PITX1 Knowpia

PITX1
Identifiers
Aliases	PITX1, BFT, CCF, LBNBG, POTX, PTX1, paired like homeodomain 1
External IDs	OMIM: 602149 MGI: 107374 HomoloGene: 20584 GeneCards: PITX1
Gene location (Human)
Chr.	Chromosome 5 (human)
End	135,034,813 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	55,984,005 bp
RNA expression pattern
	Top expressed in
	pituitary gland; ; minor salivary glands; ; anterior pituitary; ; gums; ; gastric mucosa; ; body of tongue; ; oral cavity; ; vagina; ; thymus; ; superior surface of tongue;
	Top expressed in
	wall of esophagus; ; epithelium of esophagus; ; yolk sac; ; human mandible; ; submandibular gland; ; parotid gland; ; molar; ; belly cord; ; lip; ; pituitary gland;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; protein binding; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; transcription regulator complex; nucleolus; nucleus;
Biological process	skeletal system development; pituitary gland development; regulation of transcription, DNA-templated; anatomical structure morphogenesis; transcription by RNA polymerase II; hindlimb morphogenesis; transcription, DNA-templated; multicellular organism development; cartilage development; myoblast fate commitment; negative regulation of transcription, DNA-templated; branchiomeric skeletal muscle development; positive regulation of transcription by RNA polymerase II; embryonic hindlimb morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
	5307
	18740
	ENSG00000069011
	ENSMUSG00000021506
	P78337
	P70314
	NM_002653
	NM_011097
	NP_002644
	NP_035227
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.^[7]

Clinical relevance edit

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

Genetic basis of pathologies edit

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 edit

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

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000069011 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021506 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".
^ 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.
^ ^a ^b 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.
^ 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.
^ ^a ^b 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.
^ 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.

External links edit

- PITX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- http://omim.org/entry/602149 at OMIM, holds the most up to date information on PITX1.
- https://ghr.nlm.nih.gov/gene/PITX1 at the NIH, has a summary on the effects of PITX1 mutations.

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