Pitx3 - paired-like homeodomain transcription factor 3 Gene

Mus musculus

Also known as ak; Ptx3; aphakia

Gene ID: 18742 | Gene type: protein coding

About Pitx3

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]

Pitx3 Products(1)

mRNA	Protein	Name
NM_008852.4	NP_032878.1	pituitary homeobox 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11299318	MGI
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	11299318	MGI
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11299318	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	19144721	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in dopaminergic neuron differentiation	IDA IDA: Inferred from direct assay	19144721	MGI
involved in dopaminergic neuron differentiation	IMP IMP: Inferred from mutant phenotype	15950611	MGI
involved in lens development in camera-type eye	IMP IMP: Inferred from mutant phenotype	19007884	MGI
involved in lens fiber cell differentiation	IMP IMP: Inferred from mutant phenotype	19007884	MGI
involved in lens morphogenesis in camera-type eye	IMP IMP: Inferred from mutant phenotype	19334279	MGI
acts upstream of or within locomotory behavior	IMP IMP: Inferred from mutant phenotype	17919745	MGI
acts upstream of or within midbrain development	IMP IMP: Inferred from mutant phenotype	14973278	MGI
involved in midbrain development	IMP IMP: Inferred from mutant phenotype	15950611	MGI
acts upstream of or within neuron development	IMP IMP: Inferred from mutant phenotype	14973278	MGI
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19144721	MGI
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11299318	MGI
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	11299318	MGI
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	17184956	MGI
acts upstream of or within regulation of gene expression	IDA IDA: Inferred from direct assay	17761882	MGI
acts upstream of or within regulation of gene expression	IGI IGI: Inferred from genetic interaction	23863478	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	19515692	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	17184956	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

pituitary homeobox 3

homeobox protein PITX3

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10583	PITX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pitx3	NCBI	NCBI:5309

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