Where is the JAK2 gene located?
Where is the JAK2 gene located?
The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.
What kind of kinase is JAK2?
Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase.
Does JAK2 P have an SH2 domain?
The SH2 domain in Jak2 and other family members is widely thought to lack phosphotyrosine-binding function, in part because early studies found no phenotype with mutation of a key conserved arginine in this domain [4,8].
Can you have polycythemia without JAK2 mutation?
Even though JAK2 mutations are found in the vast majority of PV patients, “true” PV has been described in patients lacking mutations in the exon 12 or 14 of JAK2, raising the question of other mutations causing this phenotype.
What causes JAK 2 mutation?
The JAK2 V617F mutation is a result of a single change in the DNA nucleotide base pair that causes a substitution of a valine amino acid for a phenylalanine amino acid at the 617 position on exon 14 within the JAK2 kinase regulatory domain.
What is the role of JH1 in JAK2?
In particular, JH1 catalyzes trans -phosphorylation of two tyrosine residues in the kinase activation loop (Tyr1007 and Tyr1008 in JAK2), which stabilizes the active state. Trans -phosphorylation of these two tyrosines is the key step in JAK activation.
What is a tyrosine kinase JAK2?
JAK2 is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways and is mutated in polycythemia vera. This kinase contains both the JH1 (catalytic) and JH2 (pseudokinase) domains of JAK2.
What does JAK2 stand for?
Human JAK2, also known as Janus Kinase 2, Tyrosine-Protein Kinase JAK2, and THCYT3, GenBank Accession No. NM_004972, containing the catalytic and the pseudo kinase domains, a.a. 532-1132 (end), with N-terminal His-GST-tag, expressed in a Baculovirus infected Sf9 cell expression system. MW=98 kDa.
What are janjanus kinases (JAK)?
Janus kinases (JAKs) are non-receptor protein tyrosine kinases that serve as the catalytic signaling components for a wide range of cytokine receptors, including the receptors for interleukins, interferons, growth hormone, erythropoietin, and leptin ( 1 ).
