RNPS1

RNA binding protein with serine rich domain 1

Ensembl:
ENSG00000205937
UniProt:
Q15287
OMIM:
606447

Cilia effects upon perturbation of RNPS1

Loss-of-function effect:
Supernumerary cilia

Ciliogenesis screen results (7 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.93) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Basu et al. 2023 (siRNA) [siRNA]: Left-Right Asymmetry Candidate (Z2MCilia=1.05) PMID:37771269
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=553, lfc=0.79) PMID:30270045
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=4.42) PMID:20393562

Phenotypes

Mouse phenotype:
abnormal optic disk morphology, irregularly shaped pupil, increased mean corpuscular hemoglobin, increased startle reflex, abnormal iris morphology, abnormal cornea morphology
Mouse ciliopathy phenotype:
abnormal reti vasculature morphology, increased circulating alanine transamise level

Subcellular localization

cilia associated gene

Functional category

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

Function

Loss of RNPS1 gene cause supernumerary cilia(PMID: 37771269).