RP1

Retinitis pigmentosa 1 (autosomal dominant), also known as RP1, is a human gene.cite web | title = Entrez Gene: RP1 retinitis pigmentosa 1 (autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6101| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: RP1 retinitis pigmentosa 1 (autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6101| accessdate = ]

References

Further reading

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

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