STUB1

STIP1 homology and U-box containing protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000103266
UniProt:
Q9UNE7
OMIM:
607207
Synonyms:
CHIP, HSPABP2, NY-CO-7, SDCCAG7, UBOX1

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

References: PMID:29581457

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 signaling to cilia dynamics. 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 ).