RP1

RP1 axonemal microtubule associated

Ensembl:
ENSG00000104237
UniProt:
P56715
OMIM:
603937
Synonyms:
DCDC4A, ORP1

Cilia effects upon perturbation of RP1

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

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.11) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa; retinitis pigmentosa 1; autosomal recessive retinitis pigmentosa

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia

Functional category

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

Function

Nonsense mutation associated with retinitis pigmentosa (10401003). Microtubule- associated protein containing the doublecortin (DCX) domain. Disruption of Rp1 in mice causes misorientation of outer segment discs, suggesting a role in outer segment organisation. Stimulates microtubule polymerization and stabilise existing in vitro and in vivo, therefore, it controls the length and stability of the photoreceptor axoneme (15269252). Due to Rp1 localisation, it may be involved in the formation of outer segments (11773008). Plays synergistic role with Rp1L1 in affecting photosensitivity and OS morphogenesis of rod photoreceptors (19657028).

Model organism evidence

Mus musculus (1 reference)

Intraflagellar transport (IFT) is a bidirectional transport process that occurs along primary cilia and specialized sensory cilia, such as photoreceptor outersegments.

PMIDs: 29659833

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