PRRX1 Gene Summary [Human]
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | PRRX1 |
| Official Name | paired related homeobox 1 [Source:HGNC Symbol;Acc:HGNC:9142] |
| Ensembl ID | ENSG00000116132 |
| Bio databases IDs | |
| Aliases | paired related homeobox 1 |
| Synonyms | A230024N07Rik, AGOTC, Hox, K-2, mHox, MHox1, paired related homeobox 1, PHOX1, Pmx, PMX1, PRX-1 |
| 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 PRRX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- OAR motif
- transcription regulator
- nucleic acid binding
- transcription factor binding
- protein domain specific binding
- protein binding
- general RNA polymerase II transcription factor
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- diabetic nephropathy
- otocephaly
- craniosynostosis
- aortic stenosis
- atrial fibrillation
- spina bifida
- cyanosis
- hypoplasia
- organismal death
role in cell
- apoptosis
- cell viability
- number
- expression in
- migration
- proliferation
- invasion
- transactivation in
- growth
- sphere formation
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
- Mitochondria
- granules
- cytosol
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRRX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- palate development
- embryonic cranial skeleton morphogenesis
- transcription from RNA polymerase II promoter
- middle ear morphogenesis
- smoothened signaling pathway
- artery morphogenesis
- positive regulation of mesenchymal cell proliferation
- positive regulation of transcription from RNA polymerase II promoter
- neuronal stem cell maintenance
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- embryonic limb morphogenesis
- regulation of neuron projection regeneration
- neuron fate determination
- positive regulation of stem cell proliferation
- stem cell proliferation
- inner ear morphogenesis
- positive regulation of smoothened signaling pathway
- mesenchymal cell proliferation
- cartilage development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- HMG box domain binding
- protein binding
- general RNA polymerase II transcription factor activity
- 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
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity