Structure of KIT. KIT comprises five extracellular immunoglobulin-like domains, a
membrane spanning domain, and two catalytic kinase domains. The first three
immunoglobulin-like domains are responsible for binding to the KIT ligand, SCF.
The two immunoglobulin-like domains proximal to the plasma membrane interact and
facilitate dimerization of KIT. A region of four amino acids (GNNK) lies
adjacent to the plasma membrane region, and alternative splicing of KIT results
in GNNK+ and GNNK− isoforms. The juxtamembrane (JM) domain of
KIT contains the Tyr residues Y568 and Y570, which become phosphorylated upon
activation releasing its auto-inhibitory function. Point mutations in the JM
domain change its conformation and prevent its regulatory function. The V560G
mutation is an example of an activating mutation in the JM domain, particularly
in association with GISTs. There are two catalytic kinase domains (KD) separated
by a kinase insert domain. Several activating mutations have been reported in
the KD of KIT. The D816V mutation is a common mutation and is associated with
mastocytosis.