Mouse Gene Pitx3 (ENSMUST00000026259.15) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus paired-like homeodomain transcription factor 3 (Pitx3), mRNA. (from RefSeq NM_008852)
Gencode Transcript: ENSMUST00000026259.15
Gencode Gene: ENSMUSG00000025229.15
Transcript (Including UTRs)
   Position: mm10 chr19:46,135,685-46,148,326 Size: 12,642 Total Exon Count: 4 Strand: -
Coding Region
   Position: mm10 chr19:46,136,018-46,137,482 Size: 1,465 Coding Exon Count: 3 

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Data last updated at UCSC: 2019-09-20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:46,135,685-46,148,326)mRNA (may differ from genome)Protein (302 aa)
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-  Comments and Description Text from UniProtKB
  ID: PITX3_MOUSE
DESCRIPTION: RecName: Full=Pituitary homeobox 3; AltName: Full=Homeobox protein PITX3; AltName: Full=Paired-like homeodomain transcription factor 3;
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.
SUBUNIT: Interacts with SFPQ.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highly expressed in developing eye lens. Expression is restricted to the substantia nigra and ventral tegmental area in the midbrain.
DEVELOPMENTAL STAGE: First visible in E10.5 embryos where expression is confined to the lens vesicles. Between E11.5 and E12.5, expressed in both the lens epithelium and differentiating primary fiber cells. In the late fetal stage after the lens is formed, primarily found in the lens epithelium and the lens equator region where lens epithelial cells exit from the cell cycle and differentiate into fiber cells (at protein level). First expressed in the eye at 10 dpc embryos. Throughout eye development, expressed in the lens placode and forming lens pit. From 12 dpc, also detected in the midbrain region, tongue, incisor primordia, condensing mesenchyme around the sternum and vertebrae and in the head muscles.
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.
DISRUPTION PHENOTYPE: Mice show loss of nascent substantia nigra dopaminergic neurons at the beginning of their final differentiation and a loss of tyrosine hydroxylase (TH) expression specifically in the substantia nigra neurons.
SIMILARITY: Belongs to the paired homeobox family. Bicoid subfamily.
SIMILARITY: Contains 1 homeobox DNA-binding domain.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  mRNA Secondary Structure of 3' and 5' UTRs
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+  Protein Domain and Structure Information
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
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+  Gene Ontology (GO) Annotations with Structured Vocabulary
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-  Descriptions from all associated GenBank mRNAs
  AF005772 - Mus musculus homeobox protein Pitx3 mRNA, complete cds.
BC120844 - Mus musculus paired-like homeodomain transcription factor 3, mRNA (cDNA clone MGC:156081 IMAGE:40129767), complete cds.
BC137810 - Mus musculus paired-like homeodomain transcription factor 3, mRNA (cDNA clone MGC:169434 IMAGE:8860829), complete cds.
AB221559 - Mus musculus cDNA pooled tissues:(tissue_type=brain,dev_stage=8-12 days neonate,strain=BALB/c),(tissue_type=testis,dev_stage=adult, strain=C57BL/6J), clone:V01X004O17.
AB971349 - Mus musculus molossinus Pitx3 mRNA for paired-like homeodomain transcription factor 3, partial cds, strain: KOR1.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_008852, O35160, PITX3_MOUSE, Q0VB03, uc008hsl.1, uc008hsl.2, uc008hsl.3
UCSC ID: uc008hsl.3
RefSeq Accession: NM_008852
Protein: O35160 (aka PITX3_MOUSE)
CCDS: CCDS29872.1

+  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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