Entity Details

Primary name RX_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y2V3
EntryNameRX_HUMAN
FullNameRetinal homeobox protein Rx
TaxID9606
Evidenceevidence at protein level
Length346
SequenceStatuscomplete
DateCreated2001-09-26
DateModified2021-06-02

Ontological Relatives

GenesRAX

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007389 pattern specification process
GO:0007601 visual perception
GO:0021854 hypothalamus development
GO:0043010 camera-type eye development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0060173 limb development
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR003654 OAR domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR043562 Retinal homeobox protein RAX/RAX2FamilyFamily

Diseases

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Disease IDSourceNameDescription
611038 OMIMMicrophthalmia, isolated, 3 (MCOP3)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
RX_HUMANPAX6_HUMANBioGRID, HPRD11069920 details