UniProtKB - O43186 (CRX_HUMAN)
Protein
Cone-rod homeobox protein
Gene
CRX
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 39 – 98 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- leucine zipper domain binding Source: UniProtKB
- nuclear hormone receptor binding Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- animal organ morphogenesis Source: ProtInc
- cell differentiation Source: UniProtKB-KW
- nervous system development Source: UniProtKB-KW
- positive regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of transcription, DNA-templated Source: UniProtKB
- response to stimulus Source: UniProtKB-KW
- visual perception Source: ProtInc
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Differentiation, Neurogenesis, Sensory transduction, Transcription, Transcription regulation, Vision |
Enzyme and pathway databases
PathwayCommonsi | O43186 |
SIGNORi | O43186 |
Names & Taxonomyi
Protein namesi | Recommended name: Cone-rod homeobox protein |
Gene namesi | Name:CRX Synonyms:CORD2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000105392.15 |
HGNCi | HGNC:2383, CRX |
MIMi | 602225, gene |
neXtProti | NX_O43186 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067189 | 42 | E → K in LCA7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224863EnsemblClinVar. | 1 | |
Natural variantiVAR_063919 | 88 | K → N in LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm. 1 Publication | 1 | |
Natural variantiVAR_008714 | 90 | R → W in LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894673EnsemblClinVar. | 1 | |
Natural variantiVAR_007947 | 146 – 149 | Missing in LCA7. 1 Publication | 4 |
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003750 | 41 | R → W in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894672EnsemblClinVar. | 1 | |
Natural variantiVAR_003751 | 80 | E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs104894671EnsemblClinVar. | 1 | |
Natural variantiVAR_007949 | 242 | V → 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_007946 | 41 | R → Q in RP. 3 PublicationsCorresponds to variant dbSNP:rs61748436EnsemblClinVar. | 1 | |
Natural variantiVAR_076958 | 115 | R → Q in RP; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750727986Ensembl. | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Disease mutation, Leber congenital amaurosis, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 1406 |
GeneReviewsi | CRX |
MalaCardsi | CRX |
MIMi | 120970, phenotype 268000, phenotype 613829, phenotype |
OpenTargetsi | ENSG00000105392 |
Orphaneti | 1872, Cone rod dystrophy 65, Leber congenital amaurosis 791, Retinitis pigmentosa |
PharmGKBi | PA26903 |
Miscellaneous databases
Pharosi | O43186, Tbio |
Polymorphism and mutation databases
BioMutai | CRX |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048862 | 1 – 299 | Cone-rod homeobox proteinAdd BLAST | 299 |
Proteomic databases
MassIVEi | O43186 |
PaxDbi | O43186 |
PeptideAtlasi | O43186 |
PRIDEi | O43186 |
ProteomicsDBi | 48803 |
PTM databases
iPTMneti | O43186 |
PhosphoSitePlusi | O43186 |
Expressioni
Tissue specificityi
Retina.
Gene expression databases
Bgeei | ENSG00000105392, Expressed in pigmented layer of retina and 37 other tissues |
ExpressionAtlasi | O43186, baseline and differential |
Genevisiblei | O43186, HS |
Organism-specific databases
HPAi | ENSG00000105392, Tissue enriched (retina) |
Interactioni
Subunit structurei
Interacts (via the homeobox) with NRL (via the leucine-zipper domain).
Interacts with PDC, RAX2, RORB and SCA7.
2 PublicationsBinary interactionsi
O43186
GO - Molecular functioni
- leucine zipper domain binding Source: UniProtKB
- nuclear hormone receptor binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 107796, 117 interactors |
IntActi | O43186, 109 interactors |
MINTi | O43186 |
STRINGi | 9606.ENSP00000221996 |
Miscellaneous databases
RNActi | O43186, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the paired homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG2251, Eukaryota |
GeneTreei | ENSGT00940000161634 |
HOGENOMi | CLU_064370_0_0_1 |
InParanoidi | O43186 |
OMAi | TWKFAYN |
OrthoDBi | 1481439at2759 |
PhylomeDBi | O43186 |
TreeFami | TF351179 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR013851, Otx_TF_C |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03529, TF_Otx, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
(1+)i Sequence
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
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BUU7 | H3BUU7_HUMAN | Cone-rod homeobox protein | CRX | 57 | Annotation score: | ||
A0A087WTS9 | A0A087WTS9_HUMAN | Cone-rod homeobox protein | CRX | 41 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076956 | 10 | H → D1 PublicationCorresponds to variant dbSNP:rs139340178EnsemblClinVar. | 1 | |
Natural variantiVAR_007946 | 41 | R → Q in RP. 3 PublicationsCorresponds to variant dbSNP:rs61748436EnsemblClinVar. | 1 | |
Natural variantiVAR_003750 | 41 | R → W in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894672EnsemblClinVar. | 1 | |
Natural variantiVAR_067189 | 42 | E → K in LCA7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224863EnsemblClinVar. | 1 | |
Natural variantiVAR_076957 | 66 | V → I1 PublicationCorresponds to variant dbSNP:rs61748438EnsemblClinVar. | 1 | |
Natural variantiVAR_003751 | 80 | E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs104894671EnsemblClinVar. | 1 | |
Natural variantiVAR_063919 | 88 | K → N in LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm. 1 Publication | 1 | |
Natural variantiVAR_008714 | 90 | R → W in LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894673EnsemblClinVar. | 1 | |
Natural variantiVAR_076958 | 115 | R → Q in RP; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750727986Ensembl. | 1 | |
Natural variantiVAR_008282 | 122 | G → D2 PublicationsCorresponds to variant dbSNP:rs61748441EnsemblClinVar. | 1 | |
Natural variantiVAR_036438 | 141 | S → F in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1165723137Ensembl. | 1 | |
Natural variantiVAR_007947 | 146 – 149 | Missing in LCA7. 1 Publication | 4 | |
Natural variantiVAR_067190 | 154 | T → A1 PublicationCorresponds to variant dbSNP:rs763651232Ensembl. | 1 | |
Natural variantiVAR_007948 | 158 | A → T2 PublicationsCorresponds to variant dbSNP:rs61748445EnsemblClinVar. | 1 | |
Natural variantiVAR_007949 | 242 | V → M in CORD2. 1 PublicationCorresponds to variant dbSNP:rs61748459EnsemblClinVar. | 1 |
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 |
CCDSi | CCDS12706.1 |
RefSeqi | NP_000545.1, NM_000554.5 |
Genome annotation databases
Ensembli | ENST00000221996; ENSP00000221996; ENSG00000105392 ENST00000539067; ENSP00000445565; ENSG00000105392 |
GeneIDi | 1406 |
KEGGi | hsa:1406 |
UCSCi | uc002phq.5, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS12706.1 |
RefSeqi | NP_000545.1, NM_000554.5 |
3D structure databases
SMRi | O43186 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107796, 117 interactors |
IntActi | O43186, 109 interactors |
MINTi | O43186 |
STRINGi | 9606.ENSP00000221996 |
PTM databases
iPTMneti | O43186 |
PhosphoSitePlusi | O43186 |
Polymorphism and mutation databases
BioMutai | CRX |
Proteomic databases
MassIVEi | O43186 |
PaxDbi | O43186 |
PeptideAtlasi | O43186 |
PRIDEi | O43186 |
ProteomicsDBi | 48803 |
Protocols and materials databases
Antibodypediai | 31635, 252 antibodies |
DNASUi | 1406 |
Genome annotation databases
Ensembli | ENST00000221996; ENSP00000221996; ENSG00000105392 ENST00000539067; ENSP00000445565; ENSG00000105392 |
GeneIDi | 1406 |
KEGGi | hsa:1406 |
UCSCi | uc002phq.5, human |
Organism-specific databases
CTDi | 1406 |
DisGeNETi | 1406 |
EuPathDBi | HostDB:ENSG00000105392.15 |
GeneCardsi | CRX |
GeneReviewsi | CRX |
HGNCi | HGNC:2383, CRX |
HPAi | ENSG00000105392, Tissue enriched (retina) |
MalaCardsi | CRX |
MIMi | 120970, phenotype 268000, phenotype 602225, gene 613829, phenotype |
neXtProti | NX_O43186 |
OpenTargetsi | ENSG00000105392 |
Orphaneti | 1872, Cone rod dystrophy 65, Leber congenital amaurosis 791, Retinitis pigmentosa |
PharmGKBi | PA26903 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2251, Eukaryota |
GeneTreei | ENSGT00940000161634 |
HOGENOMi | CLU_064370_0_0_1 |
InParanoidi | O43186 |
OMAi | TWKFAYN |
OrthoDBi | 1481439at2759 |
PhylomeDBi | O43186 |
TreeFami | TF351179 |
Enzyme and pathway databases
PathwayCommonsi | O43186 |
SIGNORi | O43186 |
Miscellaneous databases
BioGRID-ORCSi | 1406, 12 hits in 862 CRISPR screens |
ChiTaRSi | CRX, human |
GeneWikii | CRX_(gene) |
GenomeRNAii | 1406 |
Pharosi | O43186, Tbio |
PROi | PR:O43186 |
RNActi | O43186, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105392, Expressed in pigmented layer of retina and 37 other tissues |
ExpressionAtlasi | O43186, baseline and differential |
Genevisiblei | O43186, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR013851, Otx_TF_C |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03529, TF_Otx, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CRX_HUMAN | |
Accessioni | O43186Primary (citable) accession number: O43186 Secondary accession number(s): Q0QD45 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations