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
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000115507 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000005917 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: OTX1 orthodenticle homeobox 1".
7. Shubin, Neil "Your Inner Fish" 2009

Further reading

• Simeone A, Acampora D, Mallamaci A, Stornaiuolo A, D'Apice MR, Nigro V, Boncinelli E (July 1993). "A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo". The EMBO Journal. 12 (7): 2735–47. doi:10.1002/j.1460-2075.1993.tb05935.x. PMC 413524. PMID 8101484.
• Acampora D, Mazan S, Avantaggiato V, Barone P, Tuorto F, Lallemand Y, Brûlet P, Simeone A (October 1996). "Epilepsy and brain abnormalities in mice lacking the Otx1 gene". Nature Genetics. 14 (2): 218–22. doi:10.1038/ng1096-218. PMID 8841200. S2CID 32251856.
• Nagao T, Leuzinger S, Acampora D, Simeone A, Finkelstein R, Reichert H, Furukubo-Tokunaga K (March 1998). "Developmental rescue of Drosophila cephalic defects by the human Otx genes". Proceedings of the National Academy of Sciences of the United States of America. 95 (7): 3737–42. Bibcode:1998PNAS...95.3737N. doi:10.1073/pnas.95.7.3737. PMC 19906. PMID 9520436.
• Weimann JM, Zhang YA, Levin ME, Devine WP, Brûlet P, McConnell SK (December 1999). "Cortical neurons require Otx1 for the refinement of exuberant axonal projections to subcortical targets". Neuron. 24 (4): 819–31. doi:10.1016/S0896-6273(00)81030-2. PMID 10624946. S2CID 407402.
• Francks C, Fisher SE, Olson RK, Pennington BF, Smith SD, DeFries JC, Monaco AP (March 2002). "Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1". Psychiatric Genetics. 12 (1): 35–41. doi:10.1097/00041444-200203000-00005. hdl:11858/00-001M-0000-0012-C9C5-5. PMID 11901358. S2CID 15050388.
• Puelles E, Annino A, Tuorto F, Usiello A, Acampora D, Czerny T, Brodski C, Ang SL, Wurst W, Simeone A (May 2004). "Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain". Development. 131 (9): 2037–48. doi:10.1242/dev.01107. PMID 15105370.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

External links

• OTX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.