OTX1 Knowpia

OTX1
Identifiers
Aliases	OTX1, orthodenticle homeobox 1
External IDs	OMIM: 600036 MGI: 97450 HomoloGene: 7875 GeneCards: OTX1
Gene location (Human)
Chr.	Chromosome 2 (human)
End	63,057,836 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	21,952,897 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; minor salivary gland; ; skin of abdomen; ; amygdala; ; cingulate gyrus; ; prefrontal cortex; ; Brodmann area 9; ; blood; ; putamen; ; substantia nigra;
	Top expressed in
	nasolacrimal duct; ; lip; ; lacrimal gland; ; optic nerve; ; ciliary body; ; iris; ; main bronchus; ; pharynx; ; conjunctiva; ; conjunctival fornix;
	More reference expression data
	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
	5013
	18423
	ENSG00000115507
	ENSMUSG00000005917
	P32242
	P80205
	NM_001199770; NM_014562
	NM_011023
	NP_001186699; NP_055377
	NP_035153
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function edit

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]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000115507 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005917 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E (July 1994). "Chromosome locations of human EMX and OTX genes". Genomics. 22 (1): 41–5. doi:10.1006/geno.1994.1343. PMID 7959790.
^ ^a ^b "Entrez Gene: OTX1 orthodenticle homeobox 1".
^ Shubin, Neil "Your Inner Fish" 2009