PAXIP1 Gene Summary [Human]
This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PAXIP1 |
| Official Name | PAX interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:8624] |
| Ensembl ID | ENSG00000157212 |
| Bio databases IDs | |
| Aliases | PAX interacting protein 1 |
| Synonyms | CAGF28, CAGF29, D5Ertd149e, LOC681792, PACIP1, PAX interacting protein 1, PAX interacting (with transcription-activation domain) protein 1, PAXIP1L, PTIP, TNRC2 |
| 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 PAXIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BRCT
- Regulator of Ty1 transposition protein 107 BRCT domain
- twin BRCT domain
- BRCA1 C Terminus (BRCT) domain
- BRCT domain, a BRCA1 C-terminus domain
- protein binding
- breast cancer carboxy-terminal domain
Pathways
Biological processes and signaling networks where the PAXIP1 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
- immune thrombocytopenia
- growth failure
role in cell
- cell death
- apoptosis
- proliferation
- expression in
- phosphorylation in
- migration
- frequency
- degradation in
- survival
- number
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAXIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- positive regulation of transcription initiation from RNA polymerase II promoter
- DNA recombination
- positive regulation of isotype switching
- positive regulation of isotype switching to IgG isotypes
- negative regulation of sequence-specific DNA binding transcription factor activity
- vasculogenesis
- endothelial cell migration
- adipose tissue development
- chromatin remodeling
- chorion development
- DNA damage response, signal transduction by p53 class mediator
- positive regulation of protein ubiquitination
- response to ionizing radiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- histone methyltransferase complex
- nuclear matrix
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding