MAST1

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system.

Full Name

microtubule associated serine/threonine kinase 1

Function

Microtubule-associated protein essential for correct brain development (PubMed:30449657).

Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity).

Biological Process

Brain development Source: UniProtKB
Cytoskeleton organization Source: UniProtKB
Intracellular signal transduction Source: UniProtKB
Peptidyl-serine phosphorylation Source: GO_Central
Protein phosphorylation Source: UniProtKB

Cellular Location

Plasma membrane
Cell membrane
Cytoskeleton
Other locations
axon
dendrite
Note: Also localized in the soma of neurons. Observed as punctate clusters in the processes of interneurons and along the cell body periphery. Colocalizes with syntrophins at the cell membrane.

Involvement in disease

Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM):
An autosomal dominant neurodevelopmental disorder with onset in infancy. MCCCHCM is characterized by global developmental delay, impaired intellectual development, poor or absent speech, unsteady gait, ataxia, inability to walk, and variable brain abnormalities. Seizures and autistic features are observed in some patients. Brain imaging findings include an enlarged corpus callosum in the absence of megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral abnormalities, and cortical malformations.