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FLASH GENE
Symbol PITX3 contributors: mct - updated : 27-03-2019
HGNC name paired-like homeodomain 3
HGNC id 9006
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • POU specific and POU homeo domains (helix-turn-helix)
  • an OAR domain
    • HOMOLOGY
    interspecies ortholog to Pitx3, Mus musculus
    ortholog to Pitx3, Rattus norvegicus
    ortholog to pitx3, Danio rerio
    ortholog to PITX3, Pan troglodytes
    Homologene
    FAMILY
  • RIEG/PITX homeobox family
  • paired homeobox family
  • bicoid subfamily
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in lens formation during eye development
  • regulating gene expression and controlling cell differentiation
  • inducing the late maturation of midbrain dopamine neurons
  • transcription factor which has a key role in lens and anterior segment development
  • critical homeodomain transcription factor for the proper development and survival of mesodiencephalic dopaminergic (mdDA) neurons
  • critical mediator of GDNF-induced BDNF expression in nigrostriatal dopaminergic neurons
  • is critical for the survival of midbrain dopaminergic (mDA) neurons
  • transcription factor PITX3 is expressed selectively in midbrain dopaminergic neurons susceptible to neurodegenerative stress
  • key midbrain dopamine (mDA) regulators (NR4A2, PITX3, and LMX1A) play overlapping as well as distinct roles during neurogenesis and neurotransmitter phenotype determination of mDA neurons
  • is a bicoid-related homeodomain transcription factor critical for the development of the ocular lens, mesencephalic dopaminergic neurons and skeletal muscle
  • PITX2 and PITX3 are key regulators of the intracellular redox state preventing DNA damage as cells undergo differentiation
  • is specifically required for dopamine-related function and, if impaired, PITX3 could contribute during the pathogenesis of Parkinson disease
  • regulated levels of PITX3 and EN1 control the size and rostral/caudal-identity of the Mesodiencephalic dopaminergic (mdDA) neuronal population
    • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • lens formation during eye development
  • histogenesis and organogenesis
    • PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • nuclear receptor related 1, NR4A2 (
  • transcription regulatory role for FOXP1 on the PITX3 gene in mammalian stem cells
  • directly regulates FOXE3 during early lens development
  • LMO3 is a Ssubstantia nigra -specific co-regulator of PITX3-dependent transcription
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASMD2 , CTPP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in patients with Parkinson disease
    Susceptibility to PD dementia (PDD) and visuospatial dysfunction in idiopathic Parkinson disease (PD)
    Variant & Polymorphism SNP
  • common polymorphism in the PITX3 gene affects the risk of developing PD dementia (PDD) and visuospatial dysfunction in idiopathic Parkinson disease (PD)
    • Candidate gene
    Marker
  • PITX3 DNA methylation is an independent prognostic biomarker for overall survival in patients with head and neck squamous cell carcinoma
    • Therapy target
    ANIMAL & CELL MODELS
  • lack of Pitx3 in mice causes the preferential loss of substantia nigra pars compacta (SNc) mdDA neurons that are most affected in Parkinson disease
  • Pitx3-deficient mice exhibit severe but selective developmental loss of mDA neurons, with accompanying locomotor deficits resembling those seen in Parkinson's disease (PD) models
  • expression of truncated Pitx3 in the developing lens leads to microphthalmia and aphakia in mice
  • Pitx3(-/-) mice displayed abnormal motor activities, including impaired motor coordination and decreased locomotion