR_030435552R → K in NS4. 2 PublicationsCorresponds to variant rs397517154dbSNPEnsembl.1
Natural variantiVAR_066048552R → M in NS4. 1 Publication1
Natural variantiVAR_030436552R → S in NS4. 2 PublicationsCorresponds to variant rs267607079dbSNPEnsembl.1
Natural variantiVAR_066049552R → T in NS4. 1 PublicationCorresponds to variant rs397517154dbSNPEnsembl.1
Natural variantiVAR_066050554 – 558LDVTM → K in NS4. 1 Publication5
Natural variantiVAR_066052623F → I in NS4. 1 Publication1
Natural variantiVAR_030438702Y → H in NS4. 2 PublicationsCorresponds to variant rs727505381dbSNPEnsembl.1
Natural variantiVAR_030439729W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. 1 Publication1
Natural variantiVAR_030440733I → F in NS4. 2 PublicationsCorresponds to variant rs574088829dbSNPEnsembl.1
Natural variantiVAR_030441846E → K in NS4. 3 PublicationsCorresponds to variant rs397517159dbSNPEnsembl.1
Natural variantiVAR_066055894P → R in NS4. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi282C → R: Increases MAPK3 phosphorylation in response to EGF stimulation. 1 Publication1
Mutagenesisi1134S → A: Loss of phosphorylation, disruption of interaction with YWHAB and YWHAE, and modest increase in the magnitude and duration of EGF-induced MAPK1/3 phosphorylation; when associated with A-1161. 1 Publication1
Mutagenesisi1161S → A: Loss of phosphorylation, disruption of interaction with YWHAB and YWHAE, and modest increase in the magnitude and duration of EGF-induced MAPK1/3 phosphorylation; when associated with A-1134. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6654.
MalaCardsiSOS1.
MIMi135300. phenotype.
610733. phenotype.
OpenTargetsiENSG00000115904.
Orphaneti2024. Hereditary gingival fibromatosis.
648. Noonan syndrome.
PharmGKBiPA36024.

Chemistry databases

ChEMBLiCHEMBL2079846.

Polymorphism and mutation databases

BioMutaiSOS1.
DMDMi6094322.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000688941 – 1333Son of sevenless homolog 1Add BLAST1333

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1078PhosphoserineBy similarity1
Modified residuei1082PhosphoserineCombined sources1
Modified residuei1134Phosphoserine; by RPS6KA3Combined sources1 Publication1
Modified residuei1161Phosphoserine; by RPS6KA31 Publication1
Modified residuei1178PhosphoserineCombined sources1
Modified residuei1210PhosphoserineCombined sources1
Modified residuei1229PhosphoserineCombined sources1
Modified residuei1275PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation at Ser-1134 and Ser-1161 by RPS6KA3 create YWHAB and YWHAE binding sites and which contribute to the negative regulation of EGF-induced MAPK1/3 phosphorylation.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ07889.
MaxQBiQ07889.
PaxDbiQ07889.
PeptideAtlasiQ07889.
PRIDEiQ07889.

PTM databases

iPTMnetiQ07889.
PhosphoSitePlusiQ07889.

Expressioni

Tissue specificityi

Expressed in gingival tissues.1 Publication

Gene expression databases

BgeeiENSG00000115904.
CleanExiHS_SOS1.
ExpressionAtlasiQ07889. baseline and differential.
GenevisibleiQ07889. HS.

Organism-specific databases

HPAiCAB005396.
HPA012613.

Interactioni

Subunit structurei

Interacts (via C-terminus) with GRB2 (via SH3 domain) (PubMed:8493579, PubMed:7664271). Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains) (PubMed:7664271). Interacts with phosphorylated LAT2 (PubMed:12486104). Interacts with NCK1 and NCK2 (PubMed:10026169). Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts (Ser-1134 and Ser-1161 phosphorylated form) with YWHAB and YWHAE (PubMed:22827337).By similarity5 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. 48 interactors.
DIPiDIP-31802N.
IntActiQ07889. 31 interactors.
MINTiMINT-106583.
STRINGi9606.ENSP00000384675.

Chemistry databases

BindingDBiQ07889.

Structurei

Secondary structure

11333
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni13 – 15Combined sources3
Beta strandi19 – 23Combined sources5
Helixi24 – 34Combined sources11
Beta strandi36 – 39Combined sources4
Helixi42 – 61Combined sources20
Helixi67 – 77Combined sources11
Helixi82 – 94Combined sources13
Beta strandi100 – 102Combined sources3
Helixi107 – 118Combined sources12
Helixi124 – 151Combined sources28
Helixi159 – 168Combined sources10
Helixi172 – 175Combined sources4
Helixi201 – 224Combined sources24
Turni225 – 227Combined sources3
Helixi228 – 232Combined sources5
Turni234 – 236Combined sources3
Helixi239 – 246Combined sources8
Helixi249 – 268Combined sources20
Beta strandi274 – 276Combined sources3
Helixi280 – 288Combined sources9
Turni289 – 292Combined sources4
Helixi293 – 302Combined sources10
Helixi307 – 316Combined sources10
Helixi320 – 327Combined sources8
Helixi331 – 337Combined sources7
Helixi339 – 342Combined sources4
Helixi345 – 363Combined sources19
Helixi367 – 379Combined sources13
Helixi381 – 392Combined sources12
Helixi394 – 402Combined sources9
Helixi420 – 426Combined sources7
Beta strandi429 – 431Combined sources3
Helixi437 – 439Combined sources3
Beta strandi444 – 452Combined sources9
Turni453 – 456Combined sources4
Beta strandi459 – 473Combined sources15
Helixi480 – 482Combined sources3
Beta strandi487 – 496Combined sources10
Beta strandi500 – 503Combined sources4
Beta strandi507 – 509Combined sources3
Beta strandi512 – 516Combined sources5
Turni519 – 521Combined sources3
Beta strandi524 – 527Combined sources4
Helixi531 – 545Combined sources15
Turni546 – 549Combined sources4
Turni572 – 574Combined sources3
Helixi576 – 578Combined sources3
Turni583 – 585Combined sources3
Beta strandi586 – 588Combined sources3
Beta strandi590 – 592Combined sources3
Turni594 – 596Combined sources3
Beta strandi601 – 604Combined sources4
Helixi606 – 613Combined sources8
Beta strandi616 – 618Combined sources3
Helixi621 – 630Combined sources10
Helixi631 – 633Combined sources3
Helixi637 – 648Combined sources12
Helixi657 – 664Combined sources8
Beta strandi665 – 667Combined sources3
Helixi672 – 680Combined sources9
Helixi682 – 699Combined sources18
Helixi702 – 706Combined sources5
Helixi708 – 718Combined sources11
Turni724 – 726Combined sources3
Helixi727 – 742Combined sources16
Beta strandi764 – 766Combined sources3
Helixi771 – 773Combined sources3
Turni776 – 778Combined sources3
Helixi781 – 798Combined sources18
Helixi801 – 803Combined sources3
Helixi805 – 810Combined sources6
Helixi814 – 817Combined sources4
Helixi819 – 840Combined sources22
Helixi845 – 864Combined sources20
Helixi868 – 878Combined sources11
Helixi881 – 884Combined sources4
Helixi887 – 892Combined sources6
Helixi895 – 920Combined sources26
Helixi931 – 942Combined sources12
Beta strandi946 – 950Combined sources5
Beta strandi953 – 957Combined sources5
Helixi958 – 971Combined sources14
Helixi972 – 974Combined sources3
Helixi985 – 992Combined sources8
Turni996 – 999Combined sources4
Helixi1002 – 1016Combined sources15
Beta strandi1020 – 1022Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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[»]
4URUX-ray2.83S564-1049[»]
4URVX-ray2.58S564-1049[»]
4URWX-ray2.76S564-1049[»]
4URXX-ray2.49S564-1049[»]
4URYX-ray2.47S564-1049[»]
4URZX-ray2.24S564-1049[»]
4US0X-ray2.17S564-1049[»]
4US1X-ray2.65S564-1049[»]
4US2X-ray2.48S564-1049[»]
ProteinModelPortaliQ07889.
SMRiQ07889.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ07889.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini200 – 390DHPROSITE-ProRule annotationAdd BLAST191
Domaini444 – 548PHPROSITE-ProRule annotationAdd BLAST105
Domaini597 – 741N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST145
Domaini780 – 1019Ras-GEFPROSITE-ProRule annotationAdd BLAST240

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1258 – 1261Poly-Pro4

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

eggNOGiKOG3417. Eukaryota.
ENOG410XR96. LUCA.
GeneTreeiENSGT00860000133664.
HOGENOMiHOG000013040.
HOVERGENiHBG017831.
InParanoidiQ07889.
KOiK03099.
OMAiMATNMEY.
OrthoDBiEOG091G04UL.
PhylomeDBiQ07889.
TreeFamiTF317296.

Family and domain databases

CDDicd00155. RasGEF. 1 hit.
cd06224. REM. 1 hit.
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_H2A/H2B/H3.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
[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.
SSF50729. SSF50729. 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. AlignAdd to basket

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

        10         20         30         40         50
MQAQQLPYEF FSEENAPKWR GLLVPALKKV QGQVHPTLES NDDALQYVEE
60 70 80 90 100
LILQLLNMLC QAQPRSASDV EERVQKSFPH PIDKWAIADA QSAIEKRKRR
110 120 130 140 150
NPLSLPVEKI HPLLKEVLGY KIDHQVSVYI VAVLEYISAD ILKLVGNYVR
160 170 180 190 200
NIRHYEITKQ DIKVAMCADK VLMDMFHQDV EDINILSLTD EEPSTSGEQT
210 220 230 240 250
YYDLVKAFMA EIRQYIRELN LIIKVFREPF VSNSKLFSAN DVENIFSRIV
260 270 280 290 300
DIHELSVKLL GHIEDTVEMT DEGSPHPLVG SCFEDLAEEL AFDPYESYAR
310 320 330 340 350
DILRPGFHDR FLSQLSKPGA ALYLQSIGEG FKEAVQYVLP RLLLAPVYHC
360 370 380 390 400
LHYFELLKQL EEKSEDQEDK ECLKQAITAL LNVQSGMEKI CSKSLAKRRL
410 420 430 440 450
SESACRFYSQ QMKGKQLAIK KMNEIQKNID GWEGKDIGQC CNEFIMEGTL
460 470 480 490 500
TRVGAKHERH IFLFDGLMIC CKSNHGQPRL PGASNAEYRL KEKFFMRKVQ
510 520 530 540 550
INDKDDTNEY KHAFEIILKD ENSVIFSAKS AEEKNNWMAA LISLQYRSTL
560 570 580 590 600
ERMLDVTMLQ EEKEEQMRLP SADVYRFAEP DSEENIIFEE NMQPKAGIPI
610 620 630 640 650
IKAGTVIKLI ERLTYHMYAD PNFVRTFLTT YRSFCKPQEL LSLIIERFEI
660 670 680 690 700
PEPEPTEADR IAIENGDQPL SAELKRFRKE YIQPVQLRVL NVCRHWVEHH
710 720 730 740 750
FYDFERDAYL LQRMEEFIGT VRGKAMKKWV ESITKIIQRK KIARDNGPGH
760 770 780 790 800
NITFQSSPPT VEWHISRPGH IETFDLLTLH PIEIARQLTL LESDLYRAVQ
810 820 830 840 850
PSELVGSVWT KEDKEINSPN LLKMIRHTTN LTLWFEKCIV ETENLEERVA
860 870 880 890 900
VVSRIIEILQ VFQELNNFNG VLEVVSAMNS SPVYRLDHTF EQIPSRQKKI
910 920 930 940 950
LEEAHELSED HYKKYLAKLR SINPPCVPFF GIYLTNILKT EEGNPEVLKR
960 970 980 990 1000
HGKELINFSK RRKVAEITGE IQQYQNQPYC LRVESDIKRF FENLNPMGNS
1010 1020 1030 1040 1050
MEKEFTDYLF NKSLEIEPRN PKPLPRFPKK YSYPLKSPGV RPSNPRPGTM
1060 1070 1080 1090 1100
RHPTPLQQEP RKISYSRIPE SETESTASAP NSPRTPLTPP PASGASSTTD
1110 1120 1130 1140 1150
VCSVFDSDHS SPFHSSNDTV FIQVTLPHGP RSASVSSISL TKGTDEVPVP
1160 1170 1180 1190 1200
PPVPPRRRPE SAPAESSPSK IMSKHLDSPP AIPPRQPTSK AYSPRYSISD
1210 1220 1230 1240 1250
RTSISDPPES PPLLPPREPV RTPDVFSSSP LHLQPPPLGK KSDHGNAFFP
1260 1270 1280 1290 1300
NSPSPFTPPP PQTPSPHGTR RHLPSPPLTQ EVDLHSIAGP PVPPRQSTSQ
1310 1320 1330
HIPKLPPKTY KREHTHPSMH RDGPPLLENA HSS
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.
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Length:314
Mass (Da):36,073
Checksum:i6DD097AB322E714D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06603137T → A in a patient with Noonan syndrome. 1 PublicationCorresponds to variant rs150565592dbSNPEnsembl.1
Natural variantiVAR_066032102P → R in NS4. 1 Publication1
Natural variantiVAR_030423108E → K in NS4. 2 PublicationsCorresponds to variant rs397517164dbSNPEnsembl.1
Natural variantiVAR_066033112P → R in NS4. 1 PublicationCorresponds to variant rs397517166dbSNPEnsembl.1
Natural variantiVAR_066034170K → E in NS4. 3 PublicationsCorresponds to variant rs397517172dbSNPEnsembl.1
Natural variantiVAR_066035252I → T in NS4. 1 PublicationCorresponds to variant rs142094234dbSNPEnsembl.1
Natural variantiVAR_030424266T → K in NS4. 3 PublicationsCorresponds to variant rs137852812dbSNPEnsembl.1
Natural variantiVAR_030425269M → R in NS4. 3 PublicationsCorresponds to variant rs137852813dbSNPEnsembl.1
Natural variantiVAR_064504269M → T in NS4. 3 PublicationsCorresponds to variant rs137852813dbSNPEnsembl.1
Natural variantiVAR_030426309D → Y in NS4. 1 PublicationCorresponds to variant rs397517180dbSNPEnsembl.1
Natural variantiVAR_030427337Y → C in NS4. 1 PublicationCorresponds to variant rs724160007dbSNPEnsembl.1
Natural variantiVAR_066036378T → A in a patient with Noonan syndrome. 1 PublicationCorresponds to variant rs397517146dbSNPEnsembl.1
Natural variantiVAR_066037422M → V in NS4. 1 Publication1
Natural variantiVAR_066038424E → K in NS4. 1 PublicationCorresponds to variant rs730881041dbSNPEnsembl.1
Natural variantiVAR_066039427 – 430KNID → N in NS4. 1 Publication4
Natural variantiVAR_066040432 – 433Missing in NS4. 1 Publication2
Natural variantiVAR_030428432W → R in NS4. 3 PublicationsCorresponds to variant rs267607080dbSNPEnsembl.1
Natural variantiVAR_030429433E → K in NS4. 3 PublicationsCorresponds to variant rs397517147dbSNPEnsembl.1
Natural variantiVAR_066041434G → K in NS4; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs730881048dbSNPEnsembl.1
Natural variantiVAR_030430434G → R in NS4. 2 PublicationsCorresponds to variant rs397517148dbSNPEnsembl.1
Natural variantiVAR_066042437I → T in NS4. 1 PublicationCorresponds to variant rs397517150dbSNPEnsembl.1
Natural variantiVAR_030431441C → Y in NS4. 2 PublicationsCorresponds to variant rs727504295dbSNPEnsembl.1
Natural variantiVAR_064505477Q → R in NS4. 2 PublicationsCorresponds to variant rs730881044dbSNPEnsembl.1
Natural variantiVAR_066043478P → L Found in patients with Noonan syndrome. 1 Publication1
Natural variantiVAR_066044478P → R in NS4. 1 Publication1
Natural variantiVAR_066045482G → R in NS4. 1 Publication1
Natural variantiVAR_066046490L → R in NS4. 1 Publication1
Natural variantiVAR_064506497R → 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 PublicationsCorresponds to variant rs371314838dbSNPEnsembl.1
Natural variantiVAR_030432548S → R in NS4. 3 PublicationsCorresponds to variant rs397517149dbSNPEnsembl.1
Natural variantiVAR_066047549T → K in NS4. 1 PublicationCorresponds to variant rs730881046dbSNPEnsembl.1
Natural variantiVAR_030433550L → P in NS4. 1 PublicationCorresponds to variant rs397517153dbSNPEnsembl.1
Natural variantiVAR_030434552R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. 4 PublicationsCorresponds to variant rs137852814dbSNPEnsembl.1
Natural variantiVAR_030435552R → K in NS4. 2 PublicationsCorresponds to variant rs397517154dbSNPEnsembl.1
Natural variantiVAR_066048552R → M in NS4. 1 Publication1
Natural variantiVAR_030436552R → S in NS4. 2 PublicationsCorresponds to variant rs267607079dbSNPEnsembl.1
Natural variantiVAR_066049552R → T in NS4. 1 PublicationCorresponds to variant rs397517154dbSNPEnsembl.1
Natural variantiVAR_066050554 – 558LDVTM → K in NS4. 1 Publication5
Natural variantiVAR_066051569L → V.2 PublicationsCorresponds to variant rs200786705dbSNPEnsembl.1
Natural variantiVAR_066052623F → I in NS4. 1 Publication1
Natural variantiVAR_030437655P → L.4 PublicationsCorresponds to variant rs56219475dbSNPEnsembl.1
Natural variantiVAR_030438702Y → H in NS4. 2 PublicationsCorresponds to variant rs727505381dbSNPEnsembl.1
Natural variantiVAR_066053708A → T.1 PublicationCorresponds to variant rs140811086dbSNPEnsembl.1
Natural variantiVAR_030439729W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. 1 Publication1
Natural variantiVAR_030440733I → F in NS4. 2 PublicationsCorresponds to variant rs574088829dbSNPEnsembl.1
Natural variantiVAR_066054784I → T in a patient with Noonan syndrome. 1 Publication1
Natural variantiVAR_030441846E → K in NS4. 3 PublicationsCorresponds to variant rs397517159dbSNPEnsembl.1
Natural variantiVAR_066055894P → R in NS4. 1 Publication1
Natural variantiVAR_030442977Q → R.1 Publication1
Natural variantiVAR_0660561011N → S.1 PublicationCorresponds to variant rs8192671dbSNPEnsembl.1
Natural variantiVAR_0660571131R → K in a patient with Noonan syndrome. 1 PublicationCorresponds to variant rs141676532dbSNPEnsembl.1
Natural variantiVAR_0660581140L → I in a patient with Noonan syndrome. 1 PublicationCorresponds to variant rs375550588dbSNPEnsembl.1
Natural variantiVAR_0660591257T → A in a patient with Noonan syndrome. 1 PublicationCorresponds to variant rs553805862dbSNPEnsembl.1
Natural variantiVAR_0304431320H → R.2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0564631 – 57Missing in isoform 2. 1 Publication