STUB1

Chr 16

STIP1 homology and U-box containing protein 1

Also known as: CHIP, HSPABP2, NY-CO-7, SCA48, SCAR16, SDCCAG7, UBOX1

NCBI Gene: 10273 ENSG00000103266 UniProt: Q9UNE7

The STUB1 protein functions as an E3 ubiquitin ligase and cochaperone that targets misfolded proteins for proteasomal degradation and maintains mitochondrial quality control. Mutations cause spinocerebellar ataxia with both autosomal recessive (SCA16) and autosomal dominant (SCA48) inheritance patterns. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.68), and the ataxias primarily affect the cerebellum and result in progressive movement disorders.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 16

UniProtSpinocerebellar ataxia 48

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

114

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.68

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)