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Paired-like homeodomain transcription factor 1

PDB rendering based on 1yz8.
Available structures
Symbols PITX1; PTX1; BFT; POTX
External IDs OMIM602149 MGI107374 HomoloGene20584 GeneCards: PITX1 Gene
RNA expression pattern
PBB GE PITX1 209587 at tn.png
PBB GE PITX1 208502 s at tn.png
More reference expression data
Species Human Mouse
Entrez 5307 18740
Ensembl ENSG00000069011 ENSMUSG00000021506
UniProt P78337 Q3UQH0
RefSeq (mRNA) NM_002653 XM_984816
RefSeq (protein) NP_002644 XP_989910
Location (UCSC) Chr 5:
134.39 - 134.4 Mb
Chr 13:
55.83 - 55.84 Mb
PubMed search [1] [2]

Pituitary homeobox 1 is a protein that in humans is encoded by the PITX1 gene.[1][2][3]

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. According to an October 2008 press release by the Washington University School of Medicine, the gene is the first gene thought to be involved with clubfoot. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin [3] and it could be associated with autism[4]



PITX1 has been shown to interact with Pituitary-specific positive transcription factor 1.[5]


  1. ^ Crawford MJ, Lanctot C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J (Jan 1998). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mamm Genome 8 (11): 841–5. PMID 9337397.  
  2. ^ Shang J, Li X, Ring HZ, Clayton DA, Francke U (Jun 1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics 40 (1): 108–13. doi:10.1006/geno.1996.4558. PMID 9070926.  
  3. ^ a b "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".  
  4. ^ Philippi, Anne; Tores, Frédéric; Carayol, Jérome; Rousseau, Francis (2007), [ "Association of autism with polymorphisms in the paired-like homeodomain t ranscription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis."], BMC Med. Genet. 8: 741471–2350–8-74, doi:10.1186/1471-2350-8-7418053270, PMID :18053270,  
  5. ^ Szeto, D P; Ryan A K, O'Connell S M, Rosenfeld M G (Jul. 1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 93 (15): 7706–10. ISSN 0027-8424. PMID 8755540.  

Further reading

  • Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development.". Proc. Natl. Acad. Sci. U.S.A. 93 (15): 7706–10. doi:10.1073/pnas.93.15.7706. PMID 8755540.  
  • Shang J, Luo Y, Clayton DA (1997). "Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb.". Dev. Dyn. 209 (2): 242–53. doi:10.1002/(SICI)1097-0177(199706)209:2<242::AID-AJA10>3.0.CO;2-0. PMID 9186059.  
  • Poulin G, Turgeon B, Drouin J (1997). "NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene.". Mol. Cell. Biol. 17 (11): 6673–82. PMID 9343431.  
  • Tremblay JJ, Drouin J (1999). "Egr-1 is a downstream effector of GnRH and synergizes by direct interaction with Ptx1 and SF-1 to enhance luteinizing hormone beta gene transcription.". Mol. Cell. Biol. 19 (4): 2567–76. PMID 10082522.  
  • Tremblay JJ, Marcil A, Gauthier Y, Drouin J (1999). "Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain.". EMBO J. 18 (12): 3431–41. doi:10.1093/emboj/18.12.3431. PMID 10369682.  
  • Pellegrini-Bouiller I, Manrique C, Gunz G, et al. (1999). "Expression of the members of the Ptx family of transcription factors in human pituitary adenomas.". J. Clin. Endocrinol. Metab. 84 (6): 2212–20. doi:10.1210/jc.84.6.2212. PMID 10372733.  
  • Tahara S, Kurotani R, Sanno N, et al. (2001). "Expression of pituitary homeo box 1 (Ptx1) in human non-neoplastic pituitaries and pituitary adenomas.". Mod. Pathol. 13 (10): 1097–108. doi:10.1038/modpathol.3880204. PMID 11048804.  
  • Quentien MH, Manfroid I, Moncet D, et al. (2003). "Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter.". J. Biol. Chem. 277 (46): 44408–16. doi:10.1074/jbc.M207824200. PMID 12223489.  
  • 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.  
  • Ghosh AK, Majumder M, Steele R, et al. (2003). "Modulation of interferon expression by hepatitis C virus NS5A protein and human homeodomain protein PTX1.". Virology 306 (1): 51–9. doi:10.1016/S0042-6822(02)00029-6. PMID 12620797.  
  • Hiroi N, Kino T, Bassett M, et al. (2004). "Pituitary homeobox factor 1, a novel transcription factor in the adrenal regulating steroid 11beta-hydroxylase.". Horm. Metab. Res. 35 (5): 273–8. doi:10.1055/s-2003-41301. PMID 12915995.  
  • Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5.". Nature 431 (7006): 268–74. doi:10.1038/nature02919. PMID 15372022.  
  • 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.  
  • Kolfschoten IG, van Leeuwen B, Berns K, et al. (2005). "A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity.". Cell 121 (6): 849–58. doi:10.1016/j.cell.2005.04.017. PMID 15960973.  
  • 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.  
  • Lord RV, Brabender J, Wickramasinghe K, et al. (2006). "Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma.". Surgery 138 (5): 924–31. doi:10.1016/j.surg.2005.05.007. PMID 16291394.  
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.  
  • Picard C, Azeddine B, Moldovan F, et al. (2007). "New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis.". Clin. Orthop. Relat. Res. 462: 59–66. doi:10.1097/BLO.0b013e3180d09d9c. PMID 17549029.  

External links

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



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