OTX1

Homeobox protein OTX1 is a protein that in humans is encoded by the OTX1 gene.^[5][6]

OTX1
Identifiers
Aliases	OTX1, orthodenticle homeobox 1
External IDs	OMIM: 600036; MGI: 97450; HomoloGene: 7875; GeneCards: OTX1; OMA:OTX1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p15 Start 63,050,057 bp[1] End 63,057,836 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A3.2|11 14.1 cM Start 21,944,764 bp[2] End 21,952,897 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory zone of nasal mucosa ventricular zone ganglionic eminence minor salivary glands skin of leg skin of abdomen testicle nasal epithelium amygdala cingulate gyrus Top expressed in nasolacrimal duct lip ventricular zone lacrimal gland optic nerve ciliary body iris zygote thyroglossal duct vestibular membrane of cochlear duct More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process diencephalon morphogenesis regulation of transcription by RNA polymerase II multicellular organism development metencephalon development forebrain development regulation of transcription, DNA-templated inner ear morphogenesis midbrain development anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5013 18423 Ensembl ENSG00000115507 ENSMUSG00000005917 UniProt P32242 P80205 RefSeq (mRNA) NM_001199770 NM_014562 NM_011023 RefSeq (protein) NP_001186699 NP_055377 NP_035153 Location (UCSC) Chr 2: 63.05 – 63.06 Mb Chr 11: 21.94 – 21.95 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. The Otx gene is active in the region of the first gill arch, which is related to the upper and lower jaw and two of the bones of the ear.^[7] A similar protein in mice is required for proper brain and sensory organ development and can cause epilepsy.^[6]