MAPRE1

Chr 20

microtubule associated protein RP/EB family member 1

Also known as: EB1

NCBI Gene: 22919 ENSG00000101367 UniProt: Q15691 OMIM: 603108

MAPRE1 encodes a plus-end tracking protein that binds to growing microtubule ends and regulates microtubule dynamics, spindle positioning during mitosis, and chromosome alignment. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. The gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating that heterozygous mutations are likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted