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Protein

Cone-rod homeobox protein

Gene

CRX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
DNA bindingi39 – 98HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SIGNORiO43186

Names & Taxonomyi

Protein namesi
Recommended name:
Cone-rod homeobox protein
Gene namesi
Name:CRX
Synonyms:CORD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105392.15
HGNCiHGNC:2383 CRX
MIMi602225 gene
neXtProtiNX_O43186

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

Pathology & 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.
See also OMIM:613829
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi1406
GeneReviewsiCRX
MalaCardsiCRX
MIMi120970 phenotype
268000 phenotype
613829 phenotype
OpenTargetsiENSG00000105392
Orphaneti1872 Cone rod dystrophy
65 Leber congenital amaurosis
791 Retinitis pigmentosa
PharmGKBiPA26903

Polymorphism and mutation databases

BioMutaiCRX

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488621 – 299Cone-rod homeobox proteinAdd BLAST299

Proteomic databases

PaxDbiO43186
PeptideAtlasiO43186
PRIDEiO43186
ProteomicsDBi48803

PTM databases

iPTMnetiO43186
PhosphoSitePlusiO43186

Expressioni

Tissue specificityi

Retina.

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

Organism-specific databases

HPAiHPA036762
HPA036763

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliO43186
SMRiO43186
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG2251 Eukaryota
ENOG4111XIJ LUCA
GeneTreeiENSGT00920000148948
HOGENOMiHOG000082677
HOVERGENiHBG004028
InParanoidiO43186
KOiK09337
OMAiSDVCPDP
OrthoDBiEOG091G0K9K
PhylomeDBiO43186
TreeFamiTF351179

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 Homeobox, 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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow 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
Checksum:i46747C09277A0864
GO

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:
A0A087WTS9A0A087WTS9_HUMAN
Cone-rod homeobox protein
CRX
41Annotation score:

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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar 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
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

DNASUi1406
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1406
DisGeNETi1406
EuPathDBiHostDB:ENSG00000105392.15
GeneCardsiCRX
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2251 Eukaryota
ENOG4111XIJ LUCA
GeneTreeiENSGT00920000148948
HOGENOMiHOG000082677
HOVERGENiHBG004028
InParanoidiO43186
KOiK09337
OMAiSDVCPDP
OrthoDBiEOG091G0K9K
PhylomeDBiO43186
TreeFamiTF351179

Enzyme and pathway databases

SIGNORiO43186

Miscellaneous databases

ChiTaRSiCRX human
GeneWikiiCRX_(gene)
GenomeRNAii1406
PROiPR:O43186
SOURCEiSearch...

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 Homeobox, 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
ProtoNetiSearch...

Entry informationi

Entry nameiCRX_HUMAN
AccessioniPrimary (citable) accession number: O43186
Secondary accession number(s): Q0QD45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: September 12, 2018
This is version 181 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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