SAG

S-antigen visual arrestin

Ensembl:
ENSG00000281857
UniProt:
P10523
OMIM:
181031
Synonyms:
ARRESTIN, RP47

Cilia effects upon perturbation of SAG

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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

Phenotypes

Mouse phenotype:
increased lean body mass, decreased circulating fructosamine level, iris synechia, decreased total body fat amount, decreased circulating hdl cholesterol level
Mouse ciliopathy phenotype:
decreased circulating calcium level

Subcellular localization

cilia associated gene, cytosol, microtubules

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the SAG gene cause Retinitis Pigmentosa (PMID: 9565049).

Model organism evidence

Mus musculus (3 references)

Intraflagellar transport (IFT) drives the bidirectional movement of trains composed of IFT-A, IFT-B, and BBSome complexes that build and maintain cilia while supporting their signaling functions.

Rescue experiments employed the Smoothened agonist (SAG) to activate Shh signaling.Main Outcome MeasureCilia incidence and length; Smo/Gli3 mRNA and protein expression; Gli3A/Gli3R ratio; cell proliferation rates (OD values, PCNA, Cyclin D1); SAG-mediated rescue effects.ResultsIntraflagellar tra

PMIDs: 41648367, 40598823, 40338802