RP1L1

RP1 like 1

Ensembl:
ENSG00000292297, ENSG00000183638
UniProt:
Q8IWN7
OMIM:
608581
Synonyms:
DCDC4B

Cilia effects upon perturbation of RP1L1

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

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)

Model organism evidence

C. elegans (1 reference)

Using whole-organism RNA-Seq libraries, we discovered a signature expression profile highly enriched for transcripts of known ciliary proteins, including FAM-161 (FAM161A orthologue), CCDC-104 (CCDC104), and RPI-1 (RP1/RP1L1), which we confirm are cilium-localised in worms.

PMIDs: 27930654

Mus musculus (1 reference)

Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa.

PMIDs: 19657028