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P56715 (RP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Oxygen-regulated protein 1
Alternative name(s):
Retinitis pigmentosa 1 protein
Retinitis pigmentosa RP1 protein
Gene names
Name:RP1
Synonyms:ORP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2156 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cytoplasmcytoskeletoncilium axoneme By similarity. Cell projectionciliumphotoreceptor outer segment. Note: Specifically localized in the connecting cilia of rod and cone photoreceptors. Ref.5

Tissue specificity

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

Domain

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

Polymorphism

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

Involvement in disease

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. Ref.2 Ref.6 Ref.7 Ref.8 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15

Sequence similarities

Contains 2 doublecortin domains.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Sensory transduction
Vision
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
Microtubule
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Retinitis pigmentosa
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxoneme assembly

Inferred from sequence or structural similarity. Source: UniProtKB

cellular response to light stimulus

Inferred from electronic annotation. Source: Ensembl

intracellular signal transduction

Inferred from electronic annotation. Source: InterPro

photoreceptor cell development

Inferred from sequence or structural similarity. Source: UniProtKB

photoreceptor cell maintenance

Inferred from sequence or structural similarity. Source: UniProtKB

photoreceptor cell outer segment organization

Inferred from sequence or structural similarity. Source: UniProtKB

phototransduction, visible light

Traceable author statement Ref.2. Source: ProtInc

retinal cone cell development

Inferred from sequence or structural similarity. Source: UniProtKB

retinal rod cell development

Inferred from sequence or structural similarity. Source: UniProtKB

visual perception

Traceable author statement Ref.2. Source: ProtInc

   Cellular_componentaxoneme

Inferred from electronic annotation. Source: Ensembl

microtubule

Inferred from electronic annotation. Source: UniProtKB-KW

microtubule associated complex

Inferred from sequence or structural similarity. Source: UniProtKB

photoreceptor connecting cilium

Inferred from direct assay PubMed 11767049. Source: MGI

photoreceptor inner segment

Inferred from direct assay Ref.5. Source: UniProtKB

photoreceptor outer segment

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionmicrotubule binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 21562156Oxygen-regulated protein 1
PRO_0000097410

Regions

Domain36 – 11883Doublecortin 1
Domain154 – 23380Doublecortin 2
Compositional bias268 – 2736Poly-Ser
Compositional bias671 – 6755Poly-Lys
Compositional bias1687 – 16915Poly-Ser

Natural variations

Natural variant1681R → G. Ref.9
VAR_066948
Natural variant1721L → R in RP1. Ref.15
Corresponds to variant rs180729424 [ dbSNP | Ensembl ].
VAR_068351
Natural variant2021D → E in RP1. Ref.13
VAR_064182
Natural variant2181A → T. Ref.9
Corresponds to variant rs145691085 [ dbSNP | Ensembl ].
VAR_066949
Natural variant2511Y → C.
Corresponds to variant rs16920614 [ dbSNP | Ensembl ].
VAR_051323
Natural variant3731T → I in RP1. Ref.8 Ref.9 Ref.11
Corresponds to variant rs77775126 [ dbSNP | Ensembl ].
VAR_064183
Natural variant3761R → L. Ref.9
VAR_066950
Natural variant4081I → L. Ref.14
VAR_064466
Natural variant6631K → N in RP1; unknown pathological significance. Ref.7 Ref.8
VAR_064467
Natural variant6691A → T in RP1. Ref.11
VAR_064468
Natural variant7061G → R. Ref.14
Corresponds to variant rs199879316 [ dbSNP | Ensembl ].
VAR_064469
Natural variant7271C → W. Ref.12
VAR_064470
Natural variant7521T → M.
Corresponds to variant rs28399531 [ dbSNP | Ensembl ].
VAR_051324
Natural variant8721R → H. Ref.1 Ref.8 Ref.9 Ref.12 Ref.14
Corresponds to variant rs444772 [ dbSNP | Ensembl ].
VAR_007810
Natural variant9001K → N in RP1. Ref.8
VAR_066951
Natural variant9451V → L.
Corresponds to variant rs16920621 [ dbSNP | Ensembl ].
VAR_051325
Natural variant9841D → G in RP1. Ref.12
VAR_064471
Natural variant9851N → Y Associated with susceptibility to hypertriglyceridemia. Ref.1 Ref.8 Ref.9 Ref.10 Ref.14
Corresponds to variant rs2293869 [ dbSNP | Ensembl ].
VAR_007811
Natural variant10721D → G. Ref.9
VAR_066952
Natural variant13561L → S. Ref.9
VAR_066953
Natural variant13701K → E in RP1; unknown pathological significance. Ref.14
Corresponds to variant rs186594858 [ dbSNP | Ensembl ].
VAR_064472
Natural variant14171L → P. Ref.9
Corresponds to variant rs139294220 [ dbSNP | Ensembl ].
VAR_066954
Natural variant14251L → P. Ref.9
VAR_066955
Natural variant15951R → Q. Ref.7 Ref.8
Corresponds to variant rs35084330 [ dbSNP | Ensembl ].
VAR_051326
Natural variant16521R → L in RP1; unknown pathological significance. Ref.14
VAR_064473
Natural variant16701A → T. Ref.1 Ref.8 Ref.9 Ref.14
Corresponds to variant rs446227 [ dbSNP | Ensembl ].
VAR_007812
Natural variant16911S → P. Ref.1 Ref.8 Ref.9 Ref.14
Corresponds to variant rs414352 [ dbSNP | Ensembl ].
VAR_007813
Natural variant17931P → S. Ref.8 Ref.9
Corresponds to variant rs143088423 [ dbSNP | Ensembl ].
VAR_066956
Natural variant18081L → P in RP1; unknown pathological significance. Ref.7
VAR_064474
Natural variant19351F → L. Ref.9
Corresponds to variant rs140137224 [ dbSNP | Ensembl ].
VAR_066957
Natural variant20331C → Y. Ref.1 Ref.9 Ref.14
Corresponds to variant rs61739567 [ dbSNP | Ensembl ].
VAR_007814
Natural variant20661D → N. Ref.9
Corresponds to variant rs149282954 [ dbSNP | Ensembl ].
VAR_066958
Natural variant21131T → N in RP1. Ref.8
Corresponds to variant rs137887415 [ dbSNP | Ensembl ].
VAR_066959

Sequences

Sequence LengthMass (Da)Tools
P56715 [UniParc].

Last modified May 30, 2000. Version 1.
Checksum: 55AEDBEC43D6A507

FASTA2,156240,661
        10         20         30         40         50         60 
MSDTPSTGFS IIHPTSSEGQ VPPPRHLSLT HPVVAKRISF YKSGDPQFGG VRVVVNPRSF 

        70         80         90        100        110        120 
KSFDALLDNL SRKVPLPFGV RNISTPRGRH SITRLEELED GESYLCSHGR KVQPVDLDKA 

       130        140        150        160        170        180 
RRRPRPWLSS RAISAHSPPH PVAVAAPGMP RPPRSLVVFR NGDPKTRRAV LLSRRVTQSF 

       190        200        210        220        230        240 
EAFLQHLTEV MQRPVVKLYA TDGRRVPSLQ AVILSSGAVV AAGREPFKPG NYDIQKYLLP 

       250        260        270        280        290        300 
ARLPGISQRV YPKGNAKSES RKISTHMSSS SRSQIYSVSS EKTHNNDCYL DYSFVPEKYL 

       310        320        330        340        350        360 
ALEKNDSQNL PIYPSEDDIE KSIIFNQDGT MTVEMKVRFR IKEEETIKWT TTVSKTGPSN 

       370        380        390        400        410        420 
NDEKSEMSFP GRTESRSSGL KLAACSFSAD VSPMERSSNQ EGSLAEEINI QMTDQVAETC 

       430        440        450        460        470        480 
SSASWENATV DTDIIQGTQD QAKHRFYRPP TPGLRRVRQK KSVIGSVTLV SETEVQEKMI 

       490        500        510        520        530        540 
GQFSYSEERE SGENKSEYHM FTHSCSKMSS VSNKPVLVQI NNNDQMEESS LERKKENSLL 

       550        560        570        580        590        600 
KSSAISAGVI EITSQKMLEM SHNNGLPSTI SNNSIVEEDV VDCVVLDNKT GIKNFKTYGN 

       610        620        630        640        650        660 
TNDRFSPISA DATHFSSNNS GTDKNISEAP ASEASSTVTA RIDRLINEFA QCGLTKLPKN 

       670        680        690        700        710        720 
EKKILSSVAS KKKKKSRQQA INSRYQDGQL ATKGILNKNE RINTKGRITK EMIVQDSDSP 

       730        740        750        760        770        780 
LKGGILCEED LQKSDTVIES NTFCSKSNLN STISKNFHRN KLNTTQNSKV QGLLTKRKSR 

       790        800        810        820        830        840 
SLNKISLGAP KKREIGQRDK VFPHNESKYC KSTFENKSLF HVFNILEQKP KDFYAPQSQA 

       850        860        870        880        890        900 
EVASGYLRGM AKKSLVSKVT DSHITLKSQK KRKGDKVKAS AILSKQHATT RANSLASLKK 

       910        920        930        940        950        960 
PDFPEAIAHH SIQNYIQSWL QNINPYPTLK PIKSAPVCRN ETSVVNCSNN SFSGNDPHTN 

       970        980        990       1000       1010       1020 
SGKISNFVME SNKHITKIAG LTGDNLCKEG DKSFIANDTG EEDLHETQVG SLNDAYLVPL 

      1030       1040       1050       1060       1070       1080 
HEHCTLSQSA INDHNTKSHI AAEKSGPEKK LVYQEINLAR KRQSVEAAIQ VDPIEEETPK 

      1090       1100       1110       1120       1130       1140 
DLLPVLMLHQ LQASVPGIHK TQNGVVQMPG SLAGVPFHSA ICNSSTNLLL AWLLVLNLKG 

      1150       1160       1170       1180       1190       1200 
SMNSFCQVDA HKATNKSSET LALLEILKHI AITEEADDLK AAVANLVEST TSHFGLSEKE 

      1210       1220       1230       1240       1250       1260 
QDMVPIDLSA NCSTVNIQSV PKCSENERTQ GISSLDGGCS ASEACAPEVC VLEVTCSPCE 

      1270       1280       1290       1300       1310       1320 
MCTVNKAYSP KETCNPSDTF FPSDGYGVDQ TSMNKACFLG EVCSLTDTVF SDKACAQKEN 

      1330       1340       1350       1360       1370       1380 
HTYEGACPID ETYVPVNVCN TIDFLNSKEN TYTDNLDSTE ELERGDDIQK DLNILTDPEY 

      1390       1400       1410       1420       1430       1440 
KNGFNTLVSH QNVSNLSSCG LCLSEKEAEL DKKHSSLDDF ENCSLRKFQD ENAYTSFDME 

      1450       1460       1470       1480       1490       1500 
EPRTSEEPGS ITNSMTSSER NISELESFEE LENHDTDIFN TVVNGGEQAT EELIQEEVEA 

      1510       1520       1530       1540       1550       1560 
SKTLELIDIS SKNIMEEKRM NGIIYEIISK RLATPPSLDF CYDSKQNSEK ETNEGETKMV 

      1570       1580       1590       1600       1610       1620 
KMMVKTMETG SYSESSPDLK KCIKSPVTSD WSDYRPDSDS EQPYKTSSDD PNDSGELTQE 

      1630       1640       1650       1660       1670       1680 
KEYNIGFVKR AIEKLYGKAD IIKPSFFPGS TRKSQVCPYN SVEFQCSRKA SLYDSEGQSF 

      1690       1700       1710       1720       1730       1740 
GSSEQVSSSS SMLQEFQEER QDKCDVSAVR DNYCRGDIVE PGTKQNDDSR ILTDIEEGVL 

      1750       1760       1770       1780       1790       1800 
IDKGKWLLKE NHLLRMSSEN PGMCGNADTT SVDTLLDNNS SEVPYSHFGN LAPGPTMDEL 

      1810       1820       1830       1840       1850       1860 
SSSELEELTQ PLELKCNYFN MPHGSDSEPF HEDLLDVRNE TCAKERIANH HTEEKGSHQS 

      1870       1880       1890       1900       1910       1920 
ERVCTSVTHS FISAGNKVYP VSDDAIKNQP LPGSNMIHGT LQEADSLDKL YALCGQHCPI 

      1930       1940       1950       1960       1970       1980 
LTVIIQPMNE EDRGFAYRKE SDIENFLGFY LWMKIHPYLL QTDKNVFREE NNKASMRQNL 

      1990       2000       2010       2020       2030       2040 
IDNAIGDIFD QFYFSNTFDL MGKRRKQKRI NFLGLEEEGN LKKFQPDLKE RFCMNFLHTS 

      2050       2060       2070       2080       2090       2100 
LLVVGNVDSN TQDLSGQTNE IFKAVDENNN LLNNRFQGSR TNLNQVVREN INCHYFFEML 

      2110       2120       2130       2140       2150 
GQACLLDICQ VETSLNISNR NILELCMFEG ENLFIWEEED ILNLTDLESS REQEDL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa."
Bowne S.J., Daiger S.P., Hims M.M., Sohocki M.M., Malone K.A., McKie A.B., Heckenlively J.R., Birch D.G., Inglehearn C.F., Bhattacharya S.S., Bird A., Sullivan L.S.
Hum. Mol. Genet. 8:2121-2128(1999) [PubMed] [Europe PMC] [Abstract]
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]"Next-generation genetic testing for retinitis pigmentosa."
Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L., Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J., Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U., Branham K.E., den Hollander A.I., Hoischen A., Hoyng C. expand/collapse author list , Klevering B.J., van den Born L.I., Veltman J.A., Cremers F.P., Scheffer H.
Hum. Mutat. 33:963-972(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RP1 ARG-172.
+Additional computationally mapped references.

Web resources

RetNet

Retinal information network

Mutations of the RP1 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_006260.1. NM_006269.1.
UniGeneHs.732820.

3D structure databases

ProteinModelPortalP56715.
SMRP56715. Positions 34-135, 151-235.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000220676.

PTM databases

PhosphoSiteP56715.

Polymorphism databases

DMDM6225804.

Proteomic databases

PaxDbP56715.
PeptideAtlasP56715.
PRIDEP56715.

Protocols and materials databases

DNASU6101.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000220676; ENSP00000220676; ENSG00000104237.
GeneID6101.
KEGGhsa:6101.
UCSCuc003xsd.1. human.

Organism-specific databases

CTD6101.
GeneCardsGC08P055539.
HGNCHGNC:10263. RP1.
HPAHPA042257.
MIM145750. phenotype.
180100. phenotype.
603937. gene.
neXtProtNX_P56715.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA34635.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG313727.
HOGENOMHOG000136857.
HOVERGENHBG018173.
InParanoidP56715.
OMAEYHMFTH.
OrthoDBEOG7N37DH.
PhylomeDBP56715.
TreeFamTF318770.

Gene expression databases

BgeeP56715.
CleanExHS_RP1.
GenevestigatorP56715.

Family and domain databases

Gene3D3.10.20.230. 2 hits.
InterProIPR003533. Doublecortin_dom.
[Graphical view]
PfamPF03607. DCX. 2 hits.
[Graphical view]
SMARTSM00537. DCX. 2 hits.
[Graphical view]
PROSITEPS50309. DC. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRP1.
GenomeRNAi6101.
NextBio23733.
PROP56715.
SOURCESearch...

Entry information

Entry nameRP1_HUMAN
AccessionPrimary (citable) accession number: P56715
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: April 16, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM