Pitx3 paired-like homeodomain transcription factor 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pitx3provided by MGI
Official Full Name: paired-like homeodomain transcription factor 3provided by MGI
Primary source: MGI:MGI:1100498
See related: Ensembl:ENSMUSG00000025229 AllianceGenome:MGI:1100498
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ak; Ptx3; aphakia
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in dopaminergic neuron differentiation; lens development in camera-type eye; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within locomotory behavior; nervous system development; and regulation of gene expression. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and musculoskeletal system. Used to study Parkinson's disease and anterior segment dysgenesis. Human ortholog(s) of this gene implicated in anterior segment dysgenesis; anterior segment dysgenesis 1; cataract; cataract 11 multiple types; and cataract 9 multiple types. Orthologous to human PITX3 (paired like homeodomain 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 3.9), mammary gland adult (RPKM 1.8) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.75 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (46123720..46136764, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (46135281..46148325, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Crucial Roles of Pitx3 in Midbrain Dopaminergic Neuron Development and Parkinson's Disease-Associated Neurodegeneration.
Title: The Crucial Roles of Pitx3 in Midbrain Dopaminergic Neuron Development and Parkinson's Disease-Associated Neurodegeneration.
Activation of CB2R with AM1241 ameliorates neurodegeneration via the Xist/miR-133b-3p/Pitx3 axis.
Title: Activation of CB2R with AM1241 ameliorates neurodegeneration via the Xist/miR-133b-3p/Pitx3 axis.
Hypomorphic Expression of Pitx3 Disrupts Circadian Clocks and Prevents Metabolic Entrainment of Energy Expenditure.
Title: Hypomorphic Expression of Pitx3 Disrupts Circadian Clocks and Prevents Metabolic Entrainment of Energy Expenditure.
Using Pitx2/3 single and double mutant mice that provide genetic models of deregulated redox states, we demonstrate that moderate overproduction of ROS results in premature differentiation of satellite cells while high levels lead to their senescence and regenerative failure
Title: The role of Pitx2 and Pitx3 in muscle stem cells gives new insights into P38α MAP kinase and redox regulation of muscle regeneration.
that Pitx3 is co-recruited to regions that foster the formation of GATA-bHLH-BRN complexes, which usually involve Lmo co-regulatory proteins
Title: Specificity of Pitx3-Dependent Gene Regulatory Networks in Subsets of Midbrain Dopamine Neurons.
in absence of En1 and Pitx3, only a limited number of Mesodiencephalic dopaminergic neurons are present in mouse embryo.
Title: Pitx3 and En1 determine the size and molecular programming of the dopaminergic neuronal pool.
Pitx3 is specifically required for DA-related function and, if impaired, Pitx3 could contribute during the pathogenesis of Parkinson's disease.
Title: Pitx3 deficiency produces decreased dopamine signaling and induces motor deficits in Pitx3(-/-) mice.
the sonic hedgehog signaling pathway is both necessary and sufficient for the induction of ectopic PITX3 expression in chick mesencephalon downstream of WNT9A-induced LMX1a transcription.
Title: Differences in the spatiotemporal expression and epistatic gene regulation of the mesodiencephalic dopaminergic precursor marker PITX3 during chicken and mouse development.
microphthalmos/aphakia inPITX3 nonsense mutant is caused by the expression of truncated PITX3, resulting in the abnormal expression of downstream targets and lens fiber proteins.
Title: Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.
Pitx3 binds to an evolutionary conserved bicoid-binding site on the 5'-upstream region of Foxe3. Pitx3 binding to 5'-upstream region of Foxe3 increased transcriptional activity significantly in a cell-based reporter assay.
Title: Pitx3 directly regulates Foxe3 during early lens development.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (3) 1 citation
Targeted (9) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pitx3 (e-PCR), detects polymorphism
- UniSTS:226062

Pitx3 (e-PCR), detects polymorphism
- UniSTS:226063

Pitx3 (e-PCR), detects polymorphism
- UniSTS:226064

RH142219 (e-PCR)
- UniSTS:231469

Pitx3 (e-PCR), detects polymorphism
- UniSTS:144186

UniSTS:144187 (e-PCR)
- UniSTS:144187

Pitx3 (e-PCR), detects polymorphism
- UniSTS:144187

UniSTS:256827 (e-PCR)
- UniSTS:256827

Pitx3 (e-PCR), detects polymorphism
- UniSTS:256827

Pitx3 (e-PCR), detects polymorphism
- UniSTS:256828

AF005772 (e-PCR)
- UniSTS:160847

NoName (e-PCR)
- UniSTS:492888

D1Bda64 (e-PCR)
- UniSTS:239817

Pitx3 (e-PCR), detects polymorphism
- UniSTS:547287

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in dopaminergic neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
involved_in lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens fiber cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within midbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in midbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gliogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neurogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell proliferation in midbrain	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pituitary homeobox 3

Names: homeobox protein PITX3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008852.4 → NP_032878.1 pituitary homeobox 3

See identical proteins and their annotated locations for NP_032878.1

Status: VALIDATED

Source sequence(s)

AC140233

Consensus CDS

CCDS29872.1

UniProtKB/Swiss-Prot

O35160, Q0VB03

Related

ENSMUSP00000026259.10, ENSMUST00000026259.16

Conserved Domains (3) summary

PTZ00395
Location:142 → 236

PTZ00395; Sec24-related protein; Provisional

pfam00046
Location:66 → 119

Homeobox; Homeobox domain

pfam03826
Location:258 → 275

OAR; OAR domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

46123720..46136764 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526764.4 → XP_006526827.1 pituitary homeobox 3 isoform X1

Conserved Domains (3) summary

PTZ00395
Location:228 → 322

PTZ00395; Sec24-related protein; Provisional

pfam00046
Location:152 → 205

Homeobox; Homeobox domain

pfam03826
Location:344 → 361

OAR; OAR domain