Microtubule-Associated Serine/Threonine Kinase 1

Alternative Names

  • MAST1
  • Syntrophin-Associated Serine/Threonine Kinase
  • SAST
  • KIAA0973
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OMIM Number

612256

NCBI Gene ID

22983

Uniprot ID

Q9Y2H9

Length

36,438 bases

No. of Exons

26

No. of isoforms

1

Protein Name

Microtubule-associated serine/threonine-protein kinase 1

Molecular Mass

170677 Da

Amino Acid Count

1570

Genomic Location

chr19:12,838,514-12,874,951

Gene Map Locus
19p13.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_014975.3:c.3539T>GUnited Arab EmiratesNC_000019.10:g.12873696T>GNG_054729.1:g.44766T>G; NM_014975.3:c.3539T>G; NP_055790.1:p.Leu1180Arg
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