TAG for PITX3

Gene content

Symbol

PITX3 (-- by HUGO)

Name

paired-like homeodomain 3 (Previous name: paired-like homeodomain transcription factor 3 ) PITX3: Ap

Category

Alias

paired-like
homeodomain
Paired-like
homeodomain
transcription
factor
Homeobox
protein
PITX3
PTX3
CTPP4
pituitary
homeobox

Cytogenetic band

NCBI: 10q24.32 Ensembl: 10q24.32

Protein information

PITX3_HUMAN

Size: 302 amino acids

Mass: 31832 Da

Subcellular location: Nucleus (By similarity) Secondary accessions: Q5VZL2 Explore the universe of human proteins at neXtProt for PITX3: NX_O75364 Post-translational modifications: * View phosphorylation sites using PhosphoSite2 Protein expression data from MOPED: [IMAGE] --

Subunit: Interacts with SFPQ (By similarity)

Tissue specificity: Highly expressed in developing eye lens

Similarity:

Belongs to the paired homeobox family. Bicoid subfamily

Contains 1 homeobox DNA-binding domain

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001356	Homeobox	Homeobox	Domain
	IPR003654	Homeo_OAR	Paired-like homeodomain protein, OAR	Domain
	IPR012287	Homeodomain-rel	Homeodomain-related	Domain
Blocks	IPB003654	Paired-like homeodomain protein	Paired-like homeodomain protein, OAR

Disorder & Mutation
Source	Disease
SWISS-PROT	Defects in PITX3 are a cause of cataract autosomal dominant (ADC) [MIM:604219]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood
SWISS-PROT	Defects in PITX3 are a cause of anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]; also known as anterior segment ocular dysgenesis (ASOD). ASMD consists of a range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Mature anterior segment anomalies are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis

PITX3 cross reference