Q07889 (SOS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Son of sevenless homolog 1
Short name=SOS-1

Gene names

Name:

SOS1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1333 AA.
Sequence status	Complete.
Protein existence	Evidence 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.14
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.14 Noonan syndrome 4 (NS4) [MIM:610733]: A syndrome characterized by facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears. Other features can include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, deafness, motor delay and variable intellectual deficits. Some patients with Noonan syndrome type 1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villomoduolar synovitis (PVNS) when occurring in the jaw or joints. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22
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 diversity	Polymorphism
Disease	Disease mutation
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Ras protein signal transduction Traceable author statement. Source: Reactome apoptotic process Traceable author statement. Source: Reactome axon guidance 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 insulin receptor signaling pathway Traceable author statement. Source: Reactome leukocyte migration Traceable author statement. Source: Reactome nerve growth factor receptor signaling pathway Traceable author statement. Source: Reactome platelet activation Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome plasma membrane Traceable author statement. Source: Reactome
Molecular_function	DNA binding Inferred from electronic annotation. Source: InterPro Rho GTPase activator activity Traceable author statement Ref.13. Source: ProtInc Rho guanyl-nucleotide exchange factor activity Traceable author statement Ref.13. Source: ProtInc phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CRK	P46108	2	EBI-297487,EBI-886
GRB2	P62993	9	EBI-297487,EBI-401755
HRAS	P01112	6	EBI-297487,EBI-350145
NCK1	P16333	5	EBI-297487,EBI-389883
PACSIN3	Q9UKS6	2	EBI-297487,EBI-77926
PIK3R1	P27986	2	EBI-297487,EBI-79464
PLCG1	P19174	2	EBI-297487,EBI-79387
SNX9	Q9Y5X1	2	EBI-297487,EBI-77848

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1333

1333

Son of sevenless homolog 1

PRO_0000068894

Regions

Domain

200 – 390

191

DH

Domain

444 – 548

105

PH

Domain

597 – 741

145

N-terminal Ras-GEF

Domain

780 – 1019

240

Ras-GEF

Compositional bias

1258 – 1261

4

Poly-Pro

Amino acid modifications

Modified residue

1043

1

Phosphoserine

Modified residue

1078

1

Phosphoserine By similarity

Modified residue

1082

1

Phosphoserine By similarity

Modified residue

1134

1

Phosphoserine Ref.7 Ref.11

Natural variations

Natural variant

37

1

T → A in a patient with Noonan syndrome. Ref.22
Corresponds to variant rs150565592 [ dbSNP | Ensembl ].

VAR_066031

Natural variant

102

1

P → R in NS4. Ref.21

VAR_066032

Natural variant

108

1

E → K in NS4. Ref.16 Ref.22

VAR_030423

Natural variant

112

1

P → R in NS4. Ref.22

VAR_066033

Natural variant

170

1

K → E in NS4. Ref.17 Ref.21 Ref.22

VAR_066034

Natural variant

252

1

I → T in NS4. Ref.22
Corresponds to variant rs142094234 [ dbSNP | Ensembl ].

VAR_066035

Natural variant

266

1

T → K in NS4. Ref.15 Ref.21 Ref.22
Corresponds to variant rs137852812 [ dbSNP | Ensembl ].

VAR_030424

Natural variant

269

1

M → R in NS4. Ref.15 Ref.16 Ref.22
Corresponds to variant rs137852813 [ dbSNP | Ensembl ].

VAR_030425

Natural variant

269

1

M → T in NS4. Ref.19 Ref.21 Ref.22

VAR_064504

Natural variant

309

1

D → Y in NS4. Ref.15

VAR_030426

Natural variant

337

1

Y → C in NS4. Ref.15

VAR_030427

Natural variant

378

1

T → A in a patient with Noonan syndrome. Ref.21

VAR_066036

Natural variant

422

1

M → V in NS4. Ref.22

VAR_066037

Natural variant

424

1

E → K in NS4. Ref.22

VAR_066038

Natural variant

427 – 430

4

KNID → N in NS4.

VAR_066039

Natural variant

432 – 433

2

Missing in NS4.

VAR_066040

Natural variant

432

1

W → R in NS4. Ref.16 Ref.18 Ref.22

VAR_030428

Natural variant

433

1

E → K in NS4. Ref.16 Ref.21 Ref.22

VAR_030429

Natural variant

434

1

G → K in NS4; requires 2 nucleotide substitutions. Ref.22

VAR_066041

Natural variant

434

1

G → R in NS4. Ref.15 Ref.22

VAR_030430

Natural variant

437

1

I → T in NS4. Ref.22

VAR_066042

Natural variant

441

1

C → Y in NS4. Ref.16 Ref.22

VAR_030431

Natural variant

477

1

Q → R in NS4. Ref.19 Ref.22

VAR_064505

Natural variant

478

1

P → L Found in patients with Noonan syndrome. Ref.22

VAR_066043

Natural variant

478

1

P → R in NS4. Ref.22

VAR_066044

Natural variant

482

1

G → R in NS4. Ref.22

VAR_066045

Natural variant

490

1

L → R in NS4. Ref.22

VAR_066046

Natural variant

497

1

R → 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.19 Ref.22

VAR_064506

Natural variant

548

1

S → R in NS4. Ref.15 Ref.16 Ref.22

VAR_030432

Natural variant

549

1

T → K in NS4. Ref.22

VAR_066047

Natural variant

550

1

L → P in NS4. Ref.16

VAR_030433

Natural variant

552

1

R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation. Ref.15 Ref.16 Ref.21 Ref.22
Corresponds to variant rs137852814 [ dbSNP | Ensembl ].

VAR_030434

Natural variant

552

1

R → K in NS4. Ref.16 Ref.22

VAR_030435

Natural variant

552

1

R → M in NS4. Ref.22

VAR_066048

Natural variant

552

1

R → S in NS4. Ref.16 Ref.22

VAR_030436

Natural variant

552

1

R → T in NS4. Ref.22

VAR_066049

Natural variant

554 – 558

5

LDVTM → K in NS4.

VAR_066050

Natural variant

569

1

L → V. Ref.21 Ref.22

VAR_066051

Natural variant

623

1

F → I in NS4. Ref.20

VAR_066052

Natural variant

655

1

P → L. Ref.15 Ref.16 Ref.21 Ref.22
Corresponds to variant rs56219475 [ dbSNP | Ensembl ].

VAR_030437

Natural variant

702

1

Y → H in NS4. Ref.16 Ref.19

VAR_030438

Natural variant

708

1

A → T. Ref.22
Corresponds to variant rs140811086 [ dbSNP | Ensembl ].

VAR_066053

Natural variant

729

1

W → L in NS4; promotes constitutive RAS activation and enhances ERK activation. Ref.16

VAR_030439

Natural variant

733

1

I → F in NS4. Ref.16 Ref.22

VAR_030440

Natural variant

784

1

I → T in a patient with Noonan syndrome. Ref.22

VAR_066054

Natural variant

846

1

E → K in NS4. Ref.15 Ref.16 Ref.22

VAR_030441

Natural variant

894

1

P → R in NS4. Ref.22

VAR_066055

Natural variant

977

1

Q → R. Ref.16

VAR_030442

Natural variant

1011

1

N → S. Ref.22
Corresponds to variant rs8192671 [ dbSNP | Ensembl ].

VAR_066056

Natural variant

1131

1

R → K in a patient with Noonan syndrome. Ref.22
Corresponds to variant rs141676532 [ dbSNP | Ensembl ].

VAR_066057

Natural variant

1140

1

L → I in a patient with Noonan syndrome. Ref.22

VAR_066058

Natural variant

1257

1

T → A in a patient with Noonan syndrome. Ref.22

VAR_066059

Natural variant

1320

1

H → R. Ref.16 Ref.22

VAR_030443

Secondary structure

1

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1333

Helix Strand Turn

Details...

Turn

13 – 15

3

Beta strand

19 – 23

5

Helix

24 – 34

11

Beta strand

36 – 39

4

Helix

42 – 61

20

Helix

67 – 77

11

Helix

82 – 94

13

Beta strand

100 – 102

3

Helix

107 – 118

12

Helix

124 – 151

28

Helix

159 – 168

10

Helix

172 – 175

4

Helix

201 – 224

24

Turn

225 – 227

3

Helix

228 – 232

5

Turn

234 – 236

3

Helix

239 – 246

8

Helix

249 – 268

20

Beta strand

274 – 276

3

Helix

280 – 288

9

Turn

289 – 292

4

Helix

293 – 302

10

Helix

307 – 316

10

Helix

320 – 327

8

Helix

331 – 337

7

Helix

339 – 342

4

Helix

345 – 363

19

Helix

367 – 379

13

Helix

381 – 392

12

Helix

394 – 402

9

Helix

420 – 426

7

Beta strand

429 – 431

3

Helix

437 – 439

3

Beta strand

444 – 452

9

Turn

453 – 456

4

Beta strand

459 – 473

15

Helix

480 – 482

3

Beta strand

487 – 496

10

Beta strand

500 – 503

4

Beta strand

507 – 509

3

Beta strand

512 – 516

5

Turn

519 – 521

3

Beta strand

524 – 527

4

Helix

531 – 545

15

Turn

546 – 549

4

Turn

572 – 574

3

Helix

576 – 578

3

Turn

583 – 585

3

Beta strand

586 – 588

3

Beta strand

590 – 592

3

Beta strand

601 – 604

4

Helix

606 – 613

8

Beta strand

616 – 618

3

Helix

621 – 630

10

Helix

631 – 633

3

Helix

637 – 648

12

Helix

657 – 664

8

Beta strand

665 – 667

3

Helix

672 – 680

9

Helix

682 – 699

18

Helix

702 – 706

5

Helix

708 – 718

11

Turn

724 – 726

3

Helix

727 – 742

16

Beta strand

764 – 766

3

Helix

771 – 773

3

Turn

776 – 778

3

Helix

781 – 798

18

Helix

801 – 803

3

Helix

805 – 810

6

Helix

814 – 817

4

Helix

819 – 840

22

Helix

845 – 864

20

Helix

868 – 878

11

Helix

881 – 884

4

Helix

887 – 892

6

Helix

895 – 920

26

Helix

931 – 942

12

Beta strand

946 – 950

5

Beta strand

953 – 957

5

Helix

958 – 971

14

Helix

972 – 974

3

Helix

985 – 992

8

Turn

996 – 999

4

Helix

1002 – 1016

15

Beta strand

1020 – 1022

3

Sequences

	Sequence		Length	Mass (Da)
	Q07889 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: C6B99CCA11A8DE45	FASTA	1,333	152,464
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1134, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[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]	"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].
[11]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1134, MASS SPECTROMETRY.
[12]	"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.
[13]	"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.
[14]	"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.
[15]	"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.
[16]	"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. , 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.
[17]	"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.
[18]	"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.
[19]	"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.
[20]	"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.
[21]	"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.
[22]	"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. , 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.

IPI

IPI00020131.

PIR

A37488.

RefSeq

NP_005624.2. NM_005633.3.

UniGene

Hs.709893.
Hs.732497.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q07889.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-31802N.

IntAct

Q07889. 22 interactions.

MINT

MINT-106583.

STRING

9606.ENSP00000384675.

PTM databases

PhosphoSite

Q07889.

Polymorphism databases

DMDM

6094322.

Proteomic databases

PaxDb

Q07889.

PRIDE

Q07889.

Protocols and materials databases

DNASU

6654.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000402219; ENSP00000384675; ENSG00000115904.
ENST00000426016; ENSP00000387784; ENSG00000115904.

GeneID

6654.

KEGG

hsa:6654.

UCSC

uc002rrk.4. human.

Organism-specific databases

CTD

6654.

GeneCards

GC02M039208.

HGNC

HGNC:11187. SOS1.

HPA

CAB005396.
HPA012613.

MIM

135300. phenotype.
182530. gene.
610733. phenotype.

neXtProt

NX_Q07889.

Orphanet

2024. Autosomal dominant gingival fibromatosis.
648. Noonan syndrome.

PharmGKB

PA36024.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG265981.

HOGENOM

HOG000013040.

HOVERGEN

HBG017831.

InParanoid

Q07889.

KO

K03099.

OMA

NEYKHAF.

OrthoDB

EOG4J9MZ2.

PhylomeDB

Q07889.

Enzyme and pathway databases

Pathway_Interaction_DB

bcr_5pathway. BCR signaling pathway.
pi3kcipathway. Class I PI3K signaling events.
endothelinpathway. Endothelins.
epopathway. EPO signaling pathway.
fcer1pathway. Fc-epsilon receptor I signaling in mast cells.
fgf_pathway. FGF signaling pathway.
igf1_pathway. IGF1 pathway.
il2_pi3kpathway. IL2 signaling events mediated by PI3K.
il2_stat5pathway. IL2 signaling events mediated by STAT5.
il2_1pathway. IL2-mediated signaling events.
il6_7pathway. IL6-mediated signaling events.
insulin_pathway. Insulin Pathway.
trkrpathway. Neurotrophic factor-mediated Trk receptor signaling.
pdgfrapathway. PDGFR-alpha signaling pathway.
pdgfrbpathway. PDGFR-beta signaling pathway.
er_nongenomic_pathway. Plasma membrane estrogen receptor signaling.
met_pathway. Signaling events activated by Hepatocyte Growth Factor Receptor (c-Met).
kitpathway. Signaling events mediated by Stem cell factor receptor (c-Kit).
vegfr1_2_pathway. Signaling events mediated by VEGFR1 and VEGFR2.
ret_pathway. Signaling events regulated by Ret tyrosine kinase.
tcrpathway. TCR signaling in naive CD4+ T cells.
cd8tcrpathway. TCR signaling in naive CD8+ T cells.
tgfbrpathway. TGF-beta receptor signaling.
pi3kplctrkpathway. Trk receptor signaling mediated by PI3K and PLC-gamma.
lymphangiogenesis_pathway. VEGFR3 signaling in lymphatic endothelium.

Reactome

REACT_111045. Developmental Biology.
REACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_604. Hemostasis.
REACT_6900. Immune System.

Gene expression databases

ArrayExpress

Q07889.

Bgee

Q07889.

CleanEx

HS_SOS1.

Genevestigator

Q07889.

GermOnline

ENSG00000115904. Homo sapiens.

Family and domain databases

Gene3D

1.10.20.10. 1 hit.
1.10.840.10. 1 hit.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.

InterPro

IPR000219. 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.
IPR015759. Sos.
[Graphical view]

PANTHER

PTHR23113. PTHR23113. 1 hit.
PTHR23113:SF47. PTHR23113:SF47. 1 hit.

Pfam

PF00125. Histone. 1 hit.
PF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]

SMART

SM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]

SUPFAM

SSF48065. DH-domain. 1 hit.
SSF47113. Histone-fold. 1 hit.
SSF48366. Ras_GEF. 1 hit.

PROSITE

PS00741. DH_1. False negative.
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]

ProtoNet

Search...

Other

ChiTaRS

SOS1. human.

EvolutionaryTrace

Q07889.

GenomeRNAi

6654.

NextBio

25939.

SOURCE

Search...

Entry information

Entry name

SOS1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 148 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.