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{{About|the protein|the rocket fuel|RP-1|other uses|RP 1 (disambiguation){{!}}RP 1}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Oxygen-regulated protein 1''' also known as '''retinitis pigmentosa 1 protein''' (RP1) is a [[protein]] that in humans is encoded by the ''RP1'' [[gene]].<ref name="pmid1783394">{{cite journal |vauthors=Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP | 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 |date=Mar 1992 | pmid = 1783394 | pmc =  | doi =10.1016/0888-7543(91)90008-3  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RP1 retinitis pigmentosa 1 (autosomal dominant)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6101| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Retinitis pigmentosa 1 (autosomal dominant)
| HGNCid = 10263
| Symbol = RP1
| AltSymbols =; DCDC4A; ORP1
| OMIM = 603937
| ECnumber = 
| Homologene = 4564
| MGIid = 1341105
| GeneAtlas_image1 = PBB_GE_RP1_gnf1h00088_at_tn.png
| Function =  
| Component = {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005929 |text = cilium}}
| Process = {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007603 |text = phototransduction, visible light}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6101
    | Hs_Ensembl = ENSG00000104237
    | Hs_RefseqProtein = NP_006260
    | Hs_RefseqmRNA = NM_006269
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 55691180
    | Hs_GenLoc_end = 55705947
    | Hs_Uniprot = P56715
    | Mm_EntrezGene = 19888
    | Mm_Ensembl = ENSMUSG00000025900
    | Mm_RefseqmRNA = NM_011283
    | Mm_RefseqProtein = NP_035413
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 4334224
    | Mm_GenLoc_end = 4350473
    | Mm_Uniprot = Q4VA02
  }}
}}
'''Retinitis pigmentosa 1 (autosomal dominant)''', also known as '''RP1''', is a human [[gene]].<ref name="entrez">{{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 = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Initially named for its response to ''in vivo'' [[retina]]l 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 cell|photoreceptor]] biology.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| 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.<ref name="entrez">{{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 = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
*{{Cite journal  | author=Juwana JP |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=10.1002/(SICI)1097-0215(19990412)81:2<275::AID-IJC18>3.0.CO;2-Z |name-list-format=vanc| author2=Henderikx P | author3=Mischo A | display-authors=3  | last4=Wadle  | first4=Andreas  | last5=Fadle  | first5=Natalie  | last6=Gerlach  | first6=Klaus  | last7=Arends  | first7=Jan Willem  | last8=Hoogenboom  | first8=Hennie  | last9=Pfreundschuh  | first9=Michael }}
| citations =
*{{Cite journal  | author=Pierce EA |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 |name-list-format=vanc| author2=Quinn T  | author3=Meehan T  | display-authors=3  | last4=McGee  | first4=Terri L.  | last5=Berson  | first5=Eliot L.  | last6=Dryja  | first6=Thaddeus P. }}
*{{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=Sullivan LS |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 | pmc=2582380  |name-list-format=vanc| author2=Heckenlively JR  | author3=Bowne SJ  | display-authors=3  | last4=Zuo  | first4=Jian  | last5=Hide  | first5=Winston A.  | last6=Gal  | first6=Andreas  | last7=Denton  | first7=Michael  | last8=Inglehearn  | first8=Chris F.  | last9=Blanton  | first9=Susan H. }}
*{{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=Guillonneau X |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=10.1093/hmg/8.8.1541  |name-list-format=vanc| author2=Piriev NI  | author3=Danciger M  | display-authors=3  | last4=Kozak  | first4=CA  | last5=Cideciyan  | first5=AV  | last6=Jacobson  | first6=SG  | last7=Farber  | first7=DB }}
*{{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=Liu Q |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= | pmc=1963488  |name-list-format=vanc| author2=Zhou J  | author3=Daiger SP  | display-authors=3  | last4=Farber  | first4=DB  | last5=Heckenlively  | first5=JR  | last6=Smith  | first6=JE  | last7=Sullivan  | first7=LS  | last8=Zuo  | first8=J  | last9=Milam  | first9=AH }}
*{{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=Andersen JS |title=Directed proteomic analysis of the human nucleolus |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1–11 |year= 2002 |pmid= 11790298 |doi=10.1016/S0960-9822(01)00650-9  |name-list-format=vanc| author2=Lyon CE  | author3=Fox AH  | display-authors=3  | last4=Leung  | first4=Anthony K.L.  | last5=Lam  | first5=Yun Wah  | last6=Steen  | first6=Hanno  | last7=Mann  | first7=Matthias  | last8=Lamond  | first8=Angus I. }}
*{{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=Fujita Y |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 |name-list-format=vanc| author2=Ezura Y  | author3=Emi M  | display-authors=3  | last4=Ono  | first4=S  | last5=Takada  | first5=D  | last6=Takahashi  | first6=K  | last7=Uemura  | first7=K  | last8=Iino  | first8=Y  | last9=Katayama  | first9=Y }}
*{{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=Schwartz SB |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=10.1167/iovs.03-0155  |name-list-format=vanc| author2=Aleman TS  | author3=Cideciyan AV  | display-authors=3  | last4=Swaroop  | first4=A  | last5=Jacobson  | first5=SG  | last6=Stone  | first6=EM }}
*{{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=Ota T |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 |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{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=Kawamura M |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 |name-list-format=vanc| author2=Wada Y  | author3=Noda Y  | display-authors=3  | last4=Itabashi  | first4=Toshitaka  | last5=Ogawa  | first5=Soh-Ichiro  | last6=Sato  | first6=Hajime  | last7=Tanaka  | first7=Kenji  | last8=Ishibashi  | first8=Tasturo  | last9=Tamai  | first9=Makoto }}
*{{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=Khaliq S |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 | pmc=1736063  |name-list-format=vanc| author2=Abid A  | author3=Ismail M  | display-authors=3  | last4=Hameed  | first4=A  | last5=Mohyuddin  | first5=A  | last6=Lall  | first6=P  | last7=Aziz  | first7=A  | last8=Anwar  | first8=K  | last9=Mehdi  | first9=SQ }}
*{{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=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 |name-list-format=vanc| author2=Zulfiqar F  | author3=Zhang Q  | display-authors=3  | last4=Sergeev  | first4=YV  | last5=Qazi  | first5=ZA  | last6=Husnain  | first6=T  | last7=Caruso  | first7=R  | last8=Riazuddin  | first8=S  | last9=Sieving  | first9=PA }}
*{{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  |vauthors=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=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  |vauthors=Roni V, Carpio R, Wissinger B |title=Mapping of transcription start sites of human retina expressed genes |journal=BMC Genomics |volume=8|pages= 42 |year= 2007 |pmid= 17286855 |doi= 10.1186/1471-2164-8-42 | pmc=1802077 }}
*{{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 }}
{{Refend}}
*{{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 }}
==External links==
}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rp-overview  GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview]
{{refend}}
 
{{Ciliary proteins}}
 


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{{gene-8-stub}}
{{WikiDoc Sources}}

Latest revision as of 09:25, 10 September 2017

This article is about the protein. For the rocket fuel, see RP-1. For other uses, see RP 1.
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.[1][2]

Function

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.[2]

References

  1. ↑ Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP (Mar 1992). "Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8". Genomics. 11 (4): 857–69. doi:10.1016/0888-7543(91)90008-3. PMID 1783394.
  2. ↑ 2.0 2.1 "Entrez Gene: RP1 retinitis pigmentosa 1 (autosomal dominant)".

Further reading

External links


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