RAPSN

receptor associated protein of the synapse

Ensembl:
ENSG00000165917
UniProt:
Q13702
OMIM:
601592
Synonyms:
CMS1D, CMS1E, RNF205

Cilia effects upon perturbation of RAPSN

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Decreased

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.65) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased circulating hdl cholesterol level, preweaning lethality, complete penetrance

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

rapsyn and NUP88 localisation at basal bodys and cilia (33168876).