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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-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

  • animal organ morphogenesis Source: ProtInc
  • circadian rhythm Source: Ensembl
  • positive regulation of photoreceptor cell differentiation Source: Ensembl
  • positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: ProtInc

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

HGNCiHGNC:2383. CRX.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

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:rs863224863Ensembl.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:rs104894673Ensembl.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:rs104894672Ensembl.1
Natural variantiVAR_00375180E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs28939682Ensembl.1
Natural variantiVAR_007949242V → M in CORD2. 1 PublicationCorresponds to variant dbSNP:rs61748459Ensembl.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:rs61748436Ensembl.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.
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.

PTM databases

iPTMnetiO43186.
PhosphoSitePlusiO43186.

Expressioni

Tissue specificityi

Retina.

Gene expression databases

BgeeiENSG00000105392.
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

Show more details

GO - Molecular functioni

  • leucine zipper domain binding Source: UniProtKB
  • nuclear hormone receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107796. 43 interactors.
IntActiO43186. 99 interactors.
MINTiMINT-1442706.
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.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000082677.
HOVERGENiHBG004028.
InParanoidiO43186.
KOiK09337.
OMAiSDVCPDP.
OrthoDBiEOG091G0K9K.
PhylomeDBiO43186.
TreeFamiTF351179.

Family and domain databases

InterProiView protein in InterPro
IPR032966. CRX.
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR013851. Otx_TF_C.
PANTHERiPTHR24329:SF394. PTHR24329:SF394. 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.

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07695610H → D1 PublicationCorresponds to variant dbSNP:rs139340178Ensembl.1
Natural variantiVAR_00794641R → Q in RP. 3 PublicationsCorresponds to variant dbSNP:rs61748436Ensembl.1
Natural variantiVAR_00375041R → W in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894672Ensembl.1
Natural variantiVAR_06718942E → K in LCA7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224863Ensembl.1
Natural variantiVAR_07695766V → I1 PublicationCorresponds to variant dbSNP:rs61748438Ensembl.1
Natural variantiVAR_00375180E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs28939682Ensembl.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:rs104894673Ensembl.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:rs61748441Ensembl.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:rs61748445Ensembl.1
Natural variantiVAR_007949242V → M in CORD2. 1 PublicationCorresponds to variant dbSNP:rs61748459Ensembl.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

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. 43 interactors.
IntActiO43186. 99 interactors.
MINTiMINT-1442706.
STRINGi9606.ENSP00000221996.

PTM databases

iPTMnetiO43186.
PhosphoSitePlusiO43186.

Polymorphism and mutation databases

BioMutaiCRX.

Proteomic databases

PaxDbiO43186.
PeptideAtlasiO43186.
PRIDEiO43186.

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.
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.
GeneTreeiENSGT00820000126963.
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.
CleanExiHS_CRX.
ExpressionAtlasiO43186. baseline and differential.
GenevisibleiO43186. HS.

Family and domain databases

InterProiView protein in InterPro
IPR032966. CRX.
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR013851. Otx_TF_C.
PANTHERiPTHR24329:SF394. PTHR24329:SF394. 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: May 10, 2017
This is version 168 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

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.