InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FAN1

Summary

InnateDB Protein

IDBP-746056.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FAN1

Protein Name

Synonyms

KIAA1018; KMIN; MTMR15;

Species

Homo sapiens

Ensembl Protein

ENSP00000455983

InnateDB Gene

IDBG-4900 (FAN1)

Protein Structure

UniProt Annotation

Function

Nuclease required for maintenance of chromosomal stability. Plays a key role in DNA repair of DNA interstrand cross-links (ICL) by being recruited to sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL- induced DNA breaks by being required for efficient homologous recombination, possibly in the resolution of homologous recombination intermediates. Not involved in DNA double-strand breaks resection. Has both endonuclease activity toward 5'-flaps and 5'-exonuclease activity: may act in concert with the 3'-flap- specific enzymes to unhook the ICL by cleaving the lagging-strand template. {ECO:0000269PubMed:20603015, ECO:0000269PubMed:20603016, ECO:0000269PubMed:20603073, ECO:0000269PubMed:20671156}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:20603015, ECO:0000269PubMed:20603016, ECO:0000269PubMed:20603073, ECO:0000269PubMed:20671156}. Note=Localizes at sites of DNA damage following recruitment by monoubiquitinated FANCD2.

Disease Associations

Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]: A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life. {ECO:0000269PubMed:22772369}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0003677	DNA binding
GO:0004528	phosphodiesterase I activity
GO:0005515	protein binding
GO:0008409	5'-3' exonuclease activity
GO:0017108	5'-flap endonuclease activity
GO:0043130	ubiquitin binding

Biological Process

GO:0000724	double-strand break repair via homologous recombination
GO:0000737	DNA catabolic process, endonucleolytic
GO:0006281	DNA repair
GO:0006289	nucleotide-excision repair
GO:0033683	nucleotide-excision repair, DNA incision