FANCI: Fanconi Anemia Complementation Group I
A key component of the Fanconi anemia DNA repair pathway, essential for interstrand crosslink repair and genome stability.
Gene Information Card
| Symbol | FANCI |
|---|---|
| Full Name | Fanconi anemia complementation group I |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 55215 ncbi.nlm.nih.gov/gene/55215 |
| Ensembl ID | ENSG00000110799 |
| UniProt ID | Q9NVI1 |
| OMIM ID | 611360 |
| HGNC ID | 25568 |
| Aliases | KIAA1794, FLJ10719 |
Description
FANCI encodes a protein that is a core component of the Fanconi anemia (FA) DNA repair pathway. The FANCI protein forms a heterodimer with FANCD2, which is monoubiquitinated in response to DNA damage, particularly interstrand crosslinks. This modification targets the complex to chromatin to facilitate repair. Mutations in FANCI cause Fanconi anemia complementation group I, a disorder characterized by bone marrow failure, congenital abnormalities, and cancer predisposition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group I | Loss-of-function mutations impair DNA interstrand crosslink repair, leading to genomic instability and bone marrow failure. | ClinVar, OMIM |
| Breast cancer | FANCI variants may increase susceptibility to breast cancer due to defective DNA repair. | COSMIC, ClinVar |
| Acute myeloid leukemia | FA pathway defects, including FANCI mutations, predispose to AML. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Spleen | 6.8 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney |
| K562 | 8.9 | Leukemia cell line |
| MCF7 | 7.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2392C>T (p.Arg798*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.3073C>T (p.Arg1025Trp) | Missense | <0.1% | Impaired monoubiquitination and DNA repair |
| c.1111_1112del (p.Glu371fs) | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most FANCI mutations are loss-of-function, leading to defective interstrand crosslink repair and Fanconi anemia.
Gain of Function (GOF)
No gain-of-function mutations reported in FANCI.
Dominant Negative (DN)
Some missense mutations may act as dominant-negative by disrupting FANCD2 interaction.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • interstrand crosslink repair |
| • Fanconi anemia pathway | • protein heterodimerization |
| • chromatin binding | • nucleus |
Pathways
• Fanconi anemia pathway (KEGG hsa03460)
• DNA damage response
• Homologous recombination
Protein Summary
FANCI is a 1328-amino acid protein that localizes to the nucleus. It contains a DNA-binding domain and interacts directly with FANCD2. Upon DNA damage, the FANCI-FANCD2 complex is monoubiquitinated by the FA core complex, enabling recruitment to damaged chromatin. This protein is essential for the repair of DNA interstrand crosslinks and maintenance of genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FANCI (p.E1147K) Point Mutation in HAP1 Cell Line | EDC03478 | Human | 55215 | Details Get a Quote |
| FANCI (p.E1147Q) Point Mutation in HAP1 Cell Line | EDC03479 | Human | 55215 | Details Get a Quote |
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