PITX3 Gene Summary [Human]
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PITX3 |
| Official Name | paired like homeodomain 3 [Source:HGNC Symbol;Acc:HGNC:9006] |
| Ensembl ID | ENSG00000107859 |
| Bio databases IDs | |
| Aliases | paired like homeodomain 3 |
| Synonyms | ak, aphakia, ASGD1, ASMD, ASOD, CTPP4, CTRCT11, paired-like homeodomain 3, paired-like homeodomain transcription factor 3, PTX3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PITX3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- OAR motif
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- posterior polar cataract type 4
- motor dysfunction
- posterior polar cataract type 11
- anterior segment mesenchymal dysgenesis
- sensorimotor impairment
- hypothyroidism
- congenital cataract
- autosomal recessive syndromic cataract 11
role in cell
- apoptosis
- expression in
- accumulation in
- density
- maturation
- development
- loss
- differentiation
- quantity
- action potential in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PITX3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of gliogenesis
- response to cocaine
- regulation of transcription, DNA-dependent
- anatomical structure morphogenesis
- lens development in camera-type eye
- lens morphogenesis in camera-type eye
- positive regulation of neuron apoptotic process
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- midbrain development
- dopaminergic neuron differentiation
- positive regulation of transcription, DNA-dependent
- response to immobilization stress
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity