ROM1

retinal outer segment membrane protein 1

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:8202715, PMID:11427722

Subcellular localization

cilia, lysosomes

References: PMID:20592197, PMID:32716032, PMID:29961824, PMID:30630813

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).