Identity
HGNC
LOCATION
15q13.3
LOCUSID
ALIAS
KIAA1018,KMIN,MTMR15,hFAN1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22909
MIM: 613534
HGNC: 29170
Ensembl: ENSG00000198690
Variants:
dbSNP: 22909
ClinVar: 22909
TCGA: ENSG00000198690
COSMIC: FAN1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Fanconi anemia pathway | KEGG | ko03460 |
| Fanconi anemia pathway | KEGG | hsa03460 |
| DNA Repair | REACTOME | R-HSA-73894 |
| Fanconi Anemia Pathway | REACTOME | R-HSA-6783310 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38607933 | 2024 | Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease. | 0 |
| 38892095 | 2024 | Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family. | 0 |
| 38607933 | 2024 | Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease. | 0 |
| 38892095 | 2024 | Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family. | 0 |
| 37549289 | 2023 | FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism. | 4 |
| 37549289 | 2023 | FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism. | 4 |
| 35181726 | 2022 | New insights on familial colorectal cancer type X syndrome. | 10 |
| 35379994 | 2022 | Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. | 23 |
| 35931300 | 2022 | Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1. | 9 |
| 35181726 | 2022 | New insights on familial colorectal cancer type X syndrome. | 10 |
| 35379994 | 2022 | Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. | 23 |
| 35931300 | 2022 | Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1. | 9 |
| 33579867 | 2021 | FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders. | 18 |
| 34228493 | 2021 | FANCD2-Associated Nuclease 1 Partially Compensates for the Lack of Exonuclease 1 in Mismatch Repair. | 10 |
| 34469738 | 2021 | FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease. | 22 |
Citation
Dessen P
FAN1 (FANCD2 and FANCI associated nuclease 1)
Atlas Genet Cytogenet Oncol Haematol. 2010-08-01
Online version: http://atlasgeneticsoncology.org/gene/51602/fan1
