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Reviewed, UniProtKB/Swiss-Prot Q07889 (SOS1_HUMAN)

Last modified November 25, 2008. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Son of sevenless homolog 1
      Short name=SOS-1
Gene names
Name: SOS1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length1333 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Promotes the exchange of Ras-bound GDP by GTP.

Subunit structure

Interacts with GRB2. Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2.

Tissue specificity

Expressed in gingival tissues.

Involvement in disease

Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:135300]; also designated GINGF1. 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.

Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:610733]. NS4 is an autosomal dominant disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in 1000-2500 live births. Rarely, NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1 mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common.

Sequence similarities

Contains 1 DH (DBL-homology) domain.

Contains 1 N-terminal Ras-GEF domain.

Contains 1 PH domain.

Contains 1 Ras-GEF domain.

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Ontologies

Keywords

   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   Molecular functionGuanine-nucleotide releasing factor
   PTMPhosphoprotein
   Technical term3D-structure

Gene Ontology (GO)

   Biological processregulation of Rho protein signal transduction

Inferred from electronic annotation. Source: InterPro

   Cellular componentcytosol Ref.1

Inferred from Experiment. Source: Reactome

   Molecular functionDNA binding

Inferred from electronic annotation. Source: InterPro

Rho GTPase activator activity Ref.7

Traceable author statement. Source: ProtInc

Rho guanyl-nucleotide exchange factor activity Ref.7

Traceable author statement. Source: ProtInc

protein binding

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13331333Son of sevenless homolog 1
PRO_0000068894

Regions

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

Amino acid modifications

Modified residue10431Phosphoserine
Modified residue10781Phosphoserine By similarity
Modified residue10821Phosphoserine
Modified residue11341Phosphoserine
Modified residue11371Phosphoserine
Modified residue12101Phosphoserine

Natural variations

Natural variant1081E → K in NS4.
VAR_030423
Natural variant2661T → K in NS4.
VAR_030424
Natural variant2691M → R in NS4.
VAR_030425
Natural variant3091D → Y in NS4.
VAR_030426
Natural variant3371Y → C in NS4.
VAR_030427
Natural variant4321W → R in NS4.
VAR_030428
Natural variant4331E → K in NS4.
VAR_030429
Natural variant4341G → R in NS4.
VAR_030430
Natural variant4411C → Y in NS4.
VAR_030431
Natural variant5481S → R in NS4.
VAR_030432
Natural variant5501L → P in NS4.
VAR_030433
Natural variant5521R → G in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation.
VAR_030434
Natural variant5521R → K in NS4.
VAR_030435
Natural variant5521R → S in NS4.
VAR_030436
Natural variant6551P → L
VAR_030437
Natural variant7021Y → H in NS4.
VAR_030438
Natural variant7291W → L in NS4; promotes constitutive RAS activation and enhances ERK activation.
VAR_030439
Natural variant7331I → F in NS4.
VAR_030440
Natural variant8461E → K in NS4.
VAR_030441
Natural variant9771Q → R
VAR_030442
Natural variant13201H → R
VAR_030443

Secondary structure

1 ................................................................................................................................................. 1333
Helix Strand Turn

Details...