STAU1

Chr 20

staufen double-stranded RNA binding protein 1

Also known as: PPP1R150, STAU

NCBI Gene: 6780 ENSG00000124214 UniProt: O95793

The protein binds double-stranded RNA and tubulin to transport and localize mRNAs to specific cellular sites via the microtubule network, particularly to the rough endoplasmic reticulum for translation. Mutations cause autosomal dominant neurological disorders affecting the central nervous system. This gene is extremely intolerant to loss-of-function mutations, indicating that even single functional copies are insufficient for normal development.

ResearchSummary from RefSeq, UniProt

Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. [provided by RefSeq, Apr 2020]

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

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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