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 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel Information
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)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI

-  Comments and Description Text from UniProtKB
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.
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.

-  Primer design for this transcript

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-  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
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.30138-0.415 Picture PostScript Text
3' UTR -130.30333-0.391 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR016233 - Homeobox_Pitx/unc30
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR003654 - OAR_dom

Pfam Domains:
PF00046 - Homeobox domain
PF03826 - OAR domain

SCOP Domains:
46689 - Homeodomain-like
88659 - Sigma3 and sigma4 domains of RNA polymerase sigma factors

ModBase Predicted Comparative 3D Structure on O35160
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
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:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007568 aging
GO:0007626 locomotory behavior
GO:0010468 regulation of gene expression
GO:0014014 negative regulation of gliogenesis
GO:0030901 midbrain development
GO:0035902 response to immobilization stress
GO:0042220 response to cocaine
GO:0043278 response to morphine
GO:0043525 positive regulation of neuron apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048666 neuron development
GO:0050768 negative regulation of neurogenesis
GO:0070306 lens fiber cell differentiation
GO:0071542 dopaminergic neuron differentiation
GO:1904313 response to methamphetamine hydrochloride
GO:1904935 positive regulation of cell proliferation in midbrain
GO:1990792 cellular response to glial cell derived neurotrophic factor

Cellular Component:
GO:0005634 nucleus
GO:0043025 neuronal cell body

-  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
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.