PITX1

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Paired-like homeodomain 1

PDB rendering based on 1yz8.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PITX1 ; BFT; CCF; LBNBG; POTX; PTX1
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
Orthologs
Species Human Mouse
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:
134.36 – 134.37 Mb
Chr 13:
55.83 – 55.84 Mb
PubMed search [1] [2]

paired-like homeodomain 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]

Clinical relevance

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

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome

Interactions[edit]

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

References[edit]

  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. doi:10.1007/s003359900589. PMID 9337397. 
  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. doi:10.1006/geno.1996.4558. PMID 9070926. 
  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. doi:10.1186/1471-2350-8-74. PMC 2222245. PMID 18053270. 
  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. doi:10.1038/ejhg.2011.264. PMID 22258522. 
  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. doi:10.1073/pnas.93.15.7706. PMC 38811. PMID 8755540. 

Further reading[edit]

External links[edit]

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