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Protein

Protein XRP2

Gene

RP2

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

Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins.4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi98 – 99GTP2
Nucleotide bindingi115 – 118GTP4

<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

  • GTPase activator activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW
  • magnesium ion binding Source: UniProtKB
  • unfolded protein binding Source: ProtInc

GO - Biological processi

  • cell morphogenesis Source: InterPro
  • post-Golgi vesicle-mediated transport Source: MGI
  • protein folding Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • visual perception Source: ProtInc

<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 functionGTPase activation
Biological processProtein transport, Transport
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5624138 Trafficking of myristoylated proteins to the cilium

<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:
Protein XRP2
<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:RP2
<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:ENSG00000102218.5

Human Gene Nomenclature Database

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HGNCi
HGNC:10274 RP2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300757 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75695

<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 membrane, Cell projection, Cilium, Membrane

<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 2 (RP2)13 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:312600
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_0084976Missing in RP2; loss of membrane association; enhances interaction with ARL3. 4 Publications1
Natural variantiVAR_01806967C → Y in RP2. 1 Publication1
Natural variantiVAR_01807086C → Y in RP2. 2 Publications1
Natural variantiVAR_01807195P → L in RP2; uncertain pathological significance. 2 Publications1
Natural variantiVAR_008498108C → G in RP2. 1
Natural variantiVAR_068353108C → Y in RP2. 1 Publication1
Natural variantiVAR_026058118R → C in RP2. 1 Publication1
Natural variantiVAR_008499118R → H in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location. 10 PublicationsCorresponds to variant dbSNP:rs28933687EnsemblClinVar.1
Natural variantiVAR_018072118R → L in RP2. 2 PublicationsCorresponds to variant dbSNP:rs28933687EnsemblClinVar.1
Natural variantiVAR_018073137Missing in RP2. 3 Publications1
Natural variantiVAR_018074138E → G in RP2; reduces affinity for ARL3 150-fold and inhibits the GTP-hydrolysis rate of ARL3. 3 Publications1
Natural variantiVAR_018075188L → P in RP2. 1 Publication1
Natural variantiVAR_008500253L → R in RP2. 1 Publication1

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>Mutagenesisi2G → A: Loss of membrane association. 1 Publication1
Mutagenesisi3C → S: Targeting to internal membranes. Loss of targeting to the plasma membrane. 1 Publication1
Mutagenesisi28S → A: Reduces affinity for mouse ARL3; when associated with A-29. 1 Publication1
Mutagenesisi29W → A: Reduces affinity for mouse ARL3; when associated with A-28. 1 Publication1
Mutagenesisi31Q → A: Does not reduce affinity for mouse ARL3; when associated with A-32. 1 Publication1
Mutagenesisi32R → A: Does not reduce affinity for mouse ARL3; when associated with A-31. 1 Publication1
Mutagenesisi101F → A: Reduces affinity for mouse ARL3. 1 Publication1
Mutagenesisi115Q → A: Reduces affinity for mouse ARL3. 1 Publication1
Mutagenesisi116Q → A: Reduces affinity and GTP-hydrolysis rate for mouse ARL3. 1 Publication1
Mutagenesisi118R → A: Reduces affinity and GTP-hydrolysis rate for mouse ARL3. 1 Publication1
Mutagenesisi120R → H: Reduces affinity for mouse ARL3; when associated with S-121. 1 Publication1
Mutagenesisi121D → S: Reduces affinity for mouse ARL3; when associated with H-120. 1
Mutagenesisi177F → A: Reduces affinity and GTP-hydrolysis rate for mouse ARL3. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
6102

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

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GeneReviewsi
RP2

MalaCards human disease database

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MalaCardsi
RP2
MIMi312600 phenotype

Open Targets

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OpenTargetsi
ENSG00000102218

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
PA34641

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RP2

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00000800472 – 350Protein XRP2Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Lipidationi2N-myristoyl glycine1 Publication1
Lipidationi3S-palmitoyl cysteine1 Publication1 Publication1

<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

Myristoylated on Gly-2; which may be required for membrane targeting.1 Publication
Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets the protein to internal membranes.Curated1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Palmitate

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O75695

MaxQB - The MaxQuant DataBase

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MaxQBi
O75695

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

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PaxDbi
O75695

PeptideAtlas

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PeptideAtlasi
O75695

PRoteomics IDEntifications database

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PRIDEi
O75695

ProteomicsDB human proteome resource

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ProteomicsDBi
50167

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75695

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

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PhosphoSitePlusi
O75695

SwissPalm database of S-palmitoylation events

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SwissPalmi
O75695

<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

Ubiquitous. Expressed in the rod and cone photoreceptors, extending from the tips of the outer segment (OS) through the inner segment (IS) and outer nuclear layer (ONL) and into the synaptic terminals of the outer plexiform layer (ONL). Also detected in the bipolar, horizontal and amacrine cells in the inner nuclear layer (INL), extending to the inner plexiform layer (IPL) and though the ganglion cell layer (GCL) and into the nerve fiber layer (NFL) (at protein level).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000102218 Expressed in 195 organ(s), highest expression level in bone marrow

CleanEx database of gene expression profiles

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CleanExi
HS_RP2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75695 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75695 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000234
HPA000909

<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

Found in a complex with ARL3, RP2 and UNC119 (or UNC119B); RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119 (or UNC119B). Interacts with ARL3; interaction is direct and stimulated with the activated GTP-bound form of ARL3.4 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

WithEntry#Exp.IntActNotes
Arl3Q9WUL75EBI-7996807,EBI-6860857From Mus musculus.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112029, 42 interactors

Database of interacting proteins

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DIPi
DIP-29024N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
O75695

Protein interaction database and analysis system

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IntActi
O75695, 10 interactors

Molecular INTeraction database

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MINTi
O75695

STRING: functional protein association networks

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STRINGi
9606.ENSP00000218340

<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

1350
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75695

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

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SMRi
O75695

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...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O75695

<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>Domaini24 – 179C-CAP/cofactor C-likePROSITE-ProRule annotationAdd BLAST156

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TBCC family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2512 Eukaryota
ENOG410Y28B LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158262

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007790

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054784

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75695

KEGG Orthology (KO)

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KOi
K18272

Identification of Orthologs from Complete Genome Data

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OMAi
GCFQYYY

Database of Orthologous Groups

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OrthoDBi
EOG091G0K00

Database for complete collections of gene phylogenies

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PhylomeDBi
O75695

TreeFam database of animal gene trees

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TreeFami
TF105832

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.160.20.70, 1 hit
3.30.70.141, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017901 C-CAP_CF_C-like
IPR016098 CAP/MinC_C
IPR036223 CAP_C_sf
IPR006599 CARP_motif
IPR036850 NDK-like_dom_sf
IPR012945 Tubulin-bd_cofactor_C_dom
IPR039093 XRP2

The PANTHER Classification System

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PANTHERi
PTHR15440 PTHR15440, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF07986 TBCC, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037947 Protein_XRP2_, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00673 CARP, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54919 SSF54919, 1 hit
SSF69340 SSF69340, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51329 C_CAP_COFACTOR_C, 1 hit

<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>Sequencei

<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.

O75695-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGCFFSKRRK ADKESRPENE EERPKQYSWD QREKVDPKDY MFSGLKDETV
60 70 80 90 100
GRLPGTVAGQ QFLIQDCENC NIYIFDHSAT VTIDDCTNCI IFLGPVKGSV
110 120 130 140 150
FFRNCRDCKC TLACQQFRVR DCRKLEVFLC CATQPIIESS SNIKFGCFQW
160 170 180 190 200
YYPELAFQFK DAGLSIFNNT WSNIHDFTPV SGELNWSLLP EDAVVQDYVP
210 220 230 240 250
IPTTEELKAV RVSTEANRSI VPISRGQRQK SSDESCLVVL FAGDYTIANA
260 270 280 290 300
RKLIDEMVGK GFFLVQTKEV SMKAEDAQRV FREKAPDFLP LLNKGPVIAL
310 320 330 340 350
EFNGDGAVEV CQLIVNEIFN GTKMFVSESK ETASGDVDSF YNFADIQMGI
Length:350
Mass (Da):39,641
Last modified:January 23, 2007 - v4
<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:i3C912B52C53A817E
GO

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 conflicti168N → D in CAA07577 (PubMed:9697692).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0084976Missing in RP2; loss of membrane association; enhances interaction with ARL3. 4 Publications1
Natural variantiVAR_01806967C → Y in RP2. 1 Publication1
Natural variantiVAR_01807086C → Y in RP2. 2 Publications1
Natural variantiVAR_01807195P → L in RP2; uncertain pathological significance. 2 Publications1
Natural variantiVAR_008498108C → G in RP2. 1
Natural variantiVAR_068353108C → Y in RP2. 1 Publication1
Natural variantiVAR_026058118R → C in RP2. 1 Publication1
Natural variantiVAR_008499118R → H in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location. 10 PublicationsCorresponds to variant dbSNP:rs28933687EnsemblClinVar.1
Natural variantiVAR_018072118R → L in RP2. 2 PublicationsCorresponds to variant dbSNP:rs28933687EnsemblClinVar.1
Natural variantiVAR_018073137Missing in RP2. 3 Publications1
Natural variantiVAR_018074138E → G in RP2; reduces affinity for ARL3 150-fold and inhibits the GTP-hydrolysis rate of ARL3. 3 Publications1
Natural variantiVAR_053961144K → R. Corresponds to variant dbSNP:rs3126141Ensembl.1
Natural variantiVAR_018075188L → P in RP2. 1 Publication1
Natural variantiVAR_008500253L → R in RP2. 1 Publication1
Natural variantiVAR_014535282R → W Polymorphism; reduces affinity for ARL3 3-fold. 7 PublicationsCorresponds to variant dbSNP:rs1805147EnsemblClinVar.1
Natural variantiVAR_014536338D → Y1 PublicationCorresponds to variant dbSNP:rs1805148Ensembl.1

Sequence databases

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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
AJ007590 mRNA Translation: CAA07577.1
AL050307 Genomic DNA No translation available.
AL627143 Genomic DNA No translation available.
BC043348 mRNA Translation: AAH43348.1
BC053530 mRNA Translation: AAH53530.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14270.1

NCBI Reference Sequences

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RefSeqi
NP_008846.2, NM_006915.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.44766

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000218340; ENSP00000218340; ENSG00000102218

Database of genes from NCBI RefSeq genomes

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GeneIDi
6102

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6102

UCSC genome browser

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UCSCi
uc004dgw.5 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

Mutations of the RP2 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007590 mRNA Translation: CAA07577.1
AL050307 Genomic DNA No translation available.
AL627143 Genomic DNA No translation available.
BC043348 mRNA Translation: AAH43348.1
BC053530 mRNA Translation: AAH53530.1
CCDSiCCDS14270.1
RefSeqiNP_008846.2, NM_006915.2
UniGeneiHs.44766

3D structure databases

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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
2BX6X-ray2.10A1-350[»]
3BH6X-ray2.60B1-350[»]
3BH7X-ray1.90B1-350[»]
ProteinModelPortaliO75695
SMRiO75695
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112029, 42 interactors
DIPiDIP-29024N
ELMiO75695
IntActiO75695, 10 interactors
MINTiO75695
STRINGi9606.ENSP00000218340

PTM databases

iPTMnetiO75695
PhosphoSitePlusiO75695
SwissPalmiO75695

Polymorphism and mutation databases

BioMutaiRP2

Proteomic databases

EPDiO75695
MaxQBiO75695
PaxDbiO75695
PeptideAtlasiO75695
PRIDEiO75695
ProteomicsDBi50167

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6102
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218340; ENSP00000218340; ENSG00000102218
GeneIDi6102
KEGGihsa:6102
UCSCiuc004dgw.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6102
DisGeNETi6102
EuPathDBiHostDB:ENSG00000102218.5

GeneCards: human genes, protein and diseases

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GeneCardsi
RP2
GeneReviewsiRP2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0016754
HGNCiHGNC:10274 RP2
HPAiHPA000234
HPA000909
MalaCardsiRP2
MIMi300757 gene
312600 phenotype
neXtProtiNX_O75695
OpenTargetsiENSG00000102218
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA34641

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2512 Eukaryota
ENOG410Y28B LUCA
GeneTreeiENSGT00940000158262
HOGENOMiHOG000007790
HOVERGENiHBG054784
InParanoidiO75695
KOiK18272
OMAiGCFQYYY
OrthoDBiEOG091G0K00
PhylomeDBiO75695
TreeFamiTF105832

Enzyme and pathway databases

ReactomeiR-HSA-5624138 Trafficking of myristoylated proteins to the cilium

Miscellaneous databases

EvolutionaryTraceiO75695

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RP2_(gene)

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

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GenomeRNAii
6102

Protein Ontology

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PROi
PR:O75695

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102218 Expressed in 195 organ(s), highest expression level in bone marrow
CleanExiHS_RP2
ExpressionAtlasiO75695 baseline and differential
GenevisibleiO75695 HS

Family and domain databases

Gene3Di2.160.20.70, 1 hit
3.30.70.141, 1 hit
InterProiView protein in InterPro
IPR017901 C-CAP_CF_C-like
IPR016098 CAP/MinC_C
IPR036223 CAP_C_sf
IPR006599 CARP_motif
IPR036850 NDK-like_dom_sf
IPR012945 Tubulin-bd_cofactor_C_dom
IPR039093 XRP2
PANTHERiPTHR15440 PTHR15440, 1 hit
PfamiView protein in Pfam
PF07986 TBCC, 1 hit
PIRSFiPIRSF037947 Protein_XRP2_, 1 hit
SMARTiView protein in SMART
SM00673 CARP, 2 hits
SUPFAMiSSF54919 SSF54919, 1 hit
SSF69340 SSF69340, 1 hit
PROSITEiView protein in PROSITE
PS51329 C_CAP_COFACTOR_C, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiXRP2_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: O75695
Secondary accession number(s): Q86XJ7, Q9NU67
<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: January 23, 2007
Last modified: December 5, 2018
This is version 175 of the entry and version 4 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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