Pitx1 Gene Summary [Mouse]
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic hindlimb morphogenesis; negative regulation of DNA-templated transcription; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including branchiomeric skeletal muscle development; hindlimb morphogenesis; and myoblast fate commitment. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; branchial arch; limb; and sensory organ. Used to study clubfoot. Human ortholog(s) of this gene implicated in clubfoot. Orthologous to human PITX1 (paired like homeodomain 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pitx1 |
| Official Name | paired-like homeodomain transcription factor 1 [Source:MGI Symbol;Acc:MGI:107374] |
| Ensembl ID | ENSMUSG00000021506 |
| Bio databases IDs | |
| Aliases | paired-like homeodomain transcription factor 1 |
| Synonyms | BFT, CCF, LBNBG, paired-like homeodomain 1, paired-like homeodomain transcription factor 1, P-OTX, PTX1 |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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