PITX3

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.

PITX3
Identifiers
Aliases	PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3, ASGD1
External IDs	OMIM: 602669; MGI: 1100498; HomoloGene: 3689; GeneCards: PITX3; OMA:PITX3 - orthologs
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19 C3|19 38.75 cM Start 46,124,124 bp End 46,136,765 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle skeletal muscle tissue ventricle of the heart left ventricle Mesencephalon substantia nigra face sensory nervous system sensory organ kidney Top expressed in lens muscle of thigh embryo lip female urethra male urethra lens placode temporal muscle embryo internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus soma 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 by RNA polymerase II locomotory behavior midbrain development positive regulation of transcription by RNA polymerase II transcription, DNA-templated ageing 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 n/a ENSMUSG00000025229 UniProt O75364 O35160 RefSeq (mRNA) NM_005029 NM_008852 RefSeq (protein) NP_005020 NP_032878 Location (UCSC) n/a Chr 19: 46.12 – 46.14 Mb PubMed search
Wikidata
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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, and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.

Clinical significance

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

Further reading

• Smits SM, Smidt MP (2006). "The role of Pitx3 in survival of midbrain dopaminergic neurons". Parkinson's Disease and Related Disorders. Journal of Neural Transmission. Supplementa. Vol. 70. pp. 57–60. doi:10.1007/978-3-211-45295-0_10. ISBN 978-3-211-28927-3. PMID 17017509. {{cite book}}: |journal= ignored (help)
• 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. S2CID 9519631.
• 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. Bibcode:2006PNAS..103.2874M. 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 U.S. 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.