PITX1 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 are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PITX1 |
| Official Name | paired like homeodomain 1 [Source:HGNC Symbol;Acc:HGNC:9004] |
| Ensembl ID | ENSG00000069011 |
| Bio databases IDs | |
| Aliases | paired like homeodomain 1 |
| Synonyms | BFT, CCF, LBNBG, paired-like homeodomain 1, paired-like homeodomain transcription factor 1, P-OTX, PTX1 |
| 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 PITX1 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
- transcription factor 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
- epithelial cancer
- osteoarthritis
- psoriasis
- congenital clubfoot
- micrognathia
- testicular carcinoma
- testicular cancer
- testicular germ cell tumor
- germ cell neoplasia
- keratocystic odontogenic tumor
role in cell
- migration
- differentiation
- phosphorylation in
- expression in
- transcription in
- development
- colony formation by
- tumorigenicity
- regulation 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
- Cytoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PITX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- negative regulation of transcription, DNA-dependent
- branchiomeric skeletal muscle development
- myoblast cell fate commitment
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- embryonic hindlimb morphogenesis
- regulation of transcription from RNA polymerase II promoter
- cartilage development
- pituitary gland development
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity