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Entry version 201 (10 Apr 2019)
Sequence version 2 (19 Sep 2002)
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Protein

X-linked retinitis pigmentosa GTPase regulator

Gene

RPGR

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

Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.By similarity1 Publication

<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

Molecular functionGuanine-nucleotide releasing factor
Biological processCilium biogenesis/degradation, Sensory transduction, Vision

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
Q92834

<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:
X-linked retinitis pigmentosa GTPase regulator
<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:RPGR
Synonyms:RP3, XLRP3
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000156313.12

Human Gene Nomenclature Database

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HGNCi
HGNC:10295 RPGR

Online Mendelian Inheritance in Man (OMIM)

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MIMi
312610 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q92834

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum, Golgi apparatus

<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 3 (RP3)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked 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. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
See also OMIM:300029
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_01805743G → E in RP3. 1 PublicationCorresponds to variant dbSNP:rs62638630EnsemblClinVar.1
Natural variantiVAR_01805843G → R in RP3. 1 PublicationCorresponds to variant dbSNP:rs62638629EnsemblClinVar.1
Natural variantiVAR_00850160G → V in RP3. 3 PublicationsCorresponds to variant dbSNP:rs62638634EnsemblClinVar.1
Natural variantiVAR_00850375I → V in RP3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111631988EnsemblClinVar.1
Natural variantiVAR_00850498H → Q in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant dbSNP:rs62638636EnsemblClinVar.1
Natural variantiVAR_01362599T → N in RP3. 1 PublicationCorresponds to variant dbSNP:rs62638637EnsemblClinVar.1
Natural variantiVAR_018059127R → G in RP3. 2 PublicationsCorresponds to variant dbSNP:rs62638643EnsemblClinVar.1
Natural variantiVAR_006850130F → C in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant dbSNP:rs62638644EnsemblClinVar.1
Natural variantiVAR_025949152S → L in RP3. 1 Publication1
Natural variantiVAR_018060173G → R in RP3 and RPDSI. 2 PublicationsCorresponds to variant dbSNP:rs137852550EnsemblClinVar.1
Natural variantiVAR_008505215G → V in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant dbSNP:rs62650218EnsemblClinVar.1
Natural variantiVAR_006851235P → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant dbSNP:rs62638651EnsemblClinVar.1
Natural variantiVAR_008506250C → R in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant dbSNP:rs62650220EnsemblClinVar.1
Natural variantiVAR_018061250C → Y in RP3. 1 Publication1
Natural variantiVAR_018062258Missing in RP3. 1 Publication1
Natural variantiVAR_008507262A → G in RP3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138018739EnsemblClinVar.1
Natural variantiVAR_018063267G → E in RP3. 1
Natural variantiVAR_026127267G → R in RP3. 1 Publication1
Natural variantiVAR_006852275G → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant dbSNP:rs62642057EnsemblClinVar.1
Natural variantiVAR_026128285E → G in RP3. 1 Publication1
Natural variantiVAR_013626289I → V in RP3. 1 PublicationCorresponds to variant dbSNP:rs62640587EnsemblClinVar.1
Natural variantiVAR_013627296 – 300Missing in RP3. 1 Publication5
Natural variantiVAR_011561302C → R in RP3. 1 PublicationCorresponds to variant dbSNP:rs62640589EnsemblClinVar.1
Natural variantiVAR_018064302C → Y in RP3. 1 PublicationCorresponds to variant dbSNP:rs62640590EnsemblClinVar.1
Natural variantiVAR_018065312D → N in RP3. 1 Publication1
Natural variantiVAR_018066312D → Y in RP3. 1 Publication1
Natural variantiVAR_018067320G → R in RP3; impairs protein folding. 2 PublicationsCorresponds to variant dbSNP:rs62640593EnsemblClinVar.1
Natural variantiVAR_008510436G → D in RP3. 3 PublicationsCorresponds to variant dbSNP:rs62635004EnsemblClinVar.1
Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by the association primary ciliary dyskinesia features with retinitis pigmentosa. Some patients also manifest deafness.
See also OMIM:300455
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018060173G → R in RP3 and RPDSI. 2 PublicationsCorresponds to variant dbSNP:rs137852550EnsemblClinVar.1
Cone-rod dystrophy, X-linked 1 (CORDX1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms.
See also OMIM:304020
Macular degeneration, X-linked, atrophic (MDXLA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.
See also OMIM:300834

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi36V → F: Does not reduce interaction with PDE6D. 1 Publication1
Mutagenesisi323R → E: Abolishes interaction with RPGRIP1. 1 Publication1

Keywords - Diseasei

Ciliopathy, Cone-rod dystrophy, Deafness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

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DisGeNETi
6103

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

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GeneReviewsi
RPGR

MalaCards human disease database

More...
MalaCardsi
RPGR
MIMi300029 phenotype
300455 phenotype
300834 phenotype
304020 phenotype

Open Targets

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OpenTargetsi
ENSG00000156313

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

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Orphaneti
49382 Achromatopsia
1872 Cone rod dystrophy
244 Primary ciliary dyskinesia
247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34656

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RPGR

Domain mapping of disease mutations (DMDM)

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DMDMi
23503098

<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_00002066381 – 1017X-linked retinitis pigmentosa GTPase regulatorAdd BLAST1017
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_00003708441018 – 1020Removed in mature formSequence analysis3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei418PhosphoserineCombined sources1
Modified residuei518PhosphoserineCombined sources1
Modified residuei1017Cysteine methyl esterSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi1017S-geranylgeranyl cysteineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Prenylated.By similarity

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92834

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92834

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92834

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

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PaxDbi
Q92834

PeptideAtlas

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PeptideAtlasi
Q92834

PRoteomics IDEntifications database

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PRIDEi
Q92834

ProteomicsDB human proteome resource

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ProteomicsDBi
75513
75514 [Q92834-2]
75515 [Q92834-3]
75516 [Q92834-4]
75517 [Q92834-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q92834

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

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PhosphoSitePlusi
Q92834

<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

Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000156313 Expressed in 219 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92834 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92834 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA001593
HPA073455

<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 with SPATA7 (By similarity). Interacts with CEP290 (By similarity). Interacts with WHRN (By similarity). Interacts with PDE6D (PubMed:9990021, PubMed:23559067, PubMed:24981858). Interacts with RPGRIP1 (PubMed:10958648, PubMed:24981858). Interacts with RPGRIP1L (PubMed:19430481, PubMed:24981858). PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (PubMed:24981858). Isoform 6 interacts with NPM1 (via C-terminus) (PubMed:15772089). Isoform 6 interacts with SMC1A and SMC3 (PubMed:16043481).By similarity7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112030, 40 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q92834

Protein interaction database and analysis system

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IntActi
Q92834, 30 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000367766

<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

Secondary structure

11020
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4JHNX-ray1.70A/B/C/D1-392[»]
4JHPX-ray1.90C7-368[»]
4QAMX-ray1.83A1-392[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q92834

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

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SMRi
Q92834

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati54 – 105RCC1 1Add BLAST52
Repeati106 – 158RCC1 2Add BLAST53
Repeati159 – 208RCC1 3Add BLAST50
Repeati209 – 261RCC1 4Add BLAST53
Repeati262 – 313RCC1 5Add BLAST52
Repeati314 – 367RCC1 6Add BLAST54

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 biasi530 – 903Glu-richAdd BLAST374

<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 RCC1 repeat region mediates interactions with RPGRIP1.1 Publication

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1426 Eukaryota
COG5184 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159616

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231314

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG026899

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92834

KEGG Orthology (KO)

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KOi
K19607

Identification of Orthologs from Complete Genome Data

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OMAi
WNNVLPH

Database of Orthologous Groups

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OrthoDBi
1062377at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92834

TreeFam database of animal gene trees

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TreeFami
TF331400

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens

Pfam protein domain database

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Pfami
View protein in Pfam
PF00415 RCC1, 6 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00633 RCCNDNSATION

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50985 SSF50985, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00626 RCC1_2, 4 hits
PS50012 RCC1_3, 6 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>Sequences (6+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92834-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MREPEELMPD SGAVFTFGKS KFAENNPGKF WFKNDVPVHL SCGDEHSAVV
60 70 80 90 100
TGNNKLYMFG SNNWGQLGLG SKSAISKPTC VKALKPEKVK LAACGRNHTL
110 120 130 140 150
VSTEGGNVYA TGGNNEGQLG LGDTEERNTF HVISFFTSEH KIKQLSAGSN
160 170 180 190 200
TSAALTEDGR LFMWGDNSEG QIGLKNVSNV CVPQQVTIGK PVSWISCGYY
210 220 230 240 250
HSAFVTTDGE LYVFGEPENG KLGLPNQLLG NHRTPQLVSE IPEKVIQVAC
260 270 280 290 300
GGEHTVVLTE NAVYTFGLGQ FGQLGLGTFL FETSEPKVIE NIRDQTISYI
310 320 330 340 350
SCGENHTALI TDIGLMYTFG DGRHGKLGLG LENFTNHFIP TLCSNFLRFI
360 370 380 390 400
VKLVACGGCH MVVFAAPHRG VAKEIEFDEI NDTCLSVATF LPYSSLTSGN
410 420 430 440 450
VLQRTLSARM RRRERERSPD SFSMRRTLPP IEGTLGLSAC FLPNSVFPRC
460 470 480 490 500
SERNLQESVL SEQDLMQPEE PDYLLDEMTK EAEIDNSSTV ESLGETTDIL
510 520 530 540 550
NMTHIMSLNS NEKSLKLSPV QKQKKQQTIG ELTQDTALTE NDDSDEYEEM
560 570 580 590 600
SEMKEGKACK QHVSQGIFMT QPATTIEAFS DEEVGNDTGQ VGPQADTDGE
610 620 630 640 650
GLQKEVYRHE NNNGVDQLDA KEIEKESDGG HSQKESEAEE IDSEKETKLA
660 670 680 690 700
EIAGMKDLRE REKSTKKMSP FFGNLPDRGM NTESEENKDF VKKRESCKQD
710 720 730 740 750
VIFDSERESV EKPDSYMEGA SESQQGIADG FQQPEAIEFS SGEKEDDEVE
760 770 780 790 800
TDQNIRYGRK LIEQGNEKET KPIISKSMAK YDFKCDRLSE IPEEKEGAED
810 820 830 840 850
SKGNGIEEQE VEANEENVKV HGGRKEKTEI LSDDLTDKAE DHEFSKTEEL
860 870 880 890 900
KLEDVDEEIN AENVESKKKT VGDDESVPTG YHSKTEGAER TNDDSSAETI
910 920 930 940 950
EKKEKANLEE RAICEYNENP KGYMLDDADS SSLEILENSE TTPSKDMKKT
960 970 980 990 1000
KKIFLFKRVP SINQKIVKNN NEPLPEIKSI GDQIILKSDN KDADQNHMSQ
1010 1020
NHQNIPPTNT ERRSKSCTIL
Length:1,020
Mass (Da):113,387
Last modified:September 19, 2002 - v2
<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:iEAB16275A9A436C3
GO
Isoform 2 (identifier: Q92834-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     585-789: Missing.

Show »
Length:815
Mass (Da):90,245
Checksum:i70D84EAD988348D1
GO
Isoform 3 (identifier: Q92834-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     585-789: Missing.
     841-851: DHEFSKTEELK → YSASHSQIVSV
     852-1020: Missing.

Show »
Length:646
Mass (Da):70,981
Checksum:iBE8E98184F0404A6
GO
Isoform 4 (identifier: Q92834-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     354-415: Missing.
     585-789: Missing.

Show »
Length:753
Mass (Da):83,394
Checksum:iA84202BD00B84930
GO
Isoform 5 (identifier: Q92834-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     473-480: YLLDEMTK → THHEPEFQ
     481-1020: Missing.

Note: No experimental confirmation available.
Show »
Length:480
Mass (Da):52,628
Checksum:i6766EA259A232631
GO
Isoform 6 (identifier: Q92834-6) [UniParc]FASTAAdd to basket
Also known as: ORF15

The sequence of this isoform differs from the canonical sequence as follows:
     585-1020: GNDTGQVGPQ...ERRSKSCTIL → EIPEEKEGAE...NVLPHYLELK

Show »
Length:1,152
Mass (Da):127,042
Checksum:i9A07A64016D8C01A
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4L1H7C4L1_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
129Annotation 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>
H7C4H4H7C4H4_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
415Annotation 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>
A0A2R8Y4C9A0A2R8Y4C9_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
325Annotation 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>
A0A2R8YGY6A0A2R8YGY6_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
379Annotation 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>
A0A2R8Y414A0A2R8Y414_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
673Annotation 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>
A0A2R8YF02A0A2R8YF02_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
167Annotation 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>
A0A2R8YFT6A0A2R8YFT6_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
642Annotation 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>
A0A2R8Y838A0A2R8Y838_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
540Annotation 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>
A0A2R8YDN2A0A2R8YDN2_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGR
508Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1 – 3MRE → MAKLRRSTTTAL in CAB54002 (PubMed:10401007).Curated3
Sequence conflicti190K → N in CAC86116 (PubMed:10401007).Curated1
Isoform 6 (identifier: Q92834-6)
Sequence conflicti1144V → I in DAA05713 (PubMed:15772089).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01805743G → E in RP3. 1 PublicationCorresponds to variant dbSNP:rs62638630EnsemblClinVar.1
Natural variantiVAR_01805843G → R in RP3. 1 PublicationCorresponds to variant dbSNP:rs62638629EnsemblClinVar.1
Natural variantiVAR_00850160G → V in RP3. 3 PublicationsCorresponds to variant dbSNP:rs62638634EnsemblClinVar.1
Natural variantiVAR_00850375I → V in RP3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111631988EnsemblClinVar.1
Natural variantiVAR_01362476S → I1 PublicationCorresponds to variant dbSNP:rs1801685Ensembl.1
Natural variantiVAR_00850498H → Q in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant dbSNP:rs62638636EnsemblClinVar.1
Natural variantiVAR_01362599T → N in RP3. 1 PublicationCorresponds to variant dbSNP:rs62638637EnsemblClinVar.1
Natural variantiVAR_018059127R → G in RP3. 2 PublicationsCorresponds to variant dbSNP:rs62638643EnsemblClinVar.1
Natural variantiVAR_006850130F → C in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant dbSNP:rs62638644EnsemblClinVar.1
Natural variantiVAR_025949152S → L in RP3. 1 Publication1
Natural variantiVAR_018060173G → R in RP3 and RPDSI. 2 PublicationsCorresponds to variant dbSNP:rs137852550EnsemblClinVar.1
Natural variantiVAR_033259184Q → H. Corresponds to variant dbSNP:rs5963403EnsemblClinVar.1
Natural variantiVAR_008505215G → V in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant dbSNP:rs62650218EnsemblClinVar.1
Natural variantiVAR_006851235P → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant dbSNP:rs62638651EnsemblClinVar.1
Natural variantiVAR_008506250C → R in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant dbSNP:rs62650220EnsemblClinVar.1
Natural variantiVAR_018061250C → Y in RP3. 1 Publication1
Natural variantiVAR_018062258Missing in RP3. 1 Publication1
Natural variantiVAR_008507262A → G in RP3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138018739EnsemblClinVar.1
Natural variantiVAR_018063267G → E in RP3. 1
Natural variantiVAR_026127267G → R in RP3. 1 Publication1
Natural variantiVAR_006852275G → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant dbSNP:rs62642057EnsemblClinVar.1
Natural variantiVAR_026128285E → G in RP3. 1 Publication1
Natural variantiVAR_013626289I → V in RP3. 1 PublicationCorresponds to variant dbSNP:rs62640587EnsemblClinVar.1
Natural variantiVAR_013627296 – 300Missing in RP3. 1 Publication5
Natural variantiVAR_011561302C → R in RP3. 1 PublicationCorresponds to variant dbSNP:rs62640589EnsemblClinVar.1
Natural variantiVAR_018064302C → Y in RP3. 1 PublicationCorresponds to variant dbSNP:rs62640590EnsemblClinVar.1
Natural variantiVAR_018065312D → N in RP3. 1 Publication1
Natural variantiVAR_018066312D → Y in RP3. 1 Publication1
Natural variantiVAR_018067320G → R in RP3; impairs protein folding. 2 PublicationsCorresponds to variant dbSNP:rs62640593EnsemblClinVar.1
Natural variantiVAR_018068345N → D Rare polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs41305223EnsemblClinVar.1
Natural variantiVAR_008508425R → K4 PublicationsCorresponds to variant dbSNP:rs1801687EnsemblClinVar.1
Natural variantiVAR_008509431I → V2 PublicationsCorresponds to variant dbSNP:rs62635003EnsemblClinVar.1
Natural variantiVAR_008510436G → D in RP3. 3 PublicationsCorresponds to variant dbSNP:rs62635004EnsemblClinVar.1
Natural variantiVAR_011562526Missing 1 Publication1
Natural variantiVAR_011563533T → M1 PublicationCorresponds to variant dbSNP:rs41312104EnsemblClinVar.1
Natural variantiVAR_008511566G → E4 PublicationsCorresponds to variant dbSNP:rs1801688EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005547354 – 415Missing in isoform 4. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_009183473 – 480YLLDEMTK → THHEPEFQ in isoform 5. 1 Publication8
Alternative sequenceiVSP_009184481 – 1020Missing in isoform 5. 1 PublicationAdd BLAST540
Alternative sequenceiVSP_044559585 – 1020GNDTG…SCTIL → EIPEEKEGAEDSKGNGIEEQ EVEANEENVKVHGGRKEKTE ILSDDLTDKAEVSEGKAKSV GEAEDGPEGRGDGTCEEGSS GAEHWQDEEREKGEKDKGRG EMERPGEGEKELAEKEEWKK RDGEEQEQKEREQGHQKERN QEMEEGGEEEHGEGEEEEGD REEEEEKEGEGKEEGEGEEV EGEREKEEGERKKEERAGKE EKGEEEGDQGEGEEEETEGR GEEKEEGGEVEGGEVEEGKG EREEEEEEGEGEEEEGEGEE EEGEGEEEEGEGKGEEEGEE GEGEEEGEEGEGEGEEEEGE GEGEEEGEGEGEEEEGEGEG EEEGEGEGEEEEGEGKGEEE GEEGEGEGEEEEGEGEGEDG EGEGEEEEGEWEGEEEEGEG EGEEEGEGEGEEGEGEGEEE EGEGEGEEEEGEEEGEEEGE GEEEGEGEGEEEEEGEVEGE VEGEEGEGEGEEEEGEEEGE EREKEGEGEENRRNREEEEE EEGKYQETGEEENERQDGEE YKKVSKIKGSVKYGKHKTYQ KKSVTNTQGNGKEQRSKMPV QSKRLLKNGPSGSKKFWNNV LPHYLELK in isoform 6. CuratedAdd BLAST436
Alternative sequenceiVSP_005548585 – 789Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST205
Alternative sequenceiVSP_005549841 – 851DHEFSKTEELK → YSASHSQIVSV in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_005550852 – 1020Missing in isoform 3. 1 PublicationAdd BLAST169

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U57629 mRNA Translation: AAC50481.1
X97668 mRNA Translation: CAA66258.1
AJ238395 mRNA Translation: CAB54002.1
AJ318463 Genomic DNA Translation: CAC86116.1
AL606748 Genomic DNA No translation available.
CH471141 Genomic DNA Translation: EAW59441.1
BC031624 mRNA Translation: AAH31624.1
AF286471 Genomic DNA Translation: AAG00550.1
BK005711 mRNA Translation: DAA05713.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14246.1 [Q92834-2]
CCDS35229.1 [Q92834-6]

NCBI Reference Sequences

More...
RefSeqi
NP_000319.1, NM_000328.2 [Q92834-2]
NP_001030025.1, NM_001034853.1 [Q92834-6]
XP_016885199.1, XM_017029710.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.61438

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000318842; ENSP00000322219; ENSG00000156313 [Q92834-2]
ENST00000339363; ENSP00000343671; ENSG00000156313 [Q92834-1]
ENST00000378505; ENSP00000367766; ENSG00000156313 [Q92834-6]
ENST00000474584; ENSP00000418926; ENSG00000156313 [Q92834-5]
ENST00000482855; ENSP00000419276; ENSG00000156313 [Q92834-3]
ENST00000642395; ENSP00000493468; ENSG00000156313 [Q92834-2]
ENST00000644337; ENSP00000494557; ENSG00000156313 [Q92834-4]
ENST00000645032; ENSP00000495537; ENSG00000156313 [Q92834-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6103

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6103

UCSC genome browser

More...
UCSCi
uc004deb.4 human [Q92834-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

Mutations of the RPGR gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57629 mRNA Translation: AAC50481.1
X97668 mRNA Translation: CAA66258.1
AJ238395 mRNA Translation: CAB54002.1
AJ318463 Genomic DNA Translation: CAC86116.1
AL606748 Genomic DNA No translation available.
CH471141 Genomic DNA Translation: EAW59441.1
BC031624 mRNA Translation: AAH31624.1
AF286471 Genomic DNA Translation: AAG00550.1
BK005711 mRNA Translation: DAA05713.1
CCDSiCCDS14246.1 [Q92834-2]
CCDS35229.1 [Q92834-6]
RefSeqiNP_000319.1, NM_000328.2 [Q92834-2]
NP_001030025.1, NM_001034853.1 [Q92834-6]
XP_016885199.1, XM_017029710.1
UniGeneiHs.61438

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4JHNX-ray1.70A/B/C/D1-392[»]
4JHPX-ray1.90C7-368[»]
4QAMX-ray1.83A1-392[»]
ProteinModelPortaliQ92834
SMRiQ92834
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112030, 40 interactors
CORUMiQ92834
IntActiQ92834, 30 interactors
STRINGi9606.ENSP00000367766

PTM databases

iPTMnetiQ92834
PhosphoSitePlusiQ92834

Polymorphism and mutation databases

BioMutaiRPGR
DMDMi23503098

Proteomic databases

EPDiQ92834
jPOSTiQ92834
MaxQBiQ92834
PaxDbiQ92834
PeptideAtlasiQ92834
PRIDEiQ92834
ProteomicsDBi75513
75514 [Q92834-2]
75515 [Q92834-3]
75516 [Q92834-4]
75517 [Q92834-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6103
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318842; ENSP00000322219; ENSG00000156313 [Q92834-2]
ENST00000339363; ENSP00000343671; ENSG00000156313 [Q92834-1]
ENST00000378505; ENSP00000367766; ENSG00000156313 [Q92834-6]
ENST00000474584; ENSP00000418926; ENSG00000156313 [Q92834-5]
ENST00000482855; ENSP00000419276; ENSG00000156313 [Q92834-3]
ENST00000642395; ENSP00000493468; ENSG00000156313 [Q92834-2]
ENST00000644337; ENSP00000494557; ENSG00000156313 [Q92834-4]
ENST00000645032; ENSP00000495537; ENSG00000156313 [Q92834-6]
GeneIDi6103
KEGGihsa:6103
UCSCiuc004deb.4 human [Q92834-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6103
DisGeNETi6103
EuPathDBiHostDB:ENSG00000156313.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RPGR
GeneReviewsiRPGR
HGNCiHGNC:10295 RPGR
HPAiHPA001593
HPA073455
MalaCardsiRPGR
MIMi300029 phenotype
300455 phenotype
300834 phenotype
304020 phenotype
312610 gene
neXtProtiNX_Q92834
OpenTargetsiENSG00000156313
Orphaneti49382 Achromatopsia
1872 Cone rod dystrophy
244 Primary ciliary dyskinesia
247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome
791 Retinitis pigmentosa
PharmGKBiPA34656

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1426 Eukaryota
COG5184 LUCA
GeneTreeiENSGT00940000159616
HOGENOMiHOG000231314
HOVERGENiHBG026899
InParanoidiQ92834
KOiK19607
OMAiWNNVLPH
OrthoDBi1062377at2759
PhylomeDBiQ92834
TreeFamiTF331400

Enzyme and pathway databases

SIGNORiQ92834

Miscellaneous databases

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

More...
ChiTaRSi
RPGR human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Retinitis_pigmentosa_GTPase_regulator

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

More...
GenomeRNAii
6103

Protein Ontology

More...
PROi
PR:Q92834

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000156313 Expressed in 219 organ(s), highest expression level in adenohypophysis
ExpressionAtlasiQ92834 baseline and differential
GenevisibleiQ92834 HS

Family and domain databases

Gene3Di2.130.10.30, 1 hit
InterProiView protein in InterPro
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
PfamiView protein in Pfam
PF00415 RCC1, 6 hits
PRINTSiPR00633 RCCNDNSATION
SUPFAMiSSF50985 SSF50985, 1 hit
PROSITEiView protein in PROSITE
PS00626 RCC1_2, 4 hits
PS50012 RCC1_3, 6 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 nameiRPGR_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: Q92834
Secondary accession number(s): B1ARN3
, E9PE28, O00702, O00737, Q3KN84, Q8N5T6, Q93039, Q9HD29, Q9UMR1
<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: November 1, 1997
Last sequence update: September 19, 2002
Last modified: April 10, 2019
This is version 201 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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