FAN1 Gene Summary [Human]
This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
Details
| Type | Processed Transcript |
| Official Symbol | FAN1 |
| Official Name | FANCD2 and FANCI associated nuclease 1 [Source:HGNC Symbol;Acc:HGNC:29170] |
| Ensembl ID | ENSG00000198690 |
| Bio databases IDs | |
| Aliases | FANCD2 and FANCI associated nuclease 1 |
| Synonyms | 6030441H18Rik, FANCD2 and FANCI associated nuclease 1, FANCD2/FANCI-associated nuclease 1, hFAN1, KIAA1018, KMIN, mFAN1, MTMR15, RGD1566323 |
| 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 FAN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UBZ domain
- 5'-3' exonuclease
- Rad18-like CCHC zinc finger
- protein binding activity, bridging
- VRR-NUC domain
- enzyme
- flap endonuclease
- protein binding
- PDDEXK family nucleases
- magnesium ion binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- karyomegalic interstitial nephritis
- Huntington disease
- hypertriglyceridemia
- Lynch syndrome
regulated by
- FAN1
- ficusin
role in cell
- recruitment in
- number
- survival
- function
- polyploidization
- lipotoxicity in
- abnormal morphology
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
- cilia
- cytoplasmic bridges
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- double-strand break repair via homologous recombination
- nucleotide-excision repair
Cellular Component
Where in the cell the gene product is active
- nucleus
- intercellular bridge
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 5'-3' exonuclease activity
- magnesium ion binding
- 5'-flap endonuclease activity
- protein binding
- phosphodiesterase I activity
- flap-structured DNA binding