FANCI Gene Summary [Human]
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FANCI |
| Official Name | FA complementation group I [Source:HGNC Symbol;Acc:HGNC:25568] |
| Ensembl ID | ENSG00000140525 |
| Bio databases IDs | |
| Aliases | FA complementation group I |
| Synonyms | BC025462, FA complementation group I, Fanconi anaemia, complementation group I, Fanconi anemia, complementation group I, FLJ10719, KIAA1794, MITOCHONDRIAL DNA POLYMERASE gamma, MITOCHONDRIAL DNA POLYMERASE γ |
| 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 FANCI often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FANCI solenoid 1
- FANCI helical domain 2
- enzyme binding
- leucine zipper domain
- protein binding
- FANCI solenoid 1 cap
- FANCI solenoid 4
- FANCI helical domain 1
- Fanconi anemia ID complex proteins FANCI and FANCD2
- FANCI solenoid 3
- FANCI solenoid 2
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- neoplasia
- Fanconi anemia
- Fanconi anemia group I
- breast cancer
- gastric cancer
- schizophrenia
- organismal death
- metastasis
- hepatitis B virus-related hepatocellular carcinoma
role in cell
- apoptosis
- growth
- cell viability
- number
- proliferation
- migration
- transcription in
- talazoparib sensitivity
- methylation in
- deubiquitination 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
- Cytoplasm
- cytosol
- nuclear foci
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FANCI gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- DNA polymerase binding
- protein binding