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Protein

Cone-rod homeobox protein

Gene

CRX

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

Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi39 – 98HomeoboxPROSITE-ProRule annotationAdd BLAST60

<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 functionActivator, Developmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Sensory transduction, Transcription, Transcription regulation, Vision

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O43186

<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:
Cone-rod homeobox protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CRX
Synonyms:CORD2
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000105392.15

Human Gene Nomenclature Database

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HGNCi
HGNC:2383 CRX

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602225 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43186

<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

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 7 (LCA7)5 Publications
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.
See also OMIM:613829
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_06718942E → K in LCA7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224863EnsemblClinVar.1
Natural variantiVAR_06391988K → N in LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm. 1 Publication1
Natural variantiVAR_00871490R → W in LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894673EnsemblClinVar.1
Natural variantiVAR_007947146 – 149Missing in LCA7. 1 Publication4
Cone-rod dystrophy 2 (CORD2)4 Publications
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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:120970
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00375041R → W in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894672EnsemblClinVar.1
Natural variantiVAR_00375180E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs104894671EnsemblClinVar.1
Natural variantiVAR_007949242V → M in CORD2. 1 PublicationCorresponds to variant dbSNP:rs61748459EnsemblClinVar.1
Retinitis pigmentosa (RP)3 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:268000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00794641R → Q in RP. 3 PublicationsCorresponds to variant dbSNP:rs61748436EnsemblClinVar.1
Natural variantiVAR_076958115R → Q in RP; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750727986Ensembl.1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
1406

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

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GeneReviewsi
CRX

MalaCards human disease database

More...
MalaCardsi
CRX
MIMi120970 phenotype
268000 phenotype
613829 phenotype

Open Targets

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OpenTargetsi
ENSG00000105392

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

More...
Orphaneti
1872 Cone rod dystrophy
65 Leber congenital amaurosis
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26903

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CRX

<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_00000488621 – 299Cone-rod homeobox proteinAdd BLAST299

Proteomic databases

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

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PaxDbi
O43186

PeptideAtlas

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PeptideAtlasi
O43186

PRoteomics IDEntifications database

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PRIDEi
O43186

ProteomicsDB human proteome resource

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ProteomicsDBi
48803

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43186

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

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PhosphoSitePlusi
O43186

<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

Retina.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000105392 Expressed in 24 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

More...
CleanExi
HS_CRX

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43186 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43186 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA036762
HPA036763

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

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

Interacts (via the homeobox) with NRL (via the leucine-zipper domain). Interacts with PDC, RAX2, RORB and SCA7.2 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
107796, 49 interactors

Protein interaction database and analysis system

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IntActi
O43186, 105 interactors

Molecular INTeraction database

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MINTi
O43186

STRING: functional protein association networks

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STRINGi
9606.ENSP00000221996

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43186

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

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SMRi
O43186

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

<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 paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2251 Eukaryota
ENOG4111XIJ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161634

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000082677

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004028

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43186

KEGG Orthology (KO)

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KOi
K09337

Identification of Orthologs from Complete Genome Data

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OMAi
VDLMHPA

Database of Orthologous Groups

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OrthoDBi
EOG091G0K9K

Database for complete collections of gene phylogenies

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PhylomeDBi
O43186

TreeFam database of animal gene trees

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TreeFami
TF351179

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR032966 CRX
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR013851 Otx_TF_C

The PANTHER Classification System

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PANTHERi
PTHR24329:SF331 PTHR24329:SF331, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit
PF03529 TF_Otx, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

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

O43186-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMAYMNPGPH YSVNALALSG PSVDLMHQAV PYPSAPRKQR RERTTFTRSQ
60 70 80 90 100
LEELEALFAK TQYPDVYARE EVALKINLPE SRVQVWFKNR RAKCRQQRQQ
110 120 130 140 150
QKQQQQPPGG QAKARPAKRK AGTSPRPSTD VCPDPLGISD SYSPPLPGPS
160 170 180 190 200
GSPTTAVATV SIWSPASESP LPEAQRAGLV ASGPSLTSAP YAMTYAPASA
210 220 230 240 250
FCSSPSAYGS PSSYFSGLDP YLSPMVPQLG GPALSPLSGP SVGPSLAQSP
260 270 280 290
TSLSGQSYGA YSPVDSLEFK DPTGTWKFTY NPMDPLDYKD QSAWKFQIL
Length:299
Mass (Da):32,261
Last modified:June 1, 1998 - 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:i46747C09277A0864
GO

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

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BUU7H3BUU7_HUMAN
Cone-rod homeobox protein
CRX
57Annotation 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>
A0A087WTS9A0A087WTS9_HUMAN
Cone-rod homeobox protein
CRX
41Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07695610H → D1 PublicationCorresponds to variant dbSNP:rs139340178EnsemblClinVar.1
Natural variantiVAR_00794641R → Q in RP. 3 PublicationsCorresponds to variant dbSNP:rs61748436EnsemblClinVar.1
Natural variantiVAR_00375041R → W in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894672EnsemblClinVar.1
Natural variantiVAR_06718942E → K in LCA7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224863EnsemblClinVar.1
Natural variantiVAR_07695766V → I1 PublicationCorresponds to variant dbSNP:rs61748438EnsemblClinVar.1
Natural variantiVAR_00375180E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs104894671EnsemblClinVar.1
Natural variantiVAR_06391988K → N in LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm. 1 Publication1
Natural variantiVAR_00871490R → W in LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894673EnsemblClinVar.1
Natural variantiVAR_076958115R → Q in RP; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750727986Ensembl.1
Natural variantiVAR_008282122G → D2 PublicationsCorresponds to variant dbSNP:rs61748441EnsemblClinVar.1
Natural variantiVAR_036438141S → F in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_007947146 – 149Missing in LCA7. 1 Publication4
Natural variantiVAR_067190154T → A1 PublicationCorresponds to variant dbSNP:rs763651232Ensembl.1
Natural variantiVAR_007948158A → T2 PublicationsCorresponds to variant dbSNP:rs61748445EnsemblClinVar.1
Natural variantiVAR_007949242V → M in CORD2. 1 PublicationCorresponds to variant dbSNP:rs61748459EnsemblClinVar.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
AF024711 Genomic DNA Translation: AAB88418.1
BT007364 mRNA Translation: AAP36028.1
AC008745 Genomic DNA No translation available.
BC016664 mRNA No translation available.
BC053672 mRNA No translation available.
DQ426868 mRNA Translation: ABD90533.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS12706.1

NCBI Reference Sequences

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RefSeqi
NP_000545.1, NM_000554.5

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.617342
Hs.633434
Hs.639114

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000221996; ENSP00000221996; ENSG00000105392
ENST00000539067; ENSP00000445565; ENSG00000105392

Database of genes from NCBI RefSeq genomes

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GeneIDi
1406

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1406

UCSC genome browser

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UCSCi
uc002phq.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 CRX gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF024711 Genomic DNA Translation: AAB88418.1
BT007364 mRNA Translation: AAP36028.1
AC008745 Genomic DNA No translation available.
BC016664 mRNA No translation available.
BC053672 mRNA No translation available.
DQ426868 mRNA Translation: ABD90533.1
CCDSiCCDS12706.1
RefSeqiNP_000545.1, NM_000554.5
UniGeneiHs.617342
Hs.633434
Hs.639114

3D structure databases

ProteinModelPortaliO43186
SMRiO43186
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107796, 49 interactors
IntActiO43186, 105 interactors
MINTiO43186
STRINGi9606.ENSP00000221996

PTM databases

iPTMnetiO43186
PhosphoSitePlusiO43186

Polymorphism and mutation databases

BioMutaiCRX

Proteomic databases

PaxDbiO43186
PeptideAtlasiO43186
PRIDEiO43186
ProteomicsDBi48803

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1406
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221996; ENSP00000221996; ENSG00000105392
ENST00000539067; ENSP00000445565; ENSG00000105392
GeneIDi1406
KEGGihsa:1406
UCSCiuc002phq.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1406
DisGeNETi1406
EuPathDBiHostDB:ENSG00000105392.15

GeneCards: human genes, protein and diseases

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GeneCardsi
CRX
GeneReviewsiCRX
HGNCiHGNC:2383 CRX
HPAiHPA036762
HPA036763
MalaCardsiCRX
MIMi120970 phenotype
268000 phenotype
602225 gene
613829 phenotype
neXtProtiNX_O43186
OpenTargetsiENSG00000105392
Orphaneti1872 Cone rod dystrophy
65 Leber congenital amaurosis
791 Retinitis pigmentosa
PharmGKBiPA26903

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2251 Eukaryota
ENOG4111XIJ LUCA
GeneTreeiENSGT00940000161634
HOGENOMiHOG000082677
HOVERGENiHBG004028
InParanoidiO43186
KOiK09337
OMAiVDLMHPA
OrthoDBiEOG091G0K9K
PhylomeDBiO43186
TreeFamiTF351179

Enzyme and pathway databases

SIGNORiO43186

Miscellaneous databases

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

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ChiTaRSi
CRX human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CRX_(gene)

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

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GenomeRNAii
1406

Protein Ontology

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PROi
PR:O43186

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000105392 Expressed in 24 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_CRX
ExpressionAtlasiO43186 baseline and differential
GenevisibleiO43186 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR032966 CRX
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR013851 Otx_TF_C
PANTHERiPTHR24329:SF331 PTHR24329:SF331, 1 hit
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF03529 TF_Otx, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiCRX_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: O43186
Secondary accession number(s): Q0QD45
<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: July 15, 1998
Last sequence update: June 1, 1998
Last modified: December 5, 2018
This is version 183 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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