Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | mutations of the Janus family kinase JAK3 are responsible for autosomal recessive severe combined immunodeficiency. Abnormalities in tyrosine phosphorylation of JAK3 in response to interleukin-2 (IL-2) and IL-4 is present in all patients. In one patient carrying a single amino acid change, Glu481Gly, in the JH3 domain of JAK3, a partially conserved IL-2 responses is observed resulting in reduced but detectable levels of JAK3 and STAT5 phosphorylation. A single cysteine to arginine substitution, Cys759Arg, results in high basal levels of constitutive JAK3 tyrosine phosphorylation unresponsive to either downregulation by serum starvation or cytokine-mediated upregulation | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P52333 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | mutations of the Janus family kinase JAK3 are responsible for autosomal recessive severe combined immunodeficiency. Abnormalities in tyrosine phosphorylation of JAK3 in response to interleukin-2 (IL-2) and IL-4 is present in all patients. In one patient carrying a single amino acid change, Glu481Gly, in the JH3 domain of JAK3, a partially conserved IL-2 responses is observed resulting in reduced but detectable levels of JAK3 and STAT5 phosphorylation. A single cysteine to arginine substitution, Cys759Arg, results in high basal levels of constitutive JAK3 tyrosine phosphorylation unresponsive to either downregulation by serum starvation or cytokine-mediated upregulation | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
Janus family kinase JAK3 | - |
Homo sapiens |
tyrosine-protein kinase JAK3 | - |
Homo sapiens |