PAX7 Gene Summary [Human]
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Details
| Type | Protein Coding |
| Official Symbol | PAX7 |
| Official Name | paired box 7 [Source:HGNC Symbol;Acc:HGNC:8621] |
| Ensembl ID | ENSG00000009709 |
| Bio databases IDs | |
| Aliases | paired box 7 |
| Synonyms | CMYO19, CMYP19, HUP1, LOC284530, MYOSCO, paired box 7, PAX7B, RGD1564360, RMS2 |
| 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 PAX7 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
- Eh1 motif
- HTH_ARSR
- 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
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- psoriasis
- rhabdomyosarcoma
- muscle weakness
- Ewing sarcoma
- progressive congenital myopathy with scoliosis
- fibrosis
- diabetes mellitus
- cleft lip
- tic disorder
role in cell
- quantity
- expression in
- proliferation
- apoptosis
- differentiation
- colony formation
- disorganization
- organization
- commitment by
- acetylation 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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAX7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of apoptotic process
- satellite cell differentiation
- anatomical structure development
- anatomical structure morphogenesis
- 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
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity