CYS1

cystin 1

Ensembl:
ENSG00000205795
UniProt:
Q717R9
OMIM:
618713

Cilia effects upon perturbation of CYS1

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=289, lfc=-2.19) PMID:30270045

Ciliopathy associations

  • Autosomal Dominant Polycystic Kidney Disease
  • Autosomal Recessive Polycystic Kidney Disease

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Ciliary membrane

Function

Cystin may not involved in a ciliogenic pathway, but would rather play a novel role in ciliary function. It bounds to the axonemal membrane and may function as part of a molecular scaffold that stabilizes microtubule assembly within the ciliary axoneme (11854326).