OTX1

Orthodenticle homeobox 1
Identifiers
Symbols	OTX1; FLJ38361; MGC15736
External IDs	OMIM: 600036 MGI: 97450 HomoloGene: 7875 GeneCards: OTX1 Gene
Gene Ontology Molecular function • sequence-specific DNA binding transcription factor activity • protein binding • sequence-specific DNA binding Cellular component • nucleus Biological process • transcription, DNA-dependent • regulation of transcription, DNA-dependent • regulation of transcription from RNA polymerase II promoter • multicellular organismal development • anterior/posterior pattern formation • forebrain development • midbrain development • inner ear morphogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5013	18423
Ensembl	ENSG00000115507	ENSMUSG00000005917
UniProt	P32242	Q3TYJ4
RefSeq (mRNA)	NM_001199770.1	NM_011023.3
RefSeq (protein)	NP_001186699.1	NP_035153.1
Location (UCSC)	Chr 2: 63.28 – 63.28 Mb	Chr 11: 21.89 – 21.9 Mb
PubMed search	[1]	[2]

Homeobox protein OTX1 is a protein that in humans is encoded by the OTX1 gene.^[1][2]

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.^[3] A similar protein in mice is required for proper brain and sensory organ development and can cause epilepsy.^[2]

References

1. ^ Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E (Dec 1994). "Chromosome locations of human EMX and OTX genes". Genomics 22 (1): 41–5. doi:10.1006/geno.1994.1343. PMID 7959790. 
2. ^ ^{a b} "Entrez Gene: OTX1 orthodenticle homeobox 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5013. 
3. ^ Shubin, Neil "Your Inner Fish" 2009

Further reading

• Simeone A, Acampora D, Mallamaci A et al. (1993). "A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo". EMBO J. 12 (7): 2735–47. PMC 413524. PMID 8101484. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=413524. 
• Acampora D, Mazan S, Avantaggiato V et al. (1996). "Epilepsy and brain abnormalities in mice lacking the Otx1 gene". Nat. Genet. 14 (2): 218–22. doi:10.1038/ng1096-218. PMID 8841200. 
• Nagao T, Leuzinger S, Acampora D et al. (1998). "Developmental rescue of Drosophila cephalic defects by the human Otx genes". Proc. Natl. Acad. Sci. U.S.A. 95 (7): 3737–42. doi:10.1073/pnas.95.7.3737. PMC 19906. PMID 9520436. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=19906. 
• Weimann JM, Zhang YA, Levin ME et al. (2000). "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. 
• Francks C, Fisher SE, Olson RK et al. (2002). "Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1". Psychiatr. Genet. 12 (1): 35–41. doi:10.1097/00041444-200203000-00005. PMID 11901358. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Puelles E, Annino A, Tuorto F et al. (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. 
• Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Hillier LW, Graves TA, Fulton RS et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621. 
• Rual JF, Venkatesan K, Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 

External links

• MeSH OTX1+protein,+human

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