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UniProtKB - O43186 (CRX_HUMAN)

Entry version 197 (02 Dec 2020)
Sequence version 1 (01 Jun 1998)
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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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43186

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%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:
Cone-rod homeobox protein
<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:CRX
Synonyms:CORD2
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 19

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000105392.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:2383, CRX

Online Mendelian Inheritance in Man (OMIM)

More...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 & Seán O’Donoghue; 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.
Related information in OMIM
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.
Related information in OMIM
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.
Related information in OMIM
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.

More...GeneReviewsi		CRX

MalaCards human disease database

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

Open Targets

More...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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43186, Tbio

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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000488621 – 299Cone-rod homeobox proteinAdd BLAST299

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43186

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

More...PaxDbi		O43186

PeptideAtlas

More...PeptideAtlasi		O43186

PRoteomics IDEntifications database

More...PRIDEi		O43186

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48803

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43186

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

More...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 pigmented layer of retina and 37 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43186, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43186, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000105392, Tissue enriched (retina)

<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

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%5Fsection">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

O43186
With#Exp.IntAct
AASDHPPT [Q9NRN7]3EBI-748171,EBI-740884
ABI2 [Q9NYB9]5EBI-748171,EBI-743598
ACBD4 [K7EM05]3EBI-748171,EBI-16431307
ARIH2 [O95376]3EBI-748171,EBI-711158
ATG12 [O94817]3EBI-748171,EBI-746742
ATP6V0D2 [Q8N8Y2]3EBI-748171,EBI-3923949
ATXN1 [P54253]3EBI-748171,EBI-930964
BANF2 - isoform 2 [Q9H503-2]3EBI-748171,EBI-11977289
BANP [A0A0S2Z5G4]3EBI-748171,EBI-16429704
BANP [B4DE54]3EBI-748171,EBI-16429313
BANP - isoform 2 [Q8N9N5-2]6EBI-748171,EBI-11524452
BANP - isoform 7 [Q8N9N5-7]3EBI-748171,EBI-16429296
BOD1L2 [Q8IYS8]3EBI-748171,EBI-12118438
C19orf25 [Q9UFG5]3EBI-748171,EBI-741214
C1orf109 [Q9NX04]3EBI-748171,EBI-8643161
C1orf50 [Q9BV19]3EBI-748171,EBI-2874661
C9orf72 [Q96LT7]3EBI-748171,EBI-2961725
CA8 [P35219]7EBI-748171,EBI-718700
CCNC [P24863]4EBI-748171,EBI-395261
CDKN2C [P42773]3EBI-748171,EBI-711290
CFAP206 [Q8IYR0]3EBI-748171,EBI-749051
CTNNA3 - isoform 2 [Q9UI47-2]3EBI-748171,EBI-11962928
DELE1 [Q14154]3EBI-748171,EBI-2805660
EIF5A [P63241]3EBI-748171,EBI-373150
FAAP20 - isoform 4 [Q6NZ36-4]3EBI-748171,EBI-12013806
FOXH1 [O75593]3EBI-748171,EBI-1759806
GCM2 [O75603]11EBI-748171,EBI-10188645
GLIS2 [Q9BZE0]3EBI-748171,EBI-7251368
GUCD1 [Q96NT3]3EBI-748171,EBI-8293751
GYS1 [P13807]3EBI-748171,EBI-740553
hCG_1987119 [A0A024R8L2]3EBI-748171,EBI-14103818
HGS [O14964]6EBI-748171,EBI-740220
HNF1B [P35680]3EBI-748171,EBI-2798841
IGFN1 - isoform 5 [Q86VF2-5]3EBI-748171,EBI-11955401
IRX6 [P78412]3EBI-748171,EBI-12100506
KANK2 [Q63ZY3]3EBI-748171,EBI-2556193
KLHL32 [Q5THT1]3EBI-748171,EBI-10247181
LARP4 - isoform 6 [Q71RC2-6]3EBI-748171,EBI-10255841
LGALS3 [P17931]3EBI-748171,EBI-1170392
LIMS4 [P0CW20]3EBI-748171,EBI-10196832
LNX1 [Q8TBB1]3EBI-748171,EBI-739832
LONRF1 [Q17RB8]5EBI-748171,EBI-2341787
M1AP [Q8TC57]4EBI-748171,EBI-748182
MENT [Q9BUN1]3EBI-748171,EBI-12022316
MLLT6 [Q6P2C6]3EBI-748171,EBI-5773143
MYOZ1 [Q9NP98]3EBI-748171,EBI-744402
NEIL2 [Q969S2]3EBI-748171,EBI-10281234
NFYC - isoform 1 [Q13952-2]3EBI-748171,EBI-11956831
NIP7 [Q9Y221]3EBI-748171,EBI-749003
NTF4 [P34130]3EBI-748171,EBI-3907456
OR6B1 [O95007]3EBI-748171,EBI-12176191
OSGIN1 [Q9UJX0]3EBI-748171,EBI-9057006
PID1 [Q7Z2X4]3EBI-748171,EBI-10256685
PNMA6A [P0CW24]3EBI-748171,EBI-721270
POGZ [Q7Z3K3]3EBI-748171,EBI-1389308
PPP1R16B [Q96T49]4EBI-748171,EBI-10293968
PRKAB2 [O43741]9EBI-748171,EBI-1053424
PRR35 [P0CG20]3EBI-748171,EBI-11986293
PSMA1 [P25786]3EBI-748171,EBI-359352
PSMB10 [P40306]3EBI-748171,EBI-603329
QRICH1 [Q2TAL8]6EBI-748171,EBI-2798044
RHOXF2 [Q9BQY4]3EBI-748171,EBI-372094
ROR2 [A1L4F5]3EBI-748171,EBI-10172778
ROR2 [Q01974]4EBI-748171,EBI-6422642
SAE1 [Q9UBE0]3EBI-748171,EBI-743154
SDCBP [O00560]3EBI-748171,EBI-727004
SEC14L4 [Q9UDX3]3EBI-748171,EBI-10320311
SMAD3 [P84022]3EBI-748171,EBI-347161
SMAP1 - isoform 2 [Q8IYB5-2]3EBI-748171,EBI-12061577
SMAP2 [Q8WU79]3EBI-748171,EBI-2822515
SMUG1 [Q53HV7]3EBI-748171,EBI-749970
SOX10 [P56693]3EBI-748171,EBI-1167533
SOX14 [O95416]3EBI-748171,EBI-9087806
SOX3 [P41225]3EBI-748171,EBI-9078386
SOX5 [P35711]4EBI-748171,EBI-3505701
SOX5 - isoform 4 [P35711-4]3EBI-748171,EBI-11954419
SPG21 [Q9NZD8]3EBI-748171,EBI-742688
STK16 [O75716]3EBI-748171,EBI-749295
SUFU [Q9UMX1]3EBI-748171,EBI-740595
SUOX [P51687]3EBI-748171,EBI-3921347
SZT2 - isoform 3 [Q5T011-5]3EBI-748171,EBI-10245139
TBX6 [O95947]3EBI-748171,EBI-2824328
TCF7L2 - isoform 10 [Q9NQB0-10]3EBI-748171,EBI-11746252
TEX33 - isoform 2 [O43247-2]3EBI-748171,EBI-12093053
TFG [Q92734]3EBI-748171,EBI-357061
TLE5 [Q08117]3EBI-748171,EBI-717810
TLE5 - isoform 2 [Q08117-2]3EBI-748171,EBI-11741437
TLX3 [O43711]3EBI-748171,EBI-3939165
TNS2 [Q63HR2]3EBI-748171,EBI-949753
UBXN2B [Q14CS0]3EBI-748171,EBI-1993619
UBXN7 [O94888]3EBI-748171,EBI-1993627
VPS37C [A5D8V6]3EBI-748171,EBI-2559305
ZC3H10 [Q96K80]3EBI-748171,EBI-742550
ZIC1 [Q15915]3EBI-748171,EBI-11963196
ZNF483 [Q6P088]3EBI-748171,EBI-10196963
ZNF688 [A0A0S2Z6P0]3EBI-748171,EBI-16429989
tax [P03410] from Human T-cell leukemia virus 2.3EBI-748171,EBI-9676218

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107796, 117 interactors

Protein interaction database and analysis system

More...IntActi		O43186, 109 interactors

Molecular INTeraction database

More...MINTi		O43186

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000221996

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43186, 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

3D structure databases

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

More...SMRi		O43186

Database of comparative protein structure models

More...ModBasei		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

More...eggNOGi		KOG2251, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161634

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_064370_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43186

Identification of Orthologs from Complete Genome Data

More...OMAi		TWKFAYN

Database of Orthologous Groups

More...OrthoDBi		1481439at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43186

TreeFam database of animal gene trees

More...TreeFami		TF351179

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR013851, Otx_TF_C

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...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%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>Sequence (1+)i

<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.

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 PublicationCorresponds to variant dbSNP:rs1165723137Ensembl.1
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

More...EMBLi

GenBank nucleotide sequence database

More...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

More...CCDSi		CCDS12706.1

NCBI Reference Sequences

More...RefSeqi		NP_000545.1, NM_000554.5

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000221996; ENSP00000221996; ENSG00000105392
ENST00000539067; ENSP00000445565; ENSG00000105392

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1406

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1406

UCSC genome browser

More...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%5Freferences%5Fsection">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

3D structure databases

SMRiO43186
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107796, 117 interactors
IntActiO43186, 109 interactors
MINTiO43186
STRINGi9606.ENSP00000221996

PTM databases

iPTMnetiO43186
PhosphoSitePlusiO43186

Polymorphism and mutation databases

BioMutaiCRX

Proteomic databases

MassIVEiO43186
PaxDbiO43186
PeptideAtlasiO43186
PRIDEiO43186
ProteomicsDBi48803

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31635, 252 antibodies

The DNASU plasmid repository

More...DNASUi		1406

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1406
DisGeNETi1406
EuPathDBiHostDB:ENSG00000105392.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		CRX
GeneReviewsiCRX
HGNCiHGNC:2383, CRX
HPAiENSG00000105392, Tissue enriched (retina)
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

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2251, Eukaryota
GeneTreeiENSGT00940000161634
HOGENOMiCLU_064370_0_0_1
InParanoidiO43186
OMAiTWKFAYN
OrthoDBi1481439at2759
PhylomeDBiO43186
TreeFamiTF351179

Enzyme and pathway databases

PathwayCommonsiO43186
SIGNORiO43186

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1406, 12 hits in 862 CRISPR screens

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

More...ChiTaRSi		CRX, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CRX_(gene)

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

More...GenomeRNAii		1406
PharosiO43186, Tbio

Protein Ontology

More...PROi		PR:O43186
RNActiO43186, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000105392, Expressed in pigmented layer of retina and 37 other tissues
ExpressionAtlasiO43186, baseline and differential
GenevisibleiO43186, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR013851, Otx_TF_C
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 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%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 15, 1998
Last sequence update: June 1, 1998
Last modified: December 2, 2020
This is version 197 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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