Details for: CRX

Gene ID: 1406

Symbol: CRX

Ensembl ID: ENSG00000105392

Description: cone-rod homeobox

Associated with

  • Animal organ morphogenesis
    (GO:0009887)
  • Cell differentiation
    (GO:0030154)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity
    (GO:0001216)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Leucine zipper domain binding
    (GO:0043522)
  • Nervous system development
    (GO:0007399)
  • Nuclear receptor binding
    (GO:0016922)
  • Nucleus
    (GO:0005634)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Response to stimulus
    (GO:0050896)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulator complex
    (GO:0090575)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Visual perception
    (GO:0007601)

Other Information

Genular Protein ID: 2038688978

Symbol: CRX_HUMAN

Name: Cone-rod homeobox protein

UniProtKB Accession Codes:

O43186 Q0QD45

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9390563

Title: Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

PubMed ID: 9390563

DOI: 10.1016/s0092-8674(00)80440-7

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

PubMed ID: 10625658

Title: Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression.

PubMed ID: 10625658

DOI: 10.1074/jbc.275.2.1152

PubMed ID: 10887186

Title: The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

PubMed ID: 10887186

DOI: 10.1074/jbc.m003658200

PubMed ID: 15028672

Title: QRX, a novel homeobox gene, modulates photoreceptor gene expression.

PubMed ID: 15028672

DOI: 10.1093/hmg/ddh117

PubMed ID: 9427255

Title: Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

PubMed ID: 9427255

DOI: 10.1016/s0896-6273(00)80423-7

PubMed ID: 9792858

Title: A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PubMed ID: 9792858

DOI: 10.1086/302101

PubMed ID: 9931337

Title: Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

PubMed ID: 9931337

DOI: 10.1093/hmg/8.2.299

PubMed ID: 11139241

Title: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

PubMed ID: 11139241

DOI: 10.1002/1098-1004(2001)17:1<42::aid-humu5>3.0.co;2-k

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 18682808

Title: Molecular characterization of Leber congenital amaurosis in Koreans.

PubMed ID: 18682808

PubMed ID: 20513135

Title: Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

PubMed ID: 20513135

DOI: 10.1002/humu.21268

PubMed ID: 21602930

Title: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PubMed ID: 21602930

DOI: 10.1371/journal.pone.0019458

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 299
  • Mass: 32261
  • Checksum: 46747C09277A0864
  • Sequence:
    • MMAYMNPGPH YSVNALALSG PSVDLMHQAV PYPSAPRKQR RERTTFTRSQ LEELEALFAK 
TQYPDVYARE EVALKINLPE SRVQVWFKNR RAKCRQQRQQ QKQQQQPPGG QAKARPAKRK 
AGTSPRPSTD VCPDPLGISD SYSPPLPGPS GSPTTAVATV SIWSPASESP LPEAQRAGLV 
ASGPSLTSAP YAMTYAPASA FCSSPSAYGS PSSYFSGLDP YLSPMVPQLG GPALSPLSGP 
SVGPSLAQSP TSLSGQSYGA YSPVDSLEFK DPTGTWKFTY NPMDPLDYKD QSAWKFQIL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.