PITX1

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Paired-like homeodomain 1
Protein PITX1 PDB 1yz8.png
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:
135.03 – 135.03 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]

Function[edit]

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.[3]

Clinical relevance[edit]

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, Jenkins N, Gilbert D, Copeland N 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 (Feb 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, Rousseau F, Letexier M, Roschmann E 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 et al. (Jun 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. PMID 22258522. 
  6. ^ Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (Jul 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.