ROM1

From Wikipedia, the free encyclopedia

Retinal outer segment membrane protein 1

Identifiers

ROM1; ROM; ROSP1; TSPAN23

External IDs

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• integral to plasma membrane • membrane
Biological Process:	• cell adhesion • visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000327 (mRNA)
NP_000318 (protein)

NM_009073 (mRNA)
NP_033099 (protein)

Location

Chr 11: 62.14 - 62.14 Mb

Chr 19: 8.99 - 9 Mb

Pubmed search

[1]

[2]

Retinal outer segment membrane protein 1, also known as ROM1, is a human gene.^[1]

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa.^[1]

[edit] References

^ ^a ^b Entrez Gene: ROM1 retinal outer segment membrane protein 1.

[edit] Further reading

Wang Q, Chen Q, Zhao K, et al. (2001). "Update on the molecular genetics of retinitis pigmentosa.". Ophthalmic Genet. 22 (3): 133–54. PMID 11559856.
Stone EM, Nichols BE, Streb LM, et al. (1993). "Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.". Nat. Genet. 1 (4): 246–50. doi:10.1038/ng0792-246. PMID 1302019.
Bascom RA, García-Heras J, Hsieh CL, et al. (1992). "Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM.". Am. J. Hum. Genet. 51 (5): 1028–35. PMID 1415249.
Bascom RA, Manara S, Collins L, et al. (1992). "Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies.". Neuron 8 (6): 1171–84. PMID 1610568.
Bascom RA, Liu L, Humphries P, et al. (1994). "Polymorphisms and rare sequence variants at the ROM1 locus.". Hum. Mol. Genet. 2 (11): 1975–7. PMID 7904211.
Kajiwara K, Berson EL, Dryja TP (1994). "Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.". Science 264 (5165): 1604–8. PMID 8202715.
Bascom RA, Schappert K, McInnes RR (1993). "Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation.". Hum. Mol. Genet. 2 (4): 385–91. PMID 8504299.
Bascom RA, Liu L, Heckenlively JR, et al. (1996). "Mutation analysis of the ROM1 gene in retinitis pigmentosa.". Hum. Mol. Genet. 4 (10): 1895–902. PMID 8595413.
Courseaux A, Grosgeorge J, Gaudray P, et al. (1997). "Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).". Genomics 37 (3): 354–65. PMID 8938448.
Dryja TP, Hahn LB, Kajiwara K, Berson EL (1997). "Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.". Invest. Ophthalmol. Vis. Sci. 38 (10): 1972–82. PMID 9331261.
Loewen CJ, Molday RS (2000). "Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration.". J. Biol. Chem. 275 (8): 5370–8. PMID 10681511.
Poetsch A, Molday LL, Molday RS (2002). "The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes.". J. Biol. Chem. 276 (51): 48009–16. doi:10.1074/jbc.M108941200. PMID 11641407.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification.". Nature 440 (7083): 497–500. doi:10.1038/nature04632. PMID 16554811.