PAX1 Gene Summary [Human]
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | PAX1 |
| Official Name | paired box 1 [Source:HGNC Symbol;Acc:HGNC:8615] |
| Ensembl ID | ENSG00000125813 |
| Bio databases IDs | |
| Aliases | paired box 1 |
| Synonyms | hbs, hunchback, HUP48, OFC2, OTFCS2, paired box 1, un, undulated, wt |
| 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 PAX1 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
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- HTH_ARSR
- 'Paired box' domain
- sequence-specific DNA binding
- transcription factor activity
- HTH_CRP
- Paired Box domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoplasia
- otofaciocervical syndrome type 2
- androgenic alopecia
- immune thrombocytopenia
- Goldenhar syndrome
- scoliosis
role in cell
- expression in
- proliferation
- apoptosis
- formation
- differentiation
- adipogenesis
- quantity
- transactivation in
- pluripotency
- maturation
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- anatomical structure development
- transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
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