PLK1

Chr 16

polo like kinase 1

Also known as: PLK, STPK13

NCBI Gene: 5347 ENSG00000166851 UniProt: P53350 OMIM: 602098

PLK1 encodes a serine/threonine kinase that regulates multiple critical functions during mitosis including centrosome maturation, spindle assembly, chromosome cohesion, and cytokinesis. Mutations in PLK1 cause an autosomal dominant neurodevelopmental disorder characterized by microcephaly, intellectual disability, and seizures with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that even single functional copies are insufficient for normal development.

OMIM ResearchSummary from RefSeq, UniProt

The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]

OMIM 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

435

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted