FAN1

Chr 15q13.3

FANCD2 and FANCI associated nuclease 1

MANE:: ENST00000362065.9

OMIM: 613534 ↗NCBI: 22909 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FAN1 · Q9Y2M0

v62025-08-01

Predicted Aligned Error matrix for FAN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.9/ 100

Low

1,017 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)13%
Low(50–70)5%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Unexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

karyomegalic interstitial nephritis
0.80
hereditary disease
0.47
chronic kidney disease
0.47
Abnormality of the skeletal system
0.38
interstitial nephritis
0.37
kidney failure
0.34
neurodegenerative disease
0.33
skin neoplasm
0.30
Tietze syndrome
0.29
benign neoplasm of eye
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Fanconi-associated nuclease 1

Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866)