RP1

Retinitis pigmentosa 1 (autosomal dominant)
Identifiers
Symbols	RP1 ; DCDC4A; ORP1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4564
Gene ontology Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE RP1 gnf1h00088 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Retinitis pigmentosa 1 (autosomal dominant), also known as RP1, is a human gene.

Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'. The data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology.

Further reading

• Blanton SH, Heckenlively JR, Cottingham AW; et al. (1992). "Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8". Genomics. 11 (4): 857–69. PMID 1783394.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Juwana JP, Henderikx P, Mischo A; et al. (1999). "EB/RP gene family encodes tubulin binding proteins". Int. J. Cancer. 81 (2): 275–84. PMID 10188731.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pierce EA, Quinn T, Meehan T; et al. (1999). "Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa". Nat. Genet. 22 (3): 248–54. doi:10.1038/10305. PMID 10391211.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sullivan LS, Heckenlively JR, Bowne SJ; et al. (1999). "Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa". Nat. Genet. 22 (3): 255–9. doi:10.1038/10314. PMID 10391212.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Guillonneau X, Piriev NI, Danciger M; et al. (1999). "A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus". Hum. Mol. Genet. 8 (8): 1541–6. PMID 10401003.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Liu Q, Zhou J, Daiger SP; et al. (2002). "Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors". Invest. Ophthalmol. Vis. Sci. 43 (1): 22–32. PMID 11773008.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andersen JS, Lyon CE, Fox AH; et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. PMID 11790298.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fujita Y, Ezura Y, Emi M; et al. (2004). "Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene". J. Hum. Genet. 48 (6): 305–8. doi:10.1007/s10038-003-0029-z. PMID 12764676.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schwartz SB, Aleman TS, Cideciyan AV; et al. (2003). "De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 44 (8): 3593–7. PMID 12882812.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kawamura M, Wada Y, Noda Y; et al. (2004). "Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa". Am. J. Ophthalmol. 137 (6): 1137–9. doi:10.1016/j.ajo.2003.12.037. PMID 15183808.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Khaliq S, Abid A, Ismail M; et al. (2006). "Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa". J. Med. Genet. 42 (5): 436–8. doi:10.1136/jmg.2004.024281. PMID 15863674.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Riazuddin SA, Zulfiqar F, Zhang Q; et al. (2005). "Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families". Invest. Ophthalmol. Vis. Sci. 46 (7): 2264–70. doi:10.1167/iovs.04-1280. PMID 15980210.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roberts L, Bartmann L, Ramesar R, Greenberg J (2006). "Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa". Mol. Vis. 12: 177–83. PMID 16568030.CS1 maint: Multiple names: authors list (link)
• Roni V, Carpio R, Wissinger B (2007). "Mapping of transcription start sites of human retina expressed genes". BMC Genomics. 8: 42. doi:10.1186/1471-2164-8-42. PMID 17286855.CS1 maint: Multiple names: authors list (link)