PITX1

Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7]

PITX1
Identifiers
AliasesPITX1, BFT, CCF, LBNBG, POTX, PTX1, paired like homeodomain 1
External IDsOMIM: 602149 MGI: 107374 HomoloGene: 20584 GeneCards: PITX1
Orthologs
SpeciesHumanMouse
Entrez

5307

18740

Ensembl

ENSG00000069011

ENSMUSG00000021506

UniProt

P78337

P70314

RefSeq (mRNA)

NM_002653

NM_011097

RefSeq (protein)

NP_002644

NP_035227

Location (UCSC)Chr 5: 135.03 – 135.03 MbChr 13: 55.97 – 55.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. 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.[7]

Clinical relevance

Mutations in this gene have been associated with autism,[8] club foot[9] and polydactyly[10] in humans.

Genetic basis of pathologies

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.[11] In PITX1 Liebenberg is associated with a translocation or deletions, which cause insert promoter groups into the PITX1 locus.[11] A missense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot.[9]

Interactions

PITX1 has been shown to interact with pituitary-specific positive transcription factor 1.[12]

References

  1. GRCh38: Ensembl release 89: ENSG00000069011 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000021506 - 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. Crawford MJ, Lanctôt C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J (1997). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mammalian Genome. 8 (11): 841–5. CiteSeerX 10.1.1.326.9619. doi:10.1007/s003359900589. PMID 9337397. S2CID 8557603.
  6. 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. doi:10.1006/geno.1996.4558. PMID 9070926.
  7. "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".
  8. Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, et al. (December 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. doi:10.1186/1471-2350-8-74. PMC 2222245. PMID 18053270.
  9. Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, et al. (October 2011). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice". Human Molecular Genetics. 20 (20): 3943–52. doi:10.1093/hmg/ddr313. PMC 3177645. PMID 21775501.
  10. Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, et al. (June 2012). "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly". European Journal of Human Genetics. 20 (6): 705–8. doi:10.1038/ejhg.2011.264. PMC 3355260. PMID 22258522.
  11. Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, et al. (October 2012). "Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus". American Journal of Human Genetics. 91 (4): 629–35. doi:10.1016/j.ajhg.2012.08.014. PMC 3484647. PMID 23022097.
  12. 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. Bibcode:1996PNAS...93.7706S. doi:10.1073/pnas.93.15.7706. PMC 38811. PMID 8755540.

Further reading

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


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