InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAX

Summary

InnateDB Protein

IDBP-4053.5

Last Modified

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

Gene Symbol

RAX

Protein Name

retina and anterior neural fold homeobox

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000334813

InnateDB Gene

IDBG-4049 (RAX)

Protein Structure

UniProt Annotation

Function

Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter.

Subcellular Localization

Nucleus.

Disease Associations

Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269PubMed:14662654}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the developing eye and weakly expressed in the adult retina.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

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

Biological Process

GO:0006351	transcription, DNA-templated
GO:0007389	pattern specification process
GO:0007420	brain development
GO:0007601	visual perception
GO:0021854	hypothalamus development
GO:0043010	camera-type eye development
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0060173	limb development