ROM1

retinal outer segment membrane protein 1

Ensembl:
ENSG00000149489
UniProt:
Q03395
OMIM:
180721
Synonyms:
ROM, TSPAN23

Cilia effects upon perturbation of ROM1

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

Human ciliopathy phenotype:
retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia, lysosomes

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane

Function

Outer segment protein. Its localisation depends on AHI1 (20592197). Non- covalently linked PRPH2/ROM1 complex can initiate OS formation, whilst covalent oligomerisation is required for proper OS maturation (32716032, 29961824). Creates and maintains the rim region of rod discs and cone lamellae and help to regulate disc size and alignment (29961824). Homozygous frameshift mutation has been recently associated with pattern dystrophy (30630813).

Model organism evidence

Mus musculus (1 reference)

Vertebrate photoreceptors have a modified cilium composed of a basal body, axoneme and outer segment.

PMIDs: 20592197