PITX3

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.[5][6]

PITX3
Identifiers
Aliases	PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3, ASGD1
External IDs	OMIM: 602669 MGI: 1100498 HomoloGene: 3689 GeneCards: PITX3
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q24.32 Start 102,230,186 bp[1] End 102,241,512 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 C3|19 38.75 cM Start 46,135,685 bp[2] End 46,148,326 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • DNA binding • sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • RNA polymerase II transcription factor binding Cellular component • cell nucleus • neuronal cell body Biological process • animal organ morphogenesis • positive regulation of transcription, DNA-templated • multicellular organism development • dopaminergic neuron differentiation • regulation of gene expression • neuron development • lens development in camera-type eye • regulation of transcription, DNA-templated • lens fiber cell differentiation • lens morphogenesis in camera-type eye • transcription from RNA polymerase II promoter • locomotory behavior • midbrain development • positive regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • aging • negative regulation of gliogenesis • response to immobilization stress • response to cocaine • response to morphine • positive regulation of neuron apoptotic process • negative regulation of neurogenesis • response to methamphetamine hydrochloride • positive regulation of cell proliferation in midbrain • cellular response to glial cell derived neurotrophic factor • anatomical structure morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5309	18742
Ensembl	ENSG00000107859	ENSMUSG00000025229
UniProt	O75364	O35160
RefSeq (mRNA)	NM_005029	NM_008852
RefSeq (protein)	NP_005020	NP_032878
Location (UCSC)	Chr 10: 102.23 – 102.24 Mb	Chr 19: 46.14 – 46.15 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/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 act as transcription factors. This protein is involved in lens formation during eye development,[6] and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.[7]

Clinical significance

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000107859 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025229 - 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. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC (June 1998). "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD". Nature Genetics. 19 (2): 167–70. doi:10.1038/527. PMID 9620774.
6. "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3".
7. Smidt MP, Smits SM, Bouwmeester H, Hamers FP, van der Linden AJ, Hellemons AJ, Graw J, Burbach JP (March 2004). "Early developmental failure of substantia nigra dopamine neurons in mice lacking the homeodomain gene Pitx3". Development. 131 (5): 1145–55. doi:10.1242/dev.01022. PMID 14973278.

Further reading

• Smits SM, Smidt MP (2006). "The role of Pitx3 in survival of midbrain dopaminergic neurons". Journal of Neural Transmission. Supplementum. Journal of Neural Transmission. Supplementa. 70 (70): 57–60. doi:10.1007/978-3-211-45295-0_10. ISBN 978-3-211-28927-3. PMID 17017509.
• Hittner HM, Kretzer FL, Antoszyk JH, Ferrell RE, Mehta RS (January 1982). "Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations". American Journal of Ophthalmology. 93 (1): 57–70. doi:10.1016/0002-9394(82)90700-0. PMID 6801987.
• Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS (August 2004). "Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)". Journal of Medical Genetics. 41 (8): e109. doi:10.1136/jmg.2004.020289. PMC 1735853. PMID 15286169.
• Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O (September 2005). "Posterior polar cataract: genetic analysis of a large family". Ophthalmic Genetics. 26 (3): 125–30. doi:10.1080/13816810500229124. PMID 16272057.
• Martinat C, Bacci JJ, Leete T, Kim J, Vanti WB, Newman AH, Cha JH, Gether U, Wang H, Abeliovich A (February 2006). "Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype". Proceedings of the National Academy of Sciences of the United States of America. 103 (8): 2874–9. doi:10.1073/pnas.0511153103. PMC 1413837. PMID 16477036.
• Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI (April 2006). "Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities". Investigative Ophthalmology & Visual Science. 47 (4): 1274–80. doi:10.1167/iovs.05-1095. PMID 16565358.
• Burdon KP, McKay JD, Wirth MG, Russell-Eggit IM, Bhatti S, Ruddle JB, Dimasi D, Mackey DA, Craig JE (2006). "The PITX3 gene in posterior polar congenital cataract in Australia". Molecular Vision. 12: 367–71. PMID 16636655.
• Sakazume S, Sorokina E, Iwamoto Y, Semina EV (2007). "Functional analysis of human mutations in homeodomain transcription factor PITX3". BMC Molecular Biology. 8: 84. doi:10.1186/1471-2199-8-84. PMC 2093940. PMID 17888164.

External links

• PITX3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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