RP1

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains that bind to microtubules and regulate microtubule polymerization. The encoded protein is a protein associated with the photoreceptor cell microtubules in the retina and is necessary for the correct stacking of outer segment disc. This protein and another retinal-specific protein, RP1L1, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptor cells.{{cite web |url=https://www.ncbi.nlm.nih.gov/gene/6101 |title=RP1 axonemal microtubule associated |access-date=2020-09-25 |archive-date=2021-01-17 |archive-url=https://web.archive.org/web/20210117055825/https://www.ncbi.nlm.nih.gov/gene/6101 |url-status=live }}

Initially named "ORP1" 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'.

Mutations in this gene cause autosomal dominant or autosomal recessive retinitis pigmentosa.{{cite journal | vauthors = Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M | title = Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History | journal = American Journal of Ophthalmology | date = August 2020 | volume = 221 | pages = 299–310 | pmid = 32795431 | doi = 10.1016/j.ajo.2020.08.004| pmc=7772805 | doi-access = free }}{{cite journal | vauthors = Ueno S, Koyanagi Y, Kominami T, Ito Y, Kawano K, Nishiguchi KM, Rivolta C, Nakazawa T, Sonoda KH, Terasaki H | title = Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants | journal = Japanese Journal of Ophthalmology | volume = 64 | issue = 5 | pages = 485–496 | date = September 2020 | pmid = 32627106 | doi = 10.1007/s10384-020-00752-1 | s2cid = 220351273 | url = https://edoc.unibas.ch/79688/3/Clinical%20characteristics.pdf | access-date = 2022-06-11 | archive-date = 2022-05-19 | archive-url = https://web.archive.org/web/20220519142416/https://edoc.unibas.ch/79688/3/Clinical%20characteristics.pdf | url-status = live }}{{cite book | vauthors = Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR | title = Retinal Degenerations | chapter = Identification of the RP1 and RP10 (IMPDH1) Genes Causing Autosomal Dominant RP | series = Advances in Experimental Medicine and Biology | volume = 533 | pages = 1–11 | date = 2003 | pmid = 15180241 | pmc = 2583078 | doi = 10.1007/978-1-4615-0067-4_1 | isbn = 978-1-4613-4909-9 }}{{cite book | vauthors = Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR | title = Retinal Degenerative Diseases | chapter = Genetic factors modifying clinical expression of autosomal dominant RP | series = Advances in Experimental Medicine and Biology | volume = 572 | pages = 3–8 | date = 2006 | pmid = 17249547 | pmc = 2581449 | doi = 10.1007/0-387-32442-9_1 | isbn = 978-0-387-28464-4 }}{{cite journal | vauthors = Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP | title = Gene mutations in retinitis pigmentosa and their clinical implications | journal = Clinica Chimica Acta; International Journal of Clinical Chemistry | volume = 351 | issue = 1–2 | pages = 5–16 | date = January 2005 | pmid = 15563868 | doi = 10.1016/j.cccn.2004.08.004 }} Transcript variants produced by alternative promoters and alternative splicing have been discovered that overlap with the current reference sequence and have multiple exons upstream and downstream of the current reference sequence. However, as of 2010, it is currently impossible to determine the biological effectiveness and full-length nature of certain variants.

• Disc shedding

{{Reflist}}

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• {{Cite journal | author=Riazuddin SA |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 | author2=Zulfiqar F | author3=Zhang Q | last4=Sergeev | first4=YV | last5=Qazi | first5=ZA | last6=Husnain | first6=T | last7=Caruso | first7=R | last8=Riazuddin | first8=S | last9=Sieving | first9=PA | doi-access=free }}
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{{Refend}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rp-overview GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview]

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