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Orthodenticle homeobox 1
Symbols OTX1; FLJ38361; MGC15736
External IDs OMIM600036 MGI97450 HomoloGene7875 GeneCards: OTX1 Gene
Species Human Mouse
Entrez 5013 18423
Ensembl ENSG00000115507 ENSMUSG00000005917
UniProt P32242 Q3TYJ4
RefSeq (mRNA) NM_014562 NM_011023
RefSeq (protein) NP_055377 NP_035153
Location (UCSC) Chr 2:
63.13 - 63.14 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. A similar protein in mice is required for proper brain and sensory organ development and can cause epilepsy.[2]


  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".  

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. PMID 8101484.  
  • 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. PMID 9520436.  
  • 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. PMID 12477932.  
  • 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. PMID 15489334.  
  • 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

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



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