InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRX

Summary

InnateDB Protein

IDBP-588427.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRX

Protein Name

cone-rod homeobox

Synonyms

CORD2; CRD; LCA7; OTX3;

Species

Homo sapiens

Ensembl Protein

ENSP00000445565

InnateDB Gene

IDBG-59844 (CRX)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:10625658}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Leber congenital amaurosis 7 (LCA7) [MIM:613829]: A 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. {ECO:0000269PubMed:20513135, ECO:0000269PubMed:9792858, ECO:0000269PubMed:9931337}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cone-rod dystrophy 2 (CORD2) [MIM:120970]: An 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. {ECO:0000269PubMed:9390563, ECO:0000269PubMed:9427255, ECO:0000269PubMed:9792858}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa (RP) [MIM:268000]: A 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. {ECO:0000269PubMed:9427255, ECO:0000269PubMed:9792858}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retina.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0035257	nuclear hormone receptor binding
GO:0043522	leucine zipper domain binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0007601	visual perception
GO:0009887	organ morphogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050896	response to stimulus