RP1L1

RP1 like 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000292297
UniProt:
Q8IWN7
OMIM:
608581
Synonyms:
DCDC4B

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.83) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.12) PMID:41160700

Subcellular localization

basal body, cilia, flagella

References: PMID:20826268

Functional category

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

Function

Shares similar DCX tandem repeats and a 34 aa domain (RP1D) with Rp1. Plays essential and synergistic roles with Rp1 in affecting photosensitivity and OS morphogenesis of rod photoreceptors. Mutations in RP1L1 could underlie retinopathy or modify RP1 disease expression in humans (19657028). Mutations in RP1L1 have been associated with occult macular dystrophy and RP (20826268)