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Title: Pitx1  
Author: World Heritage Encyclopedia
Language: English
Subject: Homeobox, Transcription factors, NeuroD, EMX homeogene, Engrailed (gene)
Collection: Transcription Factors
Publisher: World Heritage Encyclopedia


Paired-like homeodomain 1

PDB rendering based on 1yz8.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols  ; BFT; CCF; LBNBG; POTX; PTX1
External IDs GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

paired-like homeodomain 1 is a

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

External links

  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5.". Nature 431 (7006): 268–74.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Qi DL, Ohhira T, Fujisaki C, Inoue T, Ohta T, Osaki M, Ohshiro E, Seko T, Aoki S, Oshimura M, Kugoh H (Feb 7, 2011). "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Mol Cell Biol 31 (8): 1624–1636.  

Further reading

  1. ^ Crawford MJ, Lanctôt C, Tremblay JJ, et al. (1997). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mammalian Genome 8 (11): 841–5.  
  2. ^ Shang J, Li X, Ring HZ, Clayton DA, Francke U (February 1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics 40 (1): 108–13.  
  3. ^ a b "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1". 
  4. ^ Philippi A, Tores F, Carayol J, et al. (2007). "Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis". BMC Medical Genetics 8: 74.  
  5. ^ Klopocki, E; Kähler, C, Foulds, N, Shah, H, Joseph, B, Vogel, H, Lüttgen, S, Bald, R, Besoke, R, Held, K, Mundlos, S, Kurth, I (Jan 18, 2012). "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.". European journal of human genetics : EJHG 20 (6): 705–8.  
  6. ^ Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (July 1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development". Proceedings of the National Academy of Sciences of the United States of America 93 (15): 7706–10.  


PITX1 has been shown to interact with Pituitary-specific positive transcription factor 1.[6]


Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome

Mutations in this gene have been associated with autism[4] and polydactyly[5] in humans.

Clinical relevance


  • Clinical relevance 1
  • Interactions 2
  • References 3
  • Further reading 4
  • External links 5


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