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Entry version 121 (17 Jun 2020)
Sequence version 1 (01 Oct 2003)
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Protein

Protein RD3

Gene

RD3

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

Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:29515371, PubMed:21928830, PubMed:21078983, PubMed:27471269, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983). Up-regulates the activity of GUK1, a kinase that plays also an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371). Plays an important role for the survival of rods and cones in the retina (By similarity).By similarity5 Publications

<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 - Biological processi

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

Biological processSensory transduction, Vision

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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 RD3
Alternative name(s):
Retinal degeneration protein 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:RD3
Synonyms:C1orf36
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000198570.5

Human Gene Nomenclature Database

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HGNCi
HGNC:19689 RD3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
180040 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z3Z2

<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, Cytoplasm, Endosome, Nucleus

<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

Leber congenital amaurosis 12 (LCA12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi29L → F: Reduced the affinity of RD3 for GUCY2D. 1 Publication1
Mutagenesisi32E → K: Reduced the affinity of RD3 for GUCY2D. 1 Publication1
Mutagenesisi85C → L: Reduced the affinity of RD3 for GUCY2D. 1 Publication1
Mutagenesisi87 – 90KIHP → PHRL: Strongly affects RD3 ability to suppress GUCY2D activity. 1 Publication4
Mutagenesisi93 – 97CGPAI → PALSL: Strongly affects RD3 ability to suppress GUCY2D activity. 1 Publication5
Mutagenesisi93C → P: Reduced RD3 affinity for GUCY2D by 80-fold. 1 Publication1
Mutagenesisi93C → V: Increased the affinity of RD3 for GUCY2D. 1 Publication1
Mutagenesisi99 – 102RFRQ → FRQR: Strongly affects RD3 ability to suppress GUCY2D activity. 1 Publication4
Mutagenesisi108E → K: Does not affect affinity of RD3 for GUCY2D. 1 Publication1
Mutagenesisi119 – 122RSVL → LAER: Strongly affects RD3 ability to suppress GUCY2D activity. 1 Publication4

Keywords - Diseasei

Leber congenital amaurosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
343035

MalaCards human disease database

More...
MalaCardsi
RD3
MIMi610612 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198570

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

More...
Orphaneti
65 Leber congenital amaurosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162400998

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7Z3Z2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RD3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71152353

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000892481 – 195Protein RD3Add BLAST195

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z3Z2

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

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PaxDbi
Q7Z3Z2

PeptideAtlas

More...
PeptideAtlasi
Q7Z3Z2

PRoteomics IDEntifications database

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PRIDEi
Q7Z3Z2

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
69099

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z3Z2

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

More...
PhosphoSitePlusi
Q7Z3Z2

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

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

Expressed in retina (PubMed:12914764). Widely expressed (at protein level) (PubMed:29030614). In the retina the strongest immunoreactivity is detected in the inner half of the cytoplasmic portion of the photoreceptor layer, where rods and cones are found, and the external half of the outer plexiform layer (at protein level) (PubMed:29030614).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198570 Expressed in pigmented layer of retina and 51 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z3Z2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000198570 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (PubMed:30559291).

Interacts with GUCY2D; negatively regulates its activity (PubMed:21928830, PubMed:26100624, PubMed:27471269, PubMed:30559291). The interaction with GUCY2D promotes the exit of GUCY2D from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (PubMed:21078983).

Interacts with GUCY2F (By similarity). The interaction with GUCY2F negatively regulates GUCY2F activity (PubMed:29515371). The interaction with GUCY2F promotes the exit of GUCY2F from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (PubMed:21078983).

Interacts with GUK1; up-regulates GUK1 activity (PubMed:29515371).

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
131222, 12 interactors

Protein interaction database and analysis system

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IntActi
Q7Z3Z2, 10 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000355969

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q7Z3Z2 protein

<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

1195
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q7Z3Z2

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili23 – 52Sequence analysisAdd BLAST30

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IK8N Eukaryota
ENOG4111AQS LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002089

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_107621_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z3Z2

Identification of Orthologs from Complete Genome Data

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OMAi
MASWFSW

Database of Orthologous Groups

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OrthoDBi
1505645at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z3Z2

TreeFam database of animal gene trees

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TreeFami
TF331573

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028092 RD3

The PANTHER Classification System

More...
PANTHERi
PTHR28489 PTHR28489, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14473 RD3, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

Q7Z3Z2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSLISWLRWN EAPSRLSTRS PAEMVLETLM MELTGQMREA ERQQRERSNA
60 70 80 90 100
VRKVCTGVDY SWLASTPRST YDLSPIERLQ LEDVCVKIHP SYCGPAILRF
110 120 130 140 150
RQLLAEQEPE VQEVSQLFRS VLQEVLERMK QEEEAHKLTR QWSLRPRGSL
160 170 180 190
ATFKTRARIS PFASDIRTIS EDVERDTPPP LRSWSMPEFR APKAD
Length:195
Mass (Da):22,704
Last modified:October 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF9AB60B761E55779
GO

Natural variant

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_0315106W → R in an individual with an atypical late-onset form of retinitis pigmentosa; does not affect ability to suppress GUCY2D activity induced by GCAPA. 2 PublicationsCorresponds to variant dbSNP:rs35649846Ensembl.1
Natural variantiVAR_03151123E → D in an individual with an atypical late-onset form of retinitis pigmentosa. 1 PublicationCorresponds to variant dbSNP:rs34422496Ensembl.1
Natural variantiVAR_03151235G → R Does not affect ability to suppress GUCY2D activity induced by GCAPA. 2 PublicationsCorresponds to variant dbSNP:rs530024772Ensembl.1
Natural variantiVAR_02305047R → C2 PublicationsCorresponds to variant dbSNP:rs34049451EnsemblClinVar.1
Natural variantiVAR_03151357G → V in an individual with cone-rod degeneration; abolishes protein expression; less effective in suppressing GUCY2D activity by GCAPA. 2 PublicationsCorresponds to variant dbSNP:rs767481165Ensembl.1
Natural variantiVAR_03151468R → W Less effective in suppressing GUCY2D activity induced by GCAPA. 2 PublicationsCorresponds to variant dbSNP:rs144697496EnsemblClinVar.1
Natural variantiVAR_031515130K → M in an individual with cone-rod dystrophy features; less effective in suppressing GUCY2D activity by GCAPA. 2 PublicationsCorresponds to variant dbSNP:rs766015590Ensembl.1
Natural variantiVAR_031516167R → K1 PublicationCorresponds to variant dbSNP:rs74782684Ensembl.1
Natural variantiVAR_031517195D → V1 PublicationCorresponds to variant dbSNP:rs143207434EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY191519 mRNA Translation: AAP12678.1
AK291210 mRNA Translation: BAF83899.1
CH471100 Genomic DNA Translation: EAW93414.1
BC065541 mRNA Translation: AAH65541.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1498.1

NCBI Reference Sequences

More...
RefSeqi
NP_001158160.1, NM_001164688.1
NP_898882.1, NM_183059.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000367002; ENSP00000355969; ENSG00000198570

Database of genes from NCBI RefSeq genomes

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GeneIDi
343035

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:343035

UCSC genome browser

More...
UCSCi
uc001him.2 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY191519 mRNA Translation: AAP12678.1
AK291210 mRNA Translation: BAF83899.1
CH471100 Genomic DNA Translation: EAW93414.1
BC065541 mRNA Translation: AAH65541.1
CCDSiCCDS1498.1
RefSeqiNP_001158160.1, NM_001164688.1
NP_898882.1, NM_183059.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
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
6DRFNMR-A19-153[»]
SMRiQ7Z3Z2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi131222, 12 interactors
IntActiQ7Z3Z2, 10 interactors
STRINGi9606.ENSP00000355969

PTM databases

iPTMnetiQ7Z3Z2
PhosphoSitePlusiQ7Z3Z2

Polymorphism and mutation databases

BioMutaiRD3
DMDMi71152353

Proteomic databases

jPOSTiQ7Z3Z2
PaxDbiQ7Z3Z2
PeptideAtlasiQ7Z3Z2
PRIDEiQ7Z3Z2
ProteomicsDBi69099

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
47112 66 antibodies

Genome annotation databases

EnsembliENST00000367002; ENSP00000355969; ENSG00000198570
GeneIDi343035
KEGGihsa:343035
UCSCiuc001him.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
343035
DisGeNETi343035
EuPathDBiHostDB:ENSG00000198570.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RD3
HGNCiHGNC:19689 RD3
HPAiENSG00000198570 Low tissue specificity
MalaCardsiRD3
MIMi180040 gene
610612 phenotype
neXtProtiNX_Q7Z3Z2
OpenTargetsiENSG00000198570
Orphaneti65 Leber congenital amaurosis
PharmGKBiPA162400998

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IK8N Eukaryota
ENOG4111AQS LUCA
GeneTreeiENSGT00390000002089
HOGENOMiCLU_107621_0_0_1
InParanoidiQ7Z3Z2
OMAiMASWFSW
OrthoDBi1505645at2759
PhylomeDBiQ7Z3Z2
TreeFamiTF331573

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
343035 1 hit in 780 CRISPR screens

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

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ChiTaRSi
RD3 human

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

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GenomeRNAii
343035
PharosiQ7Z3Z2 Tbio

Protein Ontology

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PROi
PR:Q7Z3Z2
RNActiQ7Z3Z2 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198570 Expressed in pigmented layer of retina and 51 other tissues
GenevisibleiQ7Z3Z2 HS

Family and domain databases

InterProiView protein in InterPro
IPR028092 RD3
PANTHERiPTHR28489 PTHR28489, 1 hit
PfamiView protein in Pfam
PF14473 RD3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiRD3_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: Q7Z3Z2
Secondary accession number(s): A8K595
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: October 1, 2003
Last modified: June 17, 2020
This is version 121 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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