# ROM1

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Protein-coding gene in the species Homo sapiens

ROM1 Identifiers Aliases ROM1, ROM, ROSP1, RP7, TSPAN23, retinal outer segment membrane protein 1 External IDs OMIM: 180721; MGI: 97998; HomoloGene: 276; GeneCards: ROM1; OMA:ROM1 - orthologs Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q12.3 Start 62,611,722 bp[1] End 62,615,116 bp[1] Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 A|19 6.03 cM Start 8,904,755 bp[2] End 8,906,720 bp[2] RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad C1 segment amygdala putamen caudate nucleus nucleus accumbens cingulate gyrus anterior cingulate cortex Descending thoracic aorta right frontal lobe Top expressed in neural layer of retina retinal pigment epithelium epithelium of lens pineal gland corneal stroma calvaria interventricular septum body of femur muscle of thigh myocardium of ventricle More reference expression data BioGPS More reference expression data Orthologs Species Human Mouse Entrez 6094 19881 Ensembl ENSG00000149489 ENSMUSG00000071648 UniProt Q03395 P32958 RefSeq (mRNA) NM_000327 NM_009073 RefSeq (protein) NP_000318 NP_033099 Location (UCSC) Chr 11: 62.61 – 62.62 Mb Chr 19: 8.9 – 8.91 Mb PubMed search [3] [4] Wikidata View/Edit Human View/Edit Mouse

**Rod outer segment membrane protein 1** is a [protein](/source/Protein) that in humans is encoded by the *ROM1* [gene](/source/Gene).[5][6]

This gene is a member of a photoreceptor-specific gene family and encodes an integral [membrane protein](/source/Membrane_protein) found in the [photoreceptor](/source/Photoreceptor_cell) disk rim of the [eye](/source/Eye). This protein can form homodimers or can heterodimerize with another photoreceptor protein, [peripherin-2](/source/Peripherin-2) (PRPH2; retinal degeneration, slow; RDS). It is essential for disk [morphogenesis](/source/Morphogenesis), and may also function as an [adhesion molecule](/source/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](/source/Retinitis_pigmentosa).[6]

## References

1. ^ [***a***](#cite_ref-refGRCh38Ensembl_1-0) [***b***](#cite_ref-refGRCh38Ensembl_1-1) [***c***](#cite_ref-refGRCh38Ensembl_1-2) [GRCh38: Ensembl release 89: ENSG00000149489](http://May2017.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000149489) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. ^ [***a***](#cite_ref-refGRCm38Ensembl_2-0) [***b***](#cite_ref-refGRCm38Ensembl_2-1) [***c***](#cite_ref-refGRCm38Ensembl_2-2) [GRCm38: Ensembl release 89: ENSMUSG00000071648](http://May2017.archive.ensembl.org/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000071648) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. **[^](#cite_ref-3)** ["Human PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=6094). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. **[^](#cite_ref-4)** ["Mouse PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=19881). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. **[^](#cite_ref-pmid8504299_5-0)** Bascom RA, Schappert K, McInnes RR (Jul 1993). "Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation". *Hum Mol Genet*. **2** (4): 385–391. [doi](/source/Doi_(identifier)):[10.1093/hmg/2.4.385](https://doi.org/10.1093%2Fhmg%2F2.4.385). [PMID](/source/PMID_(identifier)) [8504299](https://pubmed.ncbi.nlm.nih.gov/8504299).

1. ^ [***a***](#cite_ref-entrez_6-0) [***b***](#cite_ref-entrez_6-1) ["Entrez Gene: ROM1 retinal outer segment membrane protein 1"](https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=6094).

## Further reading

- Wang Q, Chen Q, Zhao K, et al. (2001). "Update on the molecular genetics of retinitis pigmentosa". *Ophthalmic Genet*. **22** (3): 133–154. [doi](/source/Doi_(identifier)):[10.1076/opge.22.3.133.2224](https://doi.org/10.1076%2Fopge.22.3.133.2224). [PMID](/source/PMID_(identifier)) [11559856](https://pubmed.ncbi.nlm.nih.gov/11559856). [S2CID](/source/S2CID_(identifier)) [24004113](https://api.semanticscholar.org/CorpusID:24004113).

- 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): 246–250. [doi](/source/Doi_(identifier)):[10.1038/ng0792-246](https://doi.org/10.1038%2Fng0792-246). [PMID](/source/PMID_(identifier)) [1302019](https://pubmed.ncbi.nlm.nih.gov/1302019). [S2CID](/source/S2CID_(identifier)) [23186865](https://api.semanticscholar.org/CorpusID:23186865).

- 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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682851). *Am. J. Hum. Genet*. **51** (5): 1028–35. [PMC](/source/PMC_(identifier)) [1682851](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682851). [PMID](/source/PMID_(identifier)) [1415249](https://pubmed.ncbi.nlm.nih.gov/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): 1171–1184. [doi](/source/Doi_(identifier)):[10.1016/0896-6273(92)90137-3](https://doi.org/10.1016%2F0896-6273%2892%2990137-3). [PMID](/source/PMID_(identifier)) [1610568](https://pubmed.ncbi.nlm.nih.gov/1610568). [S2CID](/source/S2CID_(identifier)) [22740209](https://api.semanticscholar.org/CorpusID:22740209).

- Bascom RA, Liu L, Humphries P, et al. (1994). "Polymorphisms and rare sequence variants at the ROM1 locus". *Hum. Mol. Genet*. **2** (11): 1975–1977. [doi](/source/Doi_(identifier)):[10.1093/hmg/2.11.1975](https://doi.org/10.1093%2Fhmg%2F2.11.1975). [PMID](/source/PMID_(identifier)) [7904211](https://pubmed.ncbi.nlm.nih.gov/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): 1604–1608. [Bibcode](/source/Bibcode_(identifier)):[1994Sci...264.1604K](https://ui.adsabs.harvard.edu/abs/1994Sci...264.1604K). [doi](/source/Doi_(identifier)):[10.1126/science.8202715](https://doi.org/10.1126%2Fscience.8202715). [PMID](/source/PMID_(identifier)) [8202715](https://pubmed.ncbi.nlm.nih.gov/8202715).

- Bascom RA, Liu L, Heckenlively JR, et al. (1996). "Mutation analysis of the ROM1 gene in retinitis pigmentosa". *Hum. Mol. Genet*. **4** (10): 1895–1902. [doi](/source/Doi_(identifier)):[10.1093/hmg/4.10.1895](https://doi.org/10.1093%2Fhmg%2F4.10.1895). [PMID](/source/PMID_(identifier)) [8595413](https://pubmed.ncbi.nlm.nih.gov/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. [doi](/source/Doi_(identifier)):[10.1006/geno.1996.0570](https://doi.org/10.1006%2Fgeno.1996.0570). [PMID](/source/PMID_(identifier)) [8938448](https://pubmed.ncbi.nlm.nih.gov/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](/source/PMID_(identifier)) [9331261](https://pubmed.ncbi.nlm.nih.gov/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"](https://doi.org/10.1074%2Fjbc.275.8.5370). *J. Biol. Chem*. **275** (8): 5370–5378. [doi](/source/Doi_(identifier)):[10.1074/jbc.275.8.5370](https://doi.org/10.1074%2Fjbc.275.8.5370). [PMID](/source/PMID_(identifier)) [10681511](https://pubmed.ncbi.nlm.nih.gov/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"](https://doi.org/10.1074%2Fjbc.M108941200). *J. Biol. Chem*. **276** (51): 48009–16. [doi](/source/Doi_(identifier)):[10.1074/jbc.M108941200](https://doi.org/10.1074%2Fjbc.M108941200). [PMID](/source/PMID_(identifier)) [11641407](https://pubmed.ncbi.nlm.nih.gov/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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241). *Proc. Natl. Acad. Sci. U.S.A*. **99** (26): 16899–16903. [Bibcode](/source/Bibcode_(identifier)):[2002PNAS...9916899M](https://ui.adsabs.harvard.edu/abs/2002PNAS...9916899M). [doi](/source/Doi_(identifier)):[10.1073/pnas.242603899](https://doi.org/10.1073%2Fpnas.242603899). [PMC](/source/PMC_(identifier)) [139241](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241). [PMID](/source/PMID_(identifier)) [12477932](https://pubmed.ncbi.nlm.nih.gov/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)"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928). *Genome Res*. **14** (10B): 2121–2127. [doi](/source/Doi_(identifier)):[10.1101/gr.2596504](https://doi.org/10.1101%2Fgr.2596504). [PMC](/source/PMC_(identifier)) [528928](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928). [PMID](/source/PMID_(identifier)) [15489334](https://pubmed.ncbi.nlm.nih.gov/15489334).

- Taylor TD, Noguchi H, Totoki Y, et al. (2006). ["Human chromosome 11 DNA sequence and analysis including novel gene identification"](https://doi.org/10.1038%2Fnature04632). *Nature*. **440** (7083): 497–500. [Bibcode](/source/Bibcode_(identifier)):[2006Natur.440..497T](https://ui.adsabs.harvard.edu/abs/2006Natur.440..497T). [doi](/source/Doi_(identifier)):[10.1038/nature04632](https://doi.org/10.1038%2Fnature04632). [PMID](/source/PMID_(identifier)) [16554811](https://pubmed.ncbi.nlm.nih.gov/16554811).

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Adapted from the Wikipedia article [ROM1](https://en.wikipedia.org/wiki/ROM1) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/ROM1?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.