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Protein

Oxygen-regulated protein 1

Gene

RP1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation, Sensory transduction, Vision

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Oxygen-regulated protein 1
Alternative name(s):
Retinitis pigmentosa 1 protein
Retinitis pigmentosa RP1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RP1
Synonyms:ORP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000104237.6

Human Gene Nomenclature Database

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HGNCi
HGNC:10263 RP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603937 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P56715

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
6101

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
RP1

MalaCards human disease database

More...
MalaCardsi
RP1
MIMi145750 phenotype
180100 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104237

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34635

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6225804

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000974101 – 2156Oxygen-regulated protein 1Add BLAST2156

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P56715

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P56715

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P56715

PeptideAtlas

More...
PeptideAtlasi
P56715

PRoteomics IDEntifications database

More...
PRIDEi
P56715

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56940

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P56715

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P56715

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000104237 Expressed in 18 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

More...
CleanExi
HS_RP1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P56715 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P56715 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042257

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000220676

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P56715

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P56715

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini36 – 118Doublecortin 1PROSITE-ProRule annotationAdd BLAST83
Domaini154 – 233Doublecortin 2PROSITE-ProRule annotationAdd BLAST80

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi268 – 273Poly-Ser6
Compositional biasi671 – 675Poly-Lys5
Compositional biasi1687 – 1691Poly-Ser5

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1181 Eukaryota
KOG3757 Eukaryota
ENOG410ZE6Q LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154242

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000136857

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG018173

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P56715

KEGG Orthology (KO)

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KOi
K19538

Database of Orthologous Groups

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OrthoDBi
EOG091G00UF

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P56715

TreeFam database of animal gene trees

More...
TreeFami
TF318770

Family and domain databases

Conserved Domains Database

More...
CDDi
cd01617 DCX, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.10.20.230, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003533 Doublecortin_dom
IPR036572 Doublecortin_dom_sf
IPR033013 Rp1
IPR040163 RP1/RP1L1

The PANTHER Classification System

More...
PANTHERi
PTHR23005 PTHR23005, 1 hit
PTHR23005:SF4 PTHR23005:SF4, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03607 DCX, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00537 DCX, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF89837 SSF89837, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50309 DC, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i55AEDBEC43D6A507
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUH0A0A1B0GUH0_HUMAN
Oxygen-regulated protein 1
RP1
1,416Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS6160.1

NCBI Reference Sequences

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RefSeqi
NP_006260.1, NM_006269.1
XP_016869211.1, XM_017013722.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.732820

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000220676; ENSP00000220676; ENSG00000104237

Database of genes from NCBI RefSeq genomes

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GeneIDi
6101

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6101

UCSC genome browser

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UCSCi
uc003xsd.1 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

The DNASU plasmid repository

More...
DNASUi
6101
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6101
DisGeNETi6101
EuPathDBiHostDB:ENSG00000104237.6

GeneCards: human genes, protein and diseases

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GeneCardsi
RP1
GeneReviewsiRP1
HGNCiHGNC:10263 RP1
HPAiHPA042257
MalaCardsiRP1
MIMi145750 phenotype
180100 phenotype
603937 gene
neXtProtiNX_P56715
OpenTargetsiENSG00000104237
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA34635

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1181 Eukaryota
KOG3757 Eukaryota
ENOG410ZE6Q LUCA
GeneTreeiENSGT00940000154242
HOGENOMiHOG000136857
HOVERGENiHBG018173
InParanoidiP56715
KOiK19538
OrthoDBiEOG091G00UF
PhylomeDBiP56715
TreeFamiTF318770

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RP1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6101

Protein Ontology

More...
PROi
PR:P56715

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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
IPR040163 RP1/RP1L1
PANTHERiPTHR23005 PTHR23005, 1 hit
PTHR23005: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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P56715
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: December 5, 2018
This is version 152 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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