PAX3 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. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PAX3 |
| Official Name | paired box 3 [Source:HGNC Symbol;Acc:HGNC:8617] |
| Ensembl ID | ENSG00000135903 |
| Bio databases IDs | |
| Aliases | paired box 3 |
| Synonyms | CDHS, HUP2, paired box 3, Sp, Splchl2, splotch, WS1, WS3 |
| 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 PAX3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Paired box protein 7
- transcription regulator
- DNA binding domain
- alpha helix
- HTH_ARSR
- octapeptide domain
- transcription activation domain
- transcription factor binding
- chromatin binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- HTH_CRP
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- 'Paired box' domain
- homeodomain
- transcription factor activity
- Paired Box domain
Pathways
Biological processes and signaling networks where the PAX3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- alveolar rhabdomyosarcoma
- Waardenburg syndrome type 1
- Waardenburg syndrome type 3
- tumorigenesis
- Waardenburg syndrome
- alopecia
- soft tissue sarcoma cancer
- cholesteatoma
- idiopathic scoliosis
role in cell
- apoptosis
- growth
- proliferation
- migration
- expression in
- binding in
- colony formation
- invasion by
- quantity
- morphology
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAX3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- sensory perception of sound
- positive regulation of transcription, DNA-dependent
- apoptotic process
- nervous system development
- anatomical structure development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- HMG box domain binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity