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Protein

Oxygen-regulated protein 1

Gene

RP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCilium 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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104237.6
HGNCiHGNC:10263 RP1
MIMi603937 gene
neXtProtiNX_P56715

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 1 (RP1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:180100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068351172L → R in RP1. 1 PublicationCorresponds to variant dbSNP:rs180729424EnsemblClinVar.1
Natural variantiVAR_064182202D → E in RP1. 1 Publication1
Natural variantiVAR_064183373T → I in RP1; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs77775126EnsemblClinVar.1
Natural variantiVAR_064467663K → N in RP1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs372551375Ensembl.1
Natural variantiVAR_064468669A → T in RP1. 1 PublicationCorresponds to variant dbSNP:rs201725231Ensembl.1
Natural variantiVAR_066951900K → N in RP1. 1 Publication1
Natural variantiVAR_064471984D → G in RP1. 1 PublicationCorresponds to variant dbSNP:rs200135800Ensembl.1
Natural variantiVAR_0644721370K → E in RP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs186594858Ensembl.1
Natural variantiVAR_0644731652R → L in RP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760740229Ensembl.1
Natural variantiVAR_0644741808L → P in RP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371969576Ensembl.1
Natural variantiVAR_0669592113T → N in RP1. 1 PublicationCorresponds to variant dbSNP:rs137887415Ensembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi6101
GeneReviewsiRP1
MalaCardsiRP1
MIMi145750 phenotype
180100 phenotype
OpenTargetsiENSG00000104237
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA34635

Polymorphism and mutation databases

BioMutaiRP1
DMDMi6225804

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000974101 – 2156Oxygen-regulated protein 1Add BLAST2156

Proteomic databases

EPDiP56715
MaxQBiP56715
PaxDbiP56715
PeptideAtlasiP56715
PRIDEiP56715
ProteomicsDBi56940

PTM databases

iPTMnetiP56715
PhosphoSitePlusiP56715

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000104237 Expressed in 18 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_RP1
ExpressionAtlasiP56715 baseline and differential
GenevisibleiP56715 HS

Organism-specific databases

HPAiHPA042257

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000220676

Structurei

3D structure databases

ProteinModelPortaliP56715
SMRiP56715
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini36 – 118Doublecortin 1PROSITE-ProRule annotationAdd BLAST83
Domaini154 – 233Doublecortin 2PROSITE-ProRule annotationAdd BLAST80

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi268 – 273Poly-Ser6
Compositional biasi671 – 675Poly-Lys5
Compositional biasi1687 – 1691Poly-Ser5

Domaini

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1181 Eukaryota
KOG3757 Eukaryota
ENOG410ZE6Q LUCA
GeneTreeiENSGT00920000149015
HOGENOMiHOG000136857
HOVERGENiHBG018173
InParanoidiP56715
KOiK19538
OrthoDBiEOG091G00UF
PhylomeDBiP56715
TreeFamiTF318770

Family and domain databases

CDDicd01617 DCX, 2 hits
Gene3Di3.10.20.230, 2 hits
InterProiView protein in InterPro
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
IPR033013 Rp1
PANTHERiPTHR23005:SF4 PTHR23005:SF4, 1 hit
PfamiView protein in Pfam
PF03607 DCX, 2 hits
SMARTiView protein in SMART
SM00537 DCX, 2 hits
SUPFAMiSSF89837 SSF89837, 2 hits
PROSITEiView protein in PROSITE
PS50309 DC, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P56715-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSDTPSTGFS IIHPTSSEGQ VPPPRHLSLT HPVVAKRISF YKSGDPQFGG
60 70 80 90 100
VRVVVNPRSF KSFDALLDNL SRKVPLPFGV RNISTPRGRH SITRLEELED
110 120 130 140 150
GESYLCSHGR KVQPVDLDKA RRRPRPWLSS RAISAHSPPH PVAVAAPGMP
160 170 180 190 200
RPPRSLVVFR NGDPKTRRAV LLSRRVTQSF EAFLQHLTEV MQRPVVKLYA
210 220 230 240 250
TDGRRVPSLQ AVILSSGAVV AAGREPFKPG NYDIQKYLLP ARLPGISQRV
260 270 280 290 300
YPKGNAKSES RKISTHMSSS SRSQIYSVSS EKTHNNDCYL DYSFVPEKYL
310 320 330 340 350
ALEKNDSQNL PIYPSEDDIE KSIIFNQDGT MTVEMKVRFR IKEEETIKWT
360 370 380 390 400
TTVSKTGPSN NDEKSEMSFP GRTESRSSGL KLAACSFSAD VSPMERSSNQ
410 420 430 440 450
EGSLAEEINI QMTDQVAETC SSASWENATV DTDIIQGTQD QAKHRFYRPP
460 470 480 490 500
TPGLRRVRQK KSVIGSVTLV SETEVQEKMI GQFSYSEERE SGENKSEYHM
510 520 530 540 550
FTHSCSKMSS VSNKPVLVQI NNNDQMEESS LERKKENSLL KSSAISAGVI
560 570 580 590 600
EITSQKMLEM SHNNGLPSTI SNNSIVEEDV VDCVVLDNKT GIKNFKTYGN
610 620 630 640 650
TNDRFSPISA DATHFSSNNS GTDKNISEAP ASEASSTVTA RIDRLINEFA
660 670 680 690 700
QCGLTKLPKN EKKILSSVAS KKKKKSRQQA INSRYQDGQL ATKGILNKNE
710 720 730 740 750
RINTKGRITK EMIVQDSDSP LKGGILCEED LQKSDTVIES NTFCSKSNLN
760 770 780 790 800
STISKNFHRN KLNTTQNSKV QGLLTKRKSR SLNKISLGAP KKREIGQRDK
810 820 830 840 850
VFPHNESKYC KSTFENKSLF HVFNILEQKP KDFYAPQSQA EVASGYLRGM
860 870 880 890 900
AKKSLVSKVT DSHITLKSQK KRKGDKVKAS AILSKQHATT RANSLASLKK
910 920 930 940 950
PDFPEAIAHH SIQNYIQSWL QNINPYPTLK PIKSAPVCRN ETSVVNCSNN
960 970 980 990 1000
SFSGNDPHTN SGKISNFVME SNKHITKIAG LTGDNLCKEG DKSFIANDTG
1010 1020 1030 1040 1050
EEDLHETQVG SLNDAYLVPL HEHCTLSQSA INDHNTKSHI AAEKSGPEKK
1060 1070 1080 1090 1100
LVYQEINLAR KRQSVEAAIQ VDPIEEETPK DLLPVLMLHQ LQASVPGIHK
1110 1120 1130 1140 1150
TQNGVVQMPG SLAGVPFHSA ICNSSTNLLL AWLLVLNLKG SMNSFCQVDA
1160 1170 1180 1190 1200
HKATNKSSET LALLEILKHI AITEEADDLK AAVANLVEST TSHFGLSEKE
1210 1220 1230 1240 1250
QDMVPIDLSA NCSTVNIQSV PKCSENERTQ GISSLDGGCS ASEACAPEVC
1260 1270 1280 1290 1300
VLEVTCSPCE MCTVNKAYSP KETCNPSDTF FPSDGYGVDQ TSMNKACFLG
1310 1320 1330 1340 1350
EVCSLTDTVF SDKACAQKEN HTYEGACPID ETYVPVNVCN TIDFLNSKEN
1360 1370 1380 1390 1400
TYTDNLDSTE ELERGDDIQK DLNILTDPEY KNGFNTLVSH QNVSNLSSCG
1410 1420 1430 1440 1450
LCLSEKEAEL DKKHSSLDDF ENCSLRKFQD ENAYTSFDME EPRTSEEPGS
1460 1470 1480 1490 1500
ITNSMTSSER NISELESFEE LENHDTDIFN TVVNGGEQAT EELIQEEVEA
1510 1520 1530 1540 1550
SKTLELIDIS SKNIMEEKRM NGIIYEIISK RLATPPSLDF CYDSKQNSEK
1560 1570 1580 1590 1600
ETNEGETKMV KMMVKTMETG SYSESSPDLK KCIKSPVTSD WSDYRPDSDS
1610 1620 1630 1640 1650
EQPYKTSSDD PNDSGELTQE KEYNIGFVKR AIEKLYGKAD IIKPSFFPGS
1660 1670 1680 1690 1700
TRKSQVCPYN SVEFQCSRKA SLYDSEGQSF GSSEQVSSSS SMLQEFQEER
1710 1720 1730 1740 1750
QDKCDVSAVR DNYCRGDIVE PGTKQNDDSR ILTDIEEGVL IDKGKWLLKE
1760 1770 1780 1790 1800
NHLLRMSSEN PGMCGNADTT SVDTLLDNNS SEVPYSHFGN LAPGPTMDEL
1810 1820 1830 1840 1850
SSSELEELTQ PLELKCNYFN MPHGSDSEPF HEDLLDVRNE TCAKERIANH
1860 1870 1880 1890 1900
HTEEKGSHQS ERVCTSVTHS FISAGNKVYP VSDDAIKNQP LPGSNMIHGT
1910 1920 1930 1940 1950
LQEADSLDKL YALCGQHCPI LTVIIQPMNE EDRGFAYRKE SDIENFLGFY
1960 1970 1980 1990 2000
LWMKIHPYLL QTDKNVFREE NNKASMRQNL IDNAIGDIFD QFYFSNTFDL
2010 2020 2030 2040 2050
MGKRRKQKRI NFLGLEEEGN LKKFQPDLKE RFCMNFLHTS LLVVGNVDSN
2060 2070 2080 2090 2100
TQDLSGQTNE IFKAVDENNN LLNNRFQGSR TNLNQVVREN INCHYFFEML
2110 2120 2130 2140 2150
GQACLLDICQ VETSLNISNR NILELCMFEG ENLFIWEEED ILNLTDLESS

REQEDL
Length:2,156
Mass (Da):240,661
Last modified:May 30, 2000 - v1
Checksum:i55AEDBEC43D6A507
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTV9A0A1B0GTV9_HUMAN
Oxygen-regulated protein 1
RP1
1,106Annotation score:
A0A1B0GUH0A0A1B0GUH0_HUMAN
Oxygen-regulated protein 1
RP1
1,416Annotation score:

Polymorphismi

Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIMi:145750] in the homozygous state.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066948168R → G1 Publication1
Natural variantiVAR_068351172L → R in RP1. 1 PublicationCorresponds to variant dbSNP:rs180729424EnsemblClinVar.1
Natural variantiVAR_064182202D → E in RP1. 1 Publication1
Natural variantiVAR_066949218A → T1 PublicationCorresponds to variant dbSNP:rs145691085Ensembl.1
Natural variantiVAR_051323251Y → C. Corresponds to variant dbSNP:rs16920614Ensembl.1
Natural variantiVAR_064183373T → I in RP1; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs77775126EnsemblClinVar.1
Natural variantiVAR_066950376R → L1 Publication1
Natural variantiVAR_064466408I → L1 Publication1
Natural variantiVAR_064467663K → N in RP1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs372551375Ensembl.1
Natural variantiVAR_064468669A → T in RP1. 1 PublicationCorresponds to variant dbSNP:rs201725231Ensembl.1
Natural variantiVAR_064469706G → R1 PublicationCorresponds to variant dbSNP:rs199879316Ensembl.1
Natural variantiVAR_064470727C → W1 Publication1
Natural variantiVAR_051324752T → M. Corresponds to variant dbSNP:rs28399531EnsemblClinVar.1
Natural variantiVAR_007810872R → H5 PublicationsCorresponds to variant dbSNP:rs444772EnsemblClinVar.1
Natural variantiVAR_066951900K → N in RP1. 1 Publication1
Natural variantiVAR_051325945V → L. Corresponds to variant dbSNP:rs16920621EnsemblClinVar.1
Natural variantiVAR_064471984D → G in RP1. 1 PublicationCorresponds to variant dbSNP:rs200135800Ensembl.1
Natural variantiVAR_007811985N → Y Associated with susceptibility to hypertriglyceridemia. 4 PublicationsCorresponds to variant dbSNP:rs2293869EnsemblClinVar.1
Natural variantiVAR_0669521072D → G1 PublicationCorresponds to variant dbSNP:rs756775228Ensembl.1
Natural variantiVAR_0669531356L → S1 Publication1
Natural variantiVAR_0644721370K → E in RP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs186594858Ensembl.1
Natural variantiVAR_0669541417L → P1 PublicationCorresponds to variant dbSNP:rs139294220Ensembl.1
Natural variantiVAR_0669551425L → P1 Publication1
Natural variantiVAR_0513261595R → Q2 PublicationsCorresponds to variant dbSNP:rs35084330EnsemblClinVar.1
Natural variantiVAR_0644731652R → L in RP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760740229Ensembl.1
Natural variantiVAR_0078121670A → T4 PublicationsCorresponds to variant dbSNP:rs446227EnsemblClinVar.1
Natural variantiVAR_0078131691S → P4 PublicationsCorresponds to variant dbSNP:rs414352EnsemblClinVar.1
Natural variantiVAR_0669561793P → S2 PublicationsCorresponds to variant dbSNP:rs143088423Ensembl.1
Natural variantiVAR_0644741808L → P in RP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371969576Ensembl.1
Natural variantiVAR_0669571935F → L1 PublicationCorresponds to variant dbSNP:rs140137224Ensembl.1
Natural variantiVAR_0078142033C → Y3 PublicationsCorresponds to variant dbSNP:rs61739567EnsemblClinVar.1
Natural variantiVAR_0669582066D → N1 PublicationCorresponds to variant dbSNP:rs149282954EnsemblClinVar.1
Natural variantiVAR_0669592113T → N in RP1. 1 PublicationCorresponds to variant dbSNP:rs137887415Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
XP_016869211.1, XM_017013722.1
UniGeneiHs.732820

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

RetNet

Retinal information network

Mutations of the RP1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
XP_016869211.1, XM_017013722.1
UniGeneiHs.732820

3D structure databases

ProteinModelPortaliP56715
SMRiP56715
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000220676

PTM databases

iPTMnetiP56715
PhosphoSitePlusiP56715

Polymorphism and mutation databases

BioMutaiRP1
DMDMi6225804

Proteomic databases

EPDiP56715
MaxQBiP56715
PaxDbiP56715
PeptideAtlasiP56715
PRIDEiP56715
ProteomicsDBi56940

Protocols and materials databases

DNASUi6101
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6101
DisGeNETi6101
EuPathDBiHostDB:ENSG00000104237.6
GeneCardsiRP1
GeneReviewsiRP1
HGNCiHGNC:10263 RP1
HPAiHPA042257
MalaCardsiRP1
MIMi145750 phenotype
180100 phenotype
603937 gene
neXtProtiNX_P56715
OpenTargetsiENSG00000104237
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA34635
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1181 Eukaryota
KOG3757 Eukaryota
ENOG410ZE6Q LUCA
GeneTreeiENSGT00920000149015
HOGENOMiHOG000136857
HOVERGENiHBG018173
InParanoidiP56715
KOiK19538
OrthoDBiEOG091G00UF
PhylomeDBiP56715
TreeFamiTF318770

Miscellaneous databases

ChiTaRSiRP1 human
GeneWikiiRP1
GenomeRNAii6101
PROiPR:P56715
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104237 Expressed in 18 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_RP1
ExpressionAtlasiP56715 baseline and differential
GenevisibleiP56715 HS

Family and domain databases

CDDicd01617 DCX, 2 hits
Gene3Di3.10.20.230, 2 hits
InterProiView protein in InterPro
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
IPR033013 Rp1
PANTHERiPTHR23005:SF4 PTHR23005:SF4, 1 hit
PfamiView protein in Pfam
PF03607 DCX, 2 hits
SMARTiView protein in SMART
SM00537 DCX, 2 hits
SUPFAMiSSF89837 SSF89837, 2 hits
PROSITEiView protein in PROSITE
PS50309 DC, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiRP1_HUMAN
AccessioniPrimary (citable) accession number: P56715
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: September 12, 2018
This is version 151 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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