CAMK1D

Chr 10

calcium/calmodulin dependent protein kinase ID

Also known as: CKLiK, CaM-K1, CaMKID

NCBI Gene: 57118 ENSG00000183049 UniProt: Q8IU85

The protein is a calcium/calmodulin-dependent serine/threonine kinase that activates CREB-dependent gene transcription and regulates granulocyte function and dendritic growth in hippocampal neurons. Mutations cause neurodevelopmental disorders with intellectual disability and seizures, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function mutations, indicating it is essential for normal cellular function.

ResearchSummary from RefSeq, UniProt

This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 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

0.23

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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