InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PITX3

Summary

InnateDB Protein

IDBP-596584.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PITX3

Protein Name

paired-like homeodomain 3

Synonyms

ASMD; ASOD; CTPP4; CTRCT11; PTX3;

Species

Homo sapiens

Ensembl Protein

ENSP00000439383

InnateDB Gene

IDBG-87840 (PITX3)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1- mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00138}.

Disease Associations

Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. {ECO:0000269PubMed:9620774}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cataract 11, multiple types (CTRCT11) [MIM:610623]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction. {ECO:0000269PubMed:15286169, ECO:0000269PubMed:9620774}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in developing eye lens.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0002088	lens development in camera-type eye
GO:0002089	lens morphogenesis in camera-type eye
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0009887	organ morphogenesis
GO:0030901	midbrain development
GO:0045893	positive regulation of transcription, DNA-templated
GO:0071542	dopaminergic neuron differentiation