MARK1

Chr 1

microtubule affinity regulating kinase 1

Also known as: MARK, Par-1c, Par1c

NCBI Gene: 4139 ENSG00000116141 UniProt: Q9P0L2

The protein functions as a serine/threonine kinase that regulates microtubule dynamics and cell polarity by phosphorylating microtubule-associated proteins including tau, MAP2, and DCX, and plays a role in neuronal migration and Wnt signaling. Mutations cause autosomal recessive intellectual disability with seizures and macrocephaly. The gene shows high constraint against loss-of-function variants (LOEUF 0.363), indicating intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Enables anion binding activity; magnesium ion binding activity; and tau-protein kinase activity. Involved in intracellular signal transduction; negative regulation of epithelial to mesenchymal transition; and protein phosphorylation. Located in cytoplasm; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.36

LOEUF

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Mechanism

Some data sources returned errors (1)

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