P56715 (RP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Oxygen-regulated protein 1

Alternative name(s):
Retinitis pigmentosa 1 protein
Retinitis pigmentosa RP1 protein

Gene names

Name:	RP1
Synonyms:	ORP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2156 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › cilium axoneme By similarity. Cell projection › cilium › photoreceptor 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 process	Cilium biogenesis/degradation Sensory transduction Vision
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Microtubule
Coding sequence diversity	Polymorphism
Disease	Disease mutation Retinitis pigmentosa
Domain	Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axoneme assembly Inferred from sequence or structural similarity. Source: UniProtKB cellular response to light stimulus Inferred from electronic annotation. Source: Compara intracellular signal transduction Inferred from electronic annotation. Source: InterPro 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
Cellular_component	cilium axoneme Inferred from electronic annotation. Source: UniProtKB-SubCell 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_function	microtubule binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2156	2156	Oxygen-regulated protein 1		PRO_0000097410
Regions
	Domain	36 – 118	83	Doublecortin 1
	Domain	154 – 233	80	Doublecortin 2
	Compositional bias	268 – 273	6	Poly-Ser
	Compositional bias	671 – 675	5	Poly-Lys
	Compositional bias	1687 – 1691	5	Poly-Ser
Natural variations
	Natural variant	168	1	R → G. Ref.9		VAR_066948
	Natural variant	172	1	L → R in RP1. Ref.15		VAR_068351
	Natural variant	202	1	D → E in RP1. Ref.13		VAR_064182
	Natural variant	218	1	A → T. Ref.9 Corresponds to variant rs145691085 [ dbSNP | Ensembl ].		VAR_066949
	Natural variant	251	1	Y → C. Corresponds to variant rs16920614 [ dbSNP | Ensembl ].		VAR_051323
	Natural variant	373	1	T → I in RP1. Ref.8 Ref.9 Ref.11		VAR_064183
	Natural variant	376	1	R → L. Ref.9		VAR_066950
	Natural variant	408	1	I → L. Ref.14		VAR_064466
	Natural variant	663	1	K → N in RP1; uncertain pathogenicity. Ref.7 Ref.8		VAR_064467
	Natural variant	669	1	A → T in RP1. Ref.11		VAR_064468
	Natural variant	706	1	G → R. Ref.14		VAR_064469
	Natural variant	727	1	C → W. Ref.12		VAR_064470
	Natural variant	752	1	T → M. Corresponds to variant rs28399531 [ dbSNP | Ensembl ].		VAR_051324
	Natural variant	872	1	R → H. Ref.1 Ref.8 Ref.9 Ref.12 Ref.14 Corresponds to variant rs444772 [ dbSNP | Ensembl ].		VAR_007810
	Natural variant	900	1	K → N in RP1. Ref.8		VAR_066951
	Natural variant	945	1	V → L. Corresponds to variant rs16920621 [ dbSNP | Ensembl ].		VAR_051325
	Natural variant	984	1	D → G in RP1. Ref.12		VAR_064471
	Natural variant	985	1	N → 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 variant	1072	1	D → G. Ref.9		VAR_066952
	Natural variant	1356	1	L → S. Ref.9		VAR_066953
	Natural variant	1370	1	K → E in RP1; uncertain pathogenicity. Ref.14		VAR_064472
	Natural variant	1417	1	L → P. Ref.9 Corresponds to variant rs139294220 [ dbSNP | Ensembl ].		VAR_066954
	Natural variant	1425	1	L → P. Ref.9		VAR_066955
	Natural variant	1595	1	R → Q. Ref.7 Ref.8 Corresponds to variant rs35084330 [ dbSNP | Ensembl ].		VAR_051326
	Natural variant	1652	1	R → L in RP1; uncertain pathogenicity. Ref.14		VAR_064473
	Natural variant	1670	1	A → T. Ref.1 Ref.8 Ref.9 Ref.14 Corresponds to variant rs446227 [ dbSNP | Ensembl ].		VAR_007812
	Natural variant	1691	1	S → P. Ref.1 Ref.8 Ref.9 Ref.14 Corresponds to variant rs414352 [ dbSNP | Ensembl ].		VAR_007813
	Natural variant	1793	1	P → S. Ref.8 Ref.9 Corresponds to variant rs143088423 [ dbSNP | Ensembl ].		VAR_066956
	Natural variant	1808	1	L → P in RP1; uncertain pathogenicity. Ref.7		VAR_064474
	Natural variant	1935	1	F → L. Ref.9 Corresponds to variant rs140137224 [ dbSNP | Ensembl ].		VAR_066957
	Natural variant	2033	1	C → Y. Ref.1 Ref.9 Ref.14		VAR_007814
	Natural variant	2066	1	D → N. Ref.9 Corresponds to variant rs149282954 [ dbSNP | Ensembl ].		VAR_066958
	Natural variant	2113	1	T → N in RP1. Ref.8 Corresponds to variant rs137887415 [ dbSNP | Ensembl ].		VAR_066959

Sequences

	Sequence		Length	Mass (Da)
	P56715 [UniParc]. Last modified May 30, 2000. Version 1. Checksum: 55AEDBEC43D6A507	FASTA	2,156	240,661
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00011044.
RefSeq	NP_006260.1. NM_006269.1.
UniGene	Hs.732820.
3D structure databases
ProteinModelPortal	P56715.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000220676.
PTM databases
PhosphoSite	P56715.
Polymorphism databases
DMDM	6225804.
Proteomic databases
PaxDb	P56715.
PeptideAtlas	P56715.
PRIDE	P56715.
Protocols and materials databases
DNASU	6101.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000220676; ENSP00000220676; ENSG00000104237.
GeneID	6101.
KEGG	hsa:6101.
UCSC	uc003xsd.1. human.
Organism-specific databases
CTD	6101.
GeneCards	GC08P055467.
HGNC	HGNC:10263. RP1.
HPA	HPA042257.
MIM	145750. phenotype. 180100. phenotype. 603937. gene.
neXtProt	NX_P56715.
Orphanet	791. Retinitis pigmentosa.
PharmGKB	PA34635.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG313727.
HOGENOM	HOG000136857.
HOVERGEN	HBG018173.
InParanoid	P56715.
OMA	NPRSFKT.
OrthoDB	EOG4M91QJ.
PhylomeDB	P56715.
Gene expression databases
ArrayExpress	P56715.
Bgee	P56715.
CleanEx	HS_RP1.
Genevestigator	P56715.
GermOnline	ENSG00000104237. Homo sapiens.
Family and domain databases
Gene3D	3.10.20.230. 2 hits.
InterPro	IPR003533. Doublecortin_dom. [Graphical view]
Pfam	PF03607. DCX. 2 hits. [Graphical view]
SMART	SM00537. DCX. 2 hits. [Graphical view]
SUPFAM	SSF89837. Doublecortin_dom. 2 hits.
PROSITE	PS50309. DC. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6101.
NextBio	23733.
SOURCE	Search...

Entry information

Entry name

RP1_HUMAN

Accession

Primary (citable) accession number: P56715

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 30, 2000
Last modified:	May 1, 2013
This is version 105 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.