Pitx3
entrez
18742
canonical
uniprot
O35160
canonical
ensembl
ENSMUSG00000025229
resolver
ensp
ENSMUSP00000026259
resolver
enst
ENSMUST00000026259
resolver
genesymbol
Pitx3
resolver
uniprot
Q0VB03
resolver
uniprot_entry
PITX3_MOUSE
resolver
uniprot_sec
Q0VB03
resolver
amino_acid_sequence
MEFGLLGEAEARSPALSLSDAGTPHPPLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGGFAAPLGGLVPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGAPPGLAPAAVSSGAVSCPYASAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVPGPPPAANLSPCQYAVERPV
uniprot
proteins
disease_involvement
DISEASE: Note=Mutations in Pitx3 appear to be the cause of the aphakia (ak) phenotype, a recessive homozygous disease characterized by small eyes and closed eyelids. {ECO:0000269|PubMed:19334279}.
uniprot
proteins
function
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. {ECO:0000269|PubMed:15950611, ECO:0000269|PubMed:17184956, ECO:0000269|PubMed:19007884, ECO:0000269|PubMed:19144721, ECO:0000269|PubMed:19334279}.
uniprot
proteins
mass_dalton
31715
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15950611
uniprot
proteins
pubmed
17184956
uniprot
proteins
pubmed
19007884
uniprot
proteins
pubmed
19144721
uniprot
proteins
pubmed
19334279
uniprot
proteins
pubmed
9328475
uniprot
proteins
pubmed
9620774
uniprot
proteins
sequence_length
302
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138, ECO:0000269|PubMed:17184956}.
uniprot
proteins