TESK1

Chr 9

testis associated actin remodelling kinase 1

NCBI Gene: 7016 ENSG00000107140 UniProt: Q15569

This dual specificity protein kinase regulates the cellular cytoskeleton by phosphorylating cofilin to enhance actin stress fiber formation and by inhibiting microtubule breakdown, and also suppresses ciliogenesis through multiple pathways including cofilin phosphorylation and regulation of ciliary trafficking. TESK1 is highly constrained against loss-of-function variants, but no definitive human disease associations have been established in the provided data. The inheritance pattern for potential TESK1-related disorders has not been determined.

ResearchSummary from RefSeq, UniProt

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

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

0.28

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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