FAAP100 Gene Summary [Human]
FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | FAAP100 |
| Official Name | FA core complex associated protein 100 [Source:HGNC Symbol;Acc:HGNC:26171] |
| Ensembl ID | ENSG00000185504 |
| Bio databases IDs | |
| Aliases | FA core complex associated protein 100, Fanconi anemia-associated protein, 100kDa |
| Synonyms | 2310003H01Rik, C17orf70, FA core complex associated protein 100, Fanconi anaemia core complex associated protein 100, Fanconi anemia core complex associated protein 100, RGD1306926 |
| 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 FAAP100 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fanconi anemia-associated
- protein binding
Pathways
Biological processes and signaling networks where the FAAP100 gene in human plays a role, providing insight into its function and relevance in health or disease.
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
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAAP100 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- Fanconi anaemia nuclear complex
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding