STUB1
STIP1 homology and U-box containing protein 1
- Ensembl:
- ENSG00000103266
- UniProt:
- Q9UNE7
- OMIM:
- 607207
- Synonyms:
- CHIP, HSPABP2, NY-CO-7, SDCCAG7, UBOX1
Cilia effects upon perturbation of STUB1
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.05) PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Human ciliopathy phenotype:
- autosomal recessive spinocerebellar ataxia 16; spinocerebellar ataxia 48; Adult-onset autosomal recessive cerebellar ataxia
Subcellular localization
basal body, cilia, cytosol, nucleus
Functional category
- Ciliary assembly/disassembly
- Protein processing & maturation
- Signaling (Hedgehog, GPCRs, ion channels)
- Cardiac & muscle development
- Transcription regulation
Function
Also known as CHIP. E3 ub- ligase. Ubiquitylates and degrades NEK10. Novel regulator of protein turnover at ciliary sites, it couples GPCR sig ling to cilia dy mics. Downregulation of CHIP prevents cilia resorption whilst increased expression of CHIP is linked to reduced NEK10 levels and ciliogenesis, role in control of cilium stability. Mutations have been reported in patients with autosomal recessive spinocerebellar ataxia-16 SCAR16 (29581457 ).