| Gene Symbol |
PITX3
|
| Entrez Gene |
5309
|
| Alt Symbol |
ASMD, ASOD, CTPP4, CTRCT11, PTX3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
paired-like homeodomain 3
|
| Other Description |
homeobox protein PITX3|pituitary homeobox 3
|
| Swissprots |
Q5VZL2 O75364
|
| Accessions |
AJF45881 AJF45882 AJF45883 AJF45884 AJF45885 AJF45886 AJF45887 AJF45888 AJF45889 AJF45890 AJF45891 AJF45892 AJF45893 AJF45894 AJF45895 AJF45896 AJF45897 AJF45898 AJP06693 AJP06694 AJP06695 AJP06696 AJP06697 AJP06698 AJP06699 AJP06700 EAW49709 EAW49710 O75364 AF041339 AAC24502 BC011642 AAH11642 DQ891945 ABM82871 DQ895131 ABM86057 DQ895132 ABM86058 XM_011539865 XP_011538167 NM_005029 NP_005020
|
| 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 len
|
| Subcellular Location |
Nucleus {ECO:0000255|PROSITE- ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138}.
|
| Tissue Specificity |
Highly expressed in developing eye lens.
|