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Search results 1 to 2 out of 2 for Mast1

Category restricted to ProteinDomain (x)

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Categories

Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: Microtubule-associated serine/threonine-protein kinase 1 (MAST1) belongs to the MAST family, which is characterised by containing a serine/threonine kinase domain and a PDZ (postsynaptic density protein-95/discs large/zona occludens-1) domain []. It links the dystrophin/utrophin network with microtubule filaments via the syntrophins []. MAST1 localises in the DAPC/UAPC, which is found within the postsynaptic region of the neuromuscular junction (NMJ) and central synapses []. The splice variant of its C-terminal affects its subcellular localisation within neurons []. Mutations in this protein cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) but they were also found in patients with autism and microcephaly, suggesting that MAST1 alterations are involved in a wide spectrum of neurodevelopmental diseases [].
Protein Domain
Type: Domain
Description: MAST (Microtubule-Associated Serine/Threonine) kinases are characterised by containing a serine/threonine kinase domain and a PDZ (postsynaptic density protein-95/discs large/zona occludens-1) domain []. There are four mammalian MAST kinases, named MAST1-MAST4. MAST1, MAST2, and MAST3 bind and phosphorylate the tumor suppressor PTEN, and may contribute to the regulation and stabilization of PTEN []. MAST1 links the dystrophin/utrophin network with microtubule filaments via the syntrophins []. MAST1 localises in the DAPC/UAPC, which is found within the postsynaptic region of the neuromuscular junction (NMJ) and central synapses []. The splice variant of its C-terminal affects its subcellular localisation within neurons []. MAST2 is involved in the regulation of the Fc-gamma receptor of the innate immune response in macrophages, and may also be involved in the regulation of the Na+/H+ exchanger NHE3 [].