XAF1 Gene Summary [Human]
This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Details
| Type | Retained Intron |
| Official Symbol | XAF1 |
| Official Name | XIAP associated factor 1 [Source:HGNC Symbol;Acc:HGNC:30932] |
| Ensembl ID | ENSG00000132530 |
| Bio databases IDs | |
| Aliases | XIAP associated factor 1 |
| Synonyms | BIRC4BP, Fbox39, HSXIAPAF1, LOC687784, XIAPAF1, XIAP associated factor 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 XAF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- XIAP-associated factor 1 C-terminal domain
- protein binding
- zinc finger domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- uterine leiomyoma
- leiomyomatosis
- survival
- castration refractory prostate cancer
- systemic lupus erythematosus
- diabetes mellitus
- neoplasia
- prostate cancer
- insulin-dependent diabetes mellitus
role in cell
- expression in
- binding in
- apoptosis
- cell death
- phosphorylation in
- migration
- survival
- ubiquitination in
- cell survival
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
- Cytoplasm
- Mitochondria
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XAF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of type I interferon production
- apoptotic process
- response to interferon-beta
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding