InnateDB Protein
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IDBP-746546.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FAN1
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Protein Name
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Synonyms
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KIAA1018; KMIN; MTMR15;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000454223
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InnateDB Gene
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IDBG-4900 (FAN1)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
21
[view]
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Protein-Protein |
21
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006642
Zinc finger, Rad18-type putative
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
SM00734
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y2M0
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PhosphoSite |
PhosphoSite-Q9Y2M0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
22909
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UniGene |
Hs.627114
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RefSeq |
NP_001139568
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HUGO |
HGNC:29170
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OMIM |
613534
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CCDS |
CCDS58344
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HPRD |
17205
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IMGT |
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EMBL |
AB023235
AC087481
AK290987
BC047882
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GenPept |
AAH47882
BAA76862
BAF83676
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