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P56715

- RP1_HUMAN

UniProt

P56715 - RP1_HUMAN

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Protein
Oxygen-regulated protein 1
Gene
RP1, ORP1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme By similarity.

GO - Molecular functioni

  1. microtubule binding Source: UniProtKB
  2. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. axoneme assembly Source: UniProtKB
  2. cellular response to light stimulus Source: Ensembl
  3. intracellular signal transduction Source: InterPro
  4. photoreceptor cell development Source: UniProtKB
  5. photoreceptor cell maintenance Source: UniProtKB
  6. photoreceptor cell outer segment organization Source: UniProtKB
  7. phototransduction, visible light Source: ProtInc
  8. retinal cone cell development Source: UniProtKB
  9. retinal rod cell development Source: UniProtKB
  10. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Oxygen-regulated protein 1
Alternative name(s):
Retinitis pigmentosa 1 protein
Retinitis pigmentosa RP1 protein
Gene namesi
Name:RP1
Synonyms:ORP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:10263. RP1.

Subcellular locationi

Cytoplasmcytoskeletoncilium axoneme By similarity. Cell projectionciliumphotoreceptor outer segment
Note: Specifically localized in the connecting cilia of rod and cone photoreceptors.1 Publication

GO - Cellular componenti

  1. axoneme Source: Ensembl
  2. microtubule Source: UniProtKB-KW
  3. microtubule associated complex Source: UniProtKB
  4. photoreceptor connecting cilium Source: MGI
  5. photoreceptor inner segment Source: UniProtKB
  6. photoreceptor outer segment Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 1 (RP1) [MIM:180100]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti172 – 1721L → R in RP1. 1 Publication
Corresponds to variant rs180729424 [ dbSNP | Ensembl ].
VAR_068351
Natural varianti202 – 2021D → E in RP1. 1 Publication
VAR_064182
Natural varianti373 – 3731T → I in RP1. 3 Publications
Corresponds to variant rs77775126 [ dbSNP | Ensembl ].
VAR_064183
Natural varianti663 – 6631K → N in RP1; unknown pathological significance. 2 Publications
VAR_064467
Natural varianti669 – 6691A → T in RP1. 1 Publication
VAR_064468
Natural varianti900 – 9001K → N in RP1. 1 Publication
VAR_066951
Natural varianti984 – 9841D → G in RP1. 1 Publication
VAR_064471
Natural varianti1370 – 13701K → E in RP1; unknown pathological significance. 1 Publication
Corresponds to variant rs186594858 [ dbSNP | Ensembl ].
VAR_064472
Natural varianti1652 – 16521R → L in RP1; unknown pathological significance. 1 Publication
VAR_064473
Natural varianti1808 – 18081L → P in RP1; unknown pathological significance. 1 Publication
VAR_064474
Natural varianti2113 – 21131T → N in RP1. 1 Publication
Corresponds to variant rs137887415 [ dbSNP | Ensembl ].
VAR_066959

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi145750. phenotype.
180100. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34635.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 21562156Oxygen-regulated protein 1
PRO_0000097410Add
BLAST

Proteomic databases

MaxQBiP56715.
PaxDbiP56715.
PeptideAtlasiP56715.
PRIDEiP56715.

PTM databases

PhosphoSiteiP56715.

Expressioni

Tissue specificityi

Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.

Gene expression databases

BgeeiP56715.
CleanExiHS_RP1.
GenevestigatoriP56715.

Organism-specific databases

HPAiHPA042257.

Interactioni

Subunit structurei

Interacts (via the doublecortin domains) with microtubules. Interacts with RP1L1 By similarity. Interacts with MAK By similarity.

Protein-protein interaction databases

STRINGi9606.ENSP00000220676.

Structurei

3D structure databases

ProteinModelPortaliP56715.
SMRiP56715. Positions 35-107.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini36 – 11883Doublecortin 1
Add
BLAST
Domaini154 – 23380Doublecortin 2
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi268 – 2736Poly-Ser
Compositional biasi671 – 6755Poly-Lys
Compositional biasi1687 – 16915Poly-Ser

Domaini

The doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization and function in photoreceptor differentiation By similarity.

Sequence similaritiesi

Contains 2 doublecortin domains.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG313727.
HOGENOMiHOG000136857.
HOVERGENiHBG018173.
InParanoidiP56715.
OMAiEYHMFTH.
OrthoDBiEOG7N37DH.
PhylomeDBiP56715.
TreeFamiTF318770.

Family and domain databases

Gene3Di3.10.20.230. 2 hits.
InterProiIPR003533. Doublecortin_dom.
[Graphical view]
PfamiPF03607. DCX. 2 hits.
[Graphical view]
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P56715-1 [UniParc]FASTAAdd to Basket

« Hide

MSDTPSTGFS IIHPTSSEGQ VPPPRHLSLT HPVVAKRISF YKSGDPQFGG     50
VRVVVNPRSF KSFDALLDNL SRKVPLPFGV RNISTPRGRH SITRLEELED 100
GESYLCSHGR KVQPVDLDKA RRRPRPWLSS RAISAHSPPH PVAVAAPGMP 150
RPPRSLVVFR NGDPKTRRAV LLSRRVTQSF EAFLQHLTEV MQRPVVKLYA 200
TDGRRVPSLQ AVILSSGAVV AAGREPFKPG NYDIQKYLLP ARLPGISQRV 250
YPKGNAKSES RKISTHMSSS SRSQIYSVSS EKTHNNDCYL DYSFVPEKYL 300
ALEKNDSQNL PIYPSEDDIE KSIIFNQDGT MTVEMKVRFR IKEEETIKWT 350
TTVSKTGPSN NDEKSEMSFP GRTESRSSGL KLAACSFSAD VSPMERSSNQ 400
EGSLAEEINI QMTDQVAETC SSASWENATV DTDIIQGTQD QAKHRFYRPP 450
TPGLRRVRQK KSVIGSVTLV SETEVQEKMI GQFSYSEERE SGENKSEYHM 500
FTHSCSKMSS VSNKPVLVQI NNNDQMEESS LERKKENSLL KSSAISAGVI 550
EITSQKMLEM SHNNGLPSTI SNNSIVEEDV VDCVVLDNKT GIKNFKTYGN 600
TNDRFSPISA DATHFSSNNS GTDKNISEAP ASEASSTVTA RIDRLINEFA 650
QCGLTKLPKN EKKILSSVAS KKKKKSRQQA INSRYQDGQL ATKGILNKNE 700
RINTKGRITK EMIVQDSDSP LKGGILCEED LQKSDTVIES NTFCSKSNLN 750
STISKNFHRN KLNTTQNSKV QGLLTKRKSR SLNKISLGAP KKREIGQRDK 800
VFPHNESKYC KSTFENKSLF HVFNILEQKP KDFYAPQSQA EVASGYLRGM 850
AKKSLVSKVT DSHITLKSQK KRKGDKVKAS AILSKQHATT RANSLASLKK 900
PDFPEAIAHH SIQNYIQSWL QNINPYPTLK PIKSAPVCRN ETSVVNCSNN 950
SFSGNDPHTN SGKISNFVME SNKHITKIAG LTGDNLCKEG DKSFIANDTG 1000
EEDLHETQVG SLNDAYLVPL HEHCTLSQSA INDHNTKSHI AAEKSGPEKK 1050
LVYQEINLAR KRQSVEAAIQ VDPIEEETPK DLLPVLMLHQ LQASVPGIHK 1100
TQNGVVQMPG SLAGVPFHSA ICNSSTNLLL AWLLVLNLKG SMNSFCQVDA 1150
HKATNKSSET LALLEILKHI AITEEADDLK AAVANLVEST TSHFGLSEKE 1200
QDMVPIDLSA NCSTVNIQSV PKCSENERTQ GISSLDGGCS ASEACAPEVC 1250
VLEVTCSPCE MCTVNKAYSP KETCNPSDTF FPSDGYGVDQ TSMNKACFLG 1300
EVCSLTDTVF SDKACAQKEN HTYEGACPID ETYVPVNVCN TIDFLNSKEN 1350
TYTDNLDSTE ELERGDDIQK DLNILTDPEY KNGFNTLVSH QNVSNLSSCG 1400
LCLSEKEAEL DKKHSSLDDF ENCSLRKFQD ENAYTSFDME EPRTSEEPGS 1450
ITNSMTSSER NISELESFEE LENHDTDIFN TVVNGGEQAT EELIQEEVEA 1500
SKTLELIDIS SKNIMEEKRM NGIIYEIISK RLATPPSLDF CYDSKQNSEK 1550
ETNEGETKMV KMMVKTMETG SYSESSPDLK KCIKSPVTSD WSDYRPDSDS 1600
EQPYKTSSDD PNDSGELTQE KEYNIGFVKR AIEKLYGKAD IIKPSFFPGS 1650
TRKSQVCPYN SVEFQCSRKA SLYDSEGQSF GSSEQVSSSS SMLQEFQEER 1700
QDKCDVSAVR DNYCRGDIVE PGTKQNDDSR ILTDIEEGVL IDKGKWLLKE 1750
NHLLRMSSEN PGMCGNADTT SVDTLLDNNS SEVPYSHFGN LAPGPTMDEL 1800
SSSELEELTQ PLELKCNYFN MPHGSDSEPF HEDLLDVRNE TCAKERIANH 1850
HTEEKGSHQS ERVCTSVTHS FISAGNKVYP VSDDAIKNQP LPGSNMIHGT 1900
LQEADSLDKL YALCGQHCPI LTVIIQPMNE EDRGFAYRKE SDIENFLGFY 1950
LWMKIHPYLL QTDKNVFREE NNKASMRQNL IDNAIGDIFD QFYFSNTFDL 2000
MGKRRKQKRI NFLGLEEEGN LKKFQPDLKE RFCMNFLHTS LLVVGNVDSN 2050
TQDLSGQTNE IFKAVDENNN LLNNRFQGSR TNLNQVVREN INCHYFFEML 2100
GQACLLDICQ VETSLNISNR NILELCMFEG ENLFIWEEED ILNLTDLESS 2150
REQEDL 2156
Length:2,156
Mass (Da):240,661
Last modified:May 30, 2000 - v1
Checksum:i55AEDBEC43D6A507
GO

Polymorphismi

Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIMi:145750] in the homozygous state.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681R → G.1 Publication
VAR_066948
Natural varianti172 – 1721L → R in RP1. 1 Publication
Corresponds to variant rs180729424 [ dbSNP | Ensembl ].
VAR_068351
Natural varianti202 – 2021D → E in RP1. 1 Publication
VAR_064182
Natural varianti218 – 2181A → T.1 Publication
Corresponds to variant rs145691085 [ dbSNP | Ensembl ].
VAR_066949
Natural varianti251 – 2511Y → C.
Corresponds to variant rs16920614 [ dbSNP | Ensembl ].
VAR_051323
Natural varianti373 – 3731T → I in RP1. 3 Publications
Corresponds to variant rs77775126 [ dbSNP | Ensembl ].
VAR_064183
Natural varianti376 – 3761R → L.1 Publication
VAR_066950
Natural varianti408 – 4081I → L.1 Publication
VAR_064466
Natural varianti663 – 6631K → N in RP1; unknown pathological significance. 2 Publications
VAR_064467
Natural varianti669 – 6691A → T in RP1. 1 Publication
VAR_064468
Natural varianti706 – 7061G → R.1 Publication
Corresponds to variant rs199879316 [ dbSNP | Ensembl ].
VAR_064469
Natural varianti727 – 7271C → W.1 Publication
VAR_064470
Natural varianti752 – 7521T → M.
Corresponds to variant rs28399531 [ dbSNP | Ensembl ].
VAR_051324
Natural varianti872 – 8721R → H.5 Publications
Corresponds to variant rs444772 [ dbSNP | Ensembl ].
VAR_007810
Natural varianti900 – 9001K → N in RP1. 1 Publication
VAR_066951
Natural varianti945 – 9451V → L.
Corresponds to variant rs16920621 [ dbSNP | Ensembl ].
VAR_051325
Natural varianti984 – 9841D → G in RP1. 1 Publication
VAR_064471
Natural varianti985 – 9851N → Y Associated with susceptibility to hypertriglyceridemia. 5 Publications
Corresponds to variant rs2293869 [ dbSNP | Ensembl ].
VAR_007811
Natural varianti1072 – 10721D → G.1 Publication
VAR_066952
Natural varianti1356 – 13561L → S.1 Publication
VAR_066953
Natural varianti1370 – 13701K → E in RP1; unknown pathological significance. 1 Publication
Corresponds to variant rs186594858 [ dbSNP | Ensembl ].
VAR_064472
Natural varianti1417 – 14171L → P.1 Publication
Corresponds to variant rs139294220 [ dbSNP | Ensembl ].
VAR_066954
Natural varianti1425 – 14251L → P.1 Publication
VAR_066955
Natural varianti1595 – 15951R → Q.2 Publications
Corresponds to variant rs35084330 [ dbSNP | Ensembl ].
VAR_051326
Natural varianti1652 – 16521R → L in RP1; unknown pathological significance. 1 Publication
VAR_064473
Natural varianti1670 – 16701A → T.4 Publications
Corresponds to variant rs446227 [ dbSNP | Ensembl ].
VAR_007812
Natural varianti1691 – 16911S → P.4 Publications
Corresponds to variant rs414352 [ dbSNP | Ensembl ].
VAR_007813
Natural varianti1793 – 17931P → S.2 Publications
Corresponds to variant rs143088423 [ dbSNP | Ensembl ].
VAR_066956
Natural varianti1808 – 18081L → P in RP1; unknown pathological significance. 1 Publication
VAR_064474
Natural varianti1935 – 19351F → L.1 Publication
Corresponds to variant rs140137224 [ dbSNP | Ensembl ].
VAR_066957
Natural varianti2033 – 20331C → Y.3 Publications
Corresponds to variant rs61739567 [ dbSNP | Ensembl ].
VAR_007814
Natural varianti2066 – 20661D → N.1 Publication
Corresponds to variant rs149282954 [ dbSNP | Ensembl ].
VAR_066958
Natural varianti2113 – 21131T → N in RP1. 1 Publication
Corresponds to variant rs137887415 [ dbSNP | Ensembl ].
VAR_066959

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF143226, AF143224, AF143225 Genomic DNA. Translation: AAD44197.1.
AF143222 mRNA. Translation: AAD44198.1.
AF141021 mRNA. Translation: AAD42072.1.
AF152242, AF152240, AF152241 Genomic DNA. Translation: AAD46774.1.
AF146592 mRNA. Translation: AAD46769.1.
AF128525 Genomic DNA. No translation available.
CCDSiCCDS6160.1.
RefSeqiNP_006260.1. NM_006269.1.
UniGeneiHs.732820.

Genome annotation databases

EnsembliENST00000220676; ENSP00000220676; ENSG00000104237.
GeneIDi6101.
KEGGihsa:6101.
UCSCiuc003xsd.1. human.

Polymorphism databases

DMDMi6225804.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

RetNet

Retinal information network

Mutations of the RP1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF143226 , AF143224 , AF143225 Genomic DNA. Translation: AAD44197.1 .
AF143222 mRNA. Translation: AAD44198.1 .
AF141021 mRNA. Translation: AAD42072.1 .
AF152242 , AF152240 , AF152241 Genomic DNA. Translation: AAD46774.1 .
AF146592 mRNA. Translation: AAD46769.1 .
AF128525 Genomic DNA. No translation available.
CCDSi CCDS6160.1.
RefSeqi NP_006260.1. NM_006269.1.
UniGenei Hs.732820.

3D structure databases

ProteinModelPortali P56715.
SMRi P56715. Positions 35-107.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000220676.

PTM databases

PhosphoSitei P56715.

Polymorphism databases

DMDMi 6225804.

Proteomic databases

MaxQBi P56715.
PaxDbi P56715.
PeptideAtlasi P56715.
PRIDEi P56715.

Protocols and materials databases

DNASUi 6101.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000220676 ; ENSP00000220676 ; ENSG00000104237 .
GeneIDi 6101.
KEGGi hsa:6101.
UCSCi uc003xsd.1. human.

Organism-specific databases

CTDi 6101.
GeneCardsi GC08P055539.
GeneReviewsi RP1.
HGNCi HGNC:10263. RP1.
HPAi HPA042257.
MIMi 145750. phenotype.
180100. phenotype.
603937. gene.
neXtProti NX_P56715.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA34635.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG313727.
HOGENOMi HOG000136857.
HOVERGENi HBG018173.
InParanoidi P56715.
OMAi EYHMFTH.
OrthoDBi EOG7N37DH.
PhylomeDBi P56715.
TreeFami TF318770.

Miscellaneous databases

GeneWikii RP1.
GenomeRNAii 6101.
NextBioi 23733.
PROi P56715.
SOURCEi Search...

Gene expression databases

Bgeei P56715.
CleanExi HS_RP1.
Genevestigatori P56715.

Family and domain databases

Gene3Di 3.10.20.230. 2 hits.
InterProi IPR003533. Doublecortin_dom.
[Graphical view ]
Pfami PF03607. DCX. 2 hits.
[Graphical view ]
SMARTi SM00537. DCX. 2 hits.
[Graphical view ]
PROSITEi PS50309. DC. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa."
    Sullivan L.S., Heckenlively J.R., Bowne S.J., Zuo J., Hide W.A., Gal A., Denton M., Inglehearn C.F., Blanton S.H., Daiger S.P.
    Nat. Genet. 22:255-259(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS HIS-872; TYR-985; THR-1670; PRO-1691 AND TYR-2033.
    Tissue: Retina.
  2. "Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa."
    Pierce E.A., Quinn T., Meehan T., McGee T.L., Berson E.L., Dryja T.P.
    Nat. Genet. 22:248-254(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN RP1.
    Tissue: Retina.
  3. "A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus."
    Guillonneau X., Piriev N.I., Danciger M., Kozak C.A., Cideciyan A.V., Jacobson S.G., Farber D.B.
    Hum. Mol. Genet. 8:1541-1546(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors."
    Liu Q., Zhou J., Daiger S.P., Farber D.B., Heckenlively J.R., Smith J.E., Sullivan L.S., Zuo J., Milam A.H., Pierce E.A.
    Invest. Ophthalmol. Vis. Sci. 43:22-32(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  6. "RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation."
    Audo I., Mohand-Said S., Dhaenens C.M., Germain A., Orhan E., Antonio A., Hamel C., Sahel J.A., Bhattacharya S.S., Zeitz C.
    Hum. Mutat. 33:73-80(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RP1.
  7. Cited for: VARIANTS RP1 ASN-663 AND PRO-1808, VARIANT GLN-1595.
  8. "RP1 protein truncating mutations predominate at the RP1 adRP locus."
    Payne A., Vithana E., Khaliq S., Hameed A., Deller J., Abu-Safieh L., Kermani S., Leroy B.P., Mehdi S.Q., Moore A.T., Bird A.C., Bhattacharya S.S.
    Invest. Ophthalmol. Vis. Sci. 41:4069-4073(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP1 ILE-373; ASN-663; ASN-900 AND ASN-2113, VARIANTS HIS-872; TYR-985; GLN-1595; THR-1670; PRO-1691 AND SER-1793.
  9. "Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)."
    Berson E.L., Grimsby J.L., Adams S.M., McGee T.L., Sweklo E., Pierce E.A., Sandberg M.A., Dryja T.P.
    Invest. Ophthalmol. Vis. Sci. 42:2217-2224(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLY-168; THR-218; ILE-373; LEU-376; HIS-872; TYR-985; GLY-1072; SER-1356; PRO-1417; PRO-1425; THR-1670; PRO-1691; SER-1793; LEU-1935; TYR-2033 AND ASN-2066.
  10. "Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene."
    Fujita Y., Ezura Y., Emi M., Ono S., Takada D., Takahashi K., Uemura K., Iino Y., Katayama Y., Bujo H., Saito Y.
    J. Hum. Genet. 48:305-308(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION OF VARIANT TYR-985 WITH HYPERTRIGLYCERIDEMIA.
  11. "Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa."
    Khaliq S., Abid A., Ismail M., Hameed A., Mohyuddin A., Lall P., Aziz A., Anwar K., Mehdi S.Q.
    J. Med. Genet. 42:436-438(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP1 ILE-373 AND THR-669.
  12. "A novel missense RP1 mutation in retinitis pigmentosa."
    Chiang S.W., Wang D.Y., Chan W.M., Tam P.O., Chong K.K., Lam D.S., Pang C.P.
    Eye 20:602-605(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP1 GLY-984, VARIANTS TRP-727 AND HIS-872.
  13. "Molecular characterization of retinitis pigmentosa in Saudi Arabia."
    Aldahmesh M.A., Safieh L.A., Alkuraya H., Al-Rajhi A., Shamseldin H., Hashem M., Alzahrani F., Khan A.O., Alqahtani F., Rahbeeni Z., Alowain M., Khalak H., Al-Hazzaa S., Meyer B.F., Alkuraya F.S.
    Mol. Vis. 15:2464-2469(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP1 GLU-202.
  14. "Differential pattern of RP1 mutations in retinitis pigmentosa."
    Zhang X., Chen L.J., Law J.P., Lai T.Y., Chiang S.W., Tam P.O., Chu K.Y., Wang N., Zhang M., Pang C.P.
    Mol. Vis. 16:1353-1360(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP1 GLU-1370 AND LEU-1652, VARIANTS LEU-408; ARG-706; HIS-872; TYR-985; THR-1670; PRO-1691 AND TYR-2033.
  15. Cited for: VARIANT RP1 ARG-172.

Entry informationi

Entry nameiRP1_HUMAN
AccessioniPrimary (citable) accession number: P56715
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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