PTPN11

Tyrosine-protein phosphatase non-receptor type 11 ;
Protein-tyrosine phosphatase 1D ;
PTP-1D ;
Protein-tyrosine phosphatase 2C ;
PTP-2C ;
SH-PTP2 ;
SHP-2 ;
Shp2 ;
SH-PTP3 ;

catalytic activity:Protein tyrosine phosphate + H (2) O = protein tyrosine + phosphate. ,disease:Defects in PTPN11 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. It is characterized by leukocytosis with tissue infiltration and in vitro hypersensitivity of myeloid progenitors to granulocyte-macrophage colony stimulating factor. ,disease:Defects in PTPN11 are a cause of Noonan-like syndrome [MIM:163955]; also known as Noonan-like/multiple giant cell lesion syndrome. It is an autosomal dominant disorder characterized by Noonan features associates with giant cell lesions of bone and soft tissue. ,disease:Defects in PTPN11 are the cause of LEOPARD syndrome [MIM:151100]. It is an autosomal dominant disorder allelic with Noonan syndrome. The acronym LEOPARD stands for lentigines , electrocardiographic conduction abnormalities , ocular hypertelorism , pulmonic stenosis , abnormalities of genitalia , retardation of growth , and deafness. ,disease:Defects in PTPN11 are the cause of Noonan syndrome 1 (NS1) [MIM:163950]. Noonan syndrome (NS) is a 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. Mutations in PTPN11 account for more than 50% of the cases. Rarely , NS is associated with juvenile myelomonocytic leukemia (JMML) . NS1 inheritance is autosomal dominant. ,domain:The SH2 domains repress phosphatase activity. Binding of these domains to phosphotyrosine-containing proteins relieves this auto-inhibition , possibly by inducing a conformational change in the enzyme. ,function:Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. ,PTM:Phosphorylated on Tyr-546 and Tyr-584 upon receptor protein tyrosine kinase activation; which creates a binding site for GRB2 and other SH2-containing proteins. ,similarity:Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily. ,similarity:Contains 1 tyrosine-protein phosphatase domain. ,similarity:Contains 2 SH2 domains. ,subunit:Interacts with phosphorylated LIME1 and BCAR3. Interacts with SHB and INPP5D/SHIP1 (By similarity) . Interacts with PTPNS1 and CD84. Interacts with phosphorylated SIT1 and MPZL1. Interacts with FCRL3 , FCRL4 , FCRL6 and ANKHD1. ,tissue specificity:Widely expressed , with highest levels in heart , brain , and skeletal muscle. ,

cell cycle checkpoint , DNA damage checkpoint , MAPKKK cascade , activation of MAPK activity , cell morphogenesis , cell morphogenesis involved in differentiation , regulation of peptide secretion , negative regulation of peptide secretion ,protein amino acid phosphorylation , protein amino acid dephosphorylation , neutral lipid metabolic process , acylglycerol metabolic process , triglyceride metabolic process , glycerol ether metabolic process , phosphorus metabolic process ,phosphate metabolic process , response to DNA damage stimulus , cell surface receptor linked signal transduction ,enzyme linked receptor protein signaling pathway , transmembrane receptor protein tyrosine kinase signaling pathway , intracellular signaling cascade , protein kinase cascade , axonogenesis , response to endogenous stimulus ,response to hormone stimulus , hormone-mediated signaling , positive regulation of signal transduction , response to organic substance , positive regulation of cell communication , regulation of hormone levels , phosphorylation ,dephosphorylation , organic ether metabolic process , regulation of phosphate metabolic process , cell projection organization , neuron differentiation , neuron projection development , DNA integrity checkpoint , regulation of intracellular transport , multicellular organism reproduction , cellular response to hormone stimulus , regulation of protein localization , cellular component morphogenesis , cell part morphogenesis , regulation of intracellular protein transport , carbohydrate homeostasis , cellular response to stress , positive regulation of kinase activity , organ growth ,growth , regulation of growth , regulation of multicellular organism growth , regulation of phosphorylation , hormone metabolic process , homeostatic process , glucose homeostasis , DNA damage response , signal transduction , positive regulation of catalytic activity , regulation of MAP kinase activity , positive regulation of MAP kinase activity , regulation of kinase activity , regulation of system process , positive regulation of molecular function , regulation of protein kinase activity , positive regulation of protein kinase activity , glycerolipid metabolic process , negative regulation of insulin secretion , regulation of nucleocytoplasmic transport , regulation of protein export from nucleus , regulation of hormone secretion , positive regulation of hormone secretion , negative regulation of hormone secretion , nerve growth factor receptor signaling pathway , reproductive process in a multicellular organism , neuron development , cell morphogenesis involved in neuron differentiation , neuron projection morphogenesis , cell projection morphogenesis , chemical homeostasis , regulation of insulin secretion , regulation of secretion , positive regulation of secretion , negative regulation of secretion , positive regulation of transport , negative regulation of transport , regulation of phosphorus metabolic process , regulation of protein transport , regulation of transferase activity , positive regulation of transferase activity , regulation of cortisol secretion , negative regulation of cortisol secretion , regulation of cell cycle , regulation of growth hormone secretion , negative regulation of growth hormone secretion , regulation of cellular localization ,regulation of establishment of protein localization ,

Cytoplasm . Nucleus .