Son of sevenless homolog 1 is a protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 that in humans is encoded by the SOS1 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

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Recent studies also show that mutations in Sos1 can cause Noonan syndrome

Noonan syndrome

Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...

 and hereditary gingival fibromatosis type 1. Noonan syndrome has also been shown to be caused by mutations in KRAS

KRAS

GTPase KRas also known as V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog and KRAS, is a protein that in humans is encoded by the KRAS gene. Like other members of the Ras family, the KRAS protein is a GTPase and is an early player in many signal transduction pathways...

 and PTPN11

PTPN11

Tyrosine-protein phosphatase non-receptor type 11 also known as protein-tyrosine phosphatase 1D or protein-tyrosine phosphatase 2C is an enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase Shp2.PTPN11 is a member of the protein tyrosine phosphatase ...

 genes. activators of the MAP kinase pathway.

Interactions

SOS1 has been shown to interact

Protein-protein interaction

Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...

 with PTPN11

PTPN11

Tyrosine-protein phosphatase non-receptor type 11 also known as protein-tyrosine phosphatase 1D or protein-tyrosine phosphatase 2C is an enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase Shp2.PTPN11 is a member of the protein tyrosine phosphatase ...

, PLCG1

PLCG1

Phospholipase C, gamma 1, also known as PLCG1, is a protein that in humans is encoded by the PLCG1 gene.-Function:The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate...

, NCK1

NCK1

Cytoplasmic protein NCK1 is a protein that in humans is encoded by the NCK1 gene.-Interactions:NCK1 has been shown to interact with DNM1, EIF2B2, KHDRBS1, Lymphocyte cytosolic protein 2, EPH receptor B1, SOCS7, MINK1, MAP4K1, MAP4K4, Abl gene, WIPF1, RRAS, Wiskott-Aldrich syndrome protein,...

, MUC1

MUC1

Mucin 1, cell surface associated or polymorphic epithelial mucin is a mucin encoded by the MUC1 gene in humans. MUC1 is a proteoglycan with extensive O-linked glycosylation of its extracellular domain. Mucins line the apical surface of epithelial cells in the lungs, stomach, intestines, eyes and...

, Grb2

Grb2

Growth factor receptor-bound protein 2 also known as Grb2 is an adaptor protein involved in signal transduction/cell communication. In humans, the GRB2 protein is encoded by the GRB2 gene....

, ITSN1

ITSN1

Intersectin-1 is a protein that, in humans, is encoded by the ITSN1 gene.-Interactions:ITSN1 has been shown to interact with SNAP-25, SOS1, SCAMP1 and CDC42.-Further reading:...

, Epidermal growth factor receptor

Epidermal growth factor receptor

The epidermal growth factor receptor is the cell-surface receptor for members of the epidermal growth factor family of extracellular protein ligands...

, FRS2

FRS2

Fibroblast growth factor receptor substrate 2 is a protein that in humans is encoded by the FRS2 gene.-Interactions:FRS2 has been shown to interact with PRKCI, Grb2, PTPN11, Fibroblast growth factor receptor 1, TrkA, Cbl gene and SOS1....

, BCR gene

BCR gene

The BCR gene is one of the two genes in the bcr-abl complex, which is associated with the Philadelphia chromosome.-Pathology:...

, EPS8

EPS8

Epidermal growth factor receptor kinase substrate 8 is an enzyme that in humans is encoded by the EPS8 gene.-Interactions:EPS8 has been shown to interact with BAIAP2, SHB, Src, SOS1, DVL1, SHC1 and ABI1.-Further reading:...

, SH3KBP1

SH3KBP1

SH3 domain-containing kinase-binding protein 1 is an enzyme that in humans is encoded by the SH3KBP1 gene.-Interactions:SH3KBP1 has been shown to interact with B-cell linker, Grb2, SH3GLB2, SH3GL3, SH3GL2, BCAR1, Epidermal growth factor receptor, CBLB, Cbl gene, SOS1, CRK and PAK2.-Further reading:...

, CRK

CRK (gene)

Adapter molecule crk also known as proto-oncogene c-Crk or p38 is a protein that in humans is encoded by the CRK gene.- Function :...

, HRAS

HRAS

GTPase HRas also known as transforming protein p21 is an enzyme that in humans is encoded by the HRAS gene. The HRAS gene is located on the short arm of chromosome 11 at position 15.5, from base pair 522,241 to base pair 525,549.- Function :...

, SHC1

SHC1

SHC-transforming protein 1 is a protein that in humans is encoded by the SHC1 gene. SHC has been found to be important in the regulation of apoptosis and drug resistance in mammalian cells....

 and ABI1

ABI1

Abl interactor 1 also known as Abelson interactor 1 is a protein that in humans is encoded by the ABI1 gene.- Function :Abl interactor 1 has been found to form a complex with EPS8 and SOS1, and is thought to be involved in the transduction of signals from Ras to Rac...

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External links

• GeneReviews/NCBI/NIH/UW entry on Noonan syndrome
• http://www.noonansyndrome.org
• http://ghr.nlm.nih.gov/gene=sos1

Further reading