FAN1
entrez
22909
canonical
uniprot
Q9Y2M0
canonical
ensembl
ENSG00000198690
resolver
ensembl
ENSG00000276787
resolver
ensp
ENSP00000354497
resolver
ensp
ENSP00000454223
resolver
ensp
ENSP00000454544
resolver
ensp
ENSP00000455983
resolver
ensp
ENSP00000499780
resolver
ensp
ENSP00000687026
resolver
genesymbol
FAN1
resolver
genesymbol_syn
KIAA1018
resolver
genesymbol_syn
MTMR15
resolver
hgnc
HGNC:29170
resolver
uniprot
A8K4M2
resolver
uniprot
Q86WU8
resolver
uniprot_entry
FAN1_HUMAN
resolver
uniprot_sec
A8K4M2
resolver
uniprot_sec
Q86WU8
resolver
amino_acid_sequence
MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHLDEMCANNDFVQVDPGQVGLINSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKREVKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLSRKYVKAKKSIDKDEEFAGSSPQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAESQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACHCEEVKMTVASEAKIQLSDSEAKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQGSSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQEKGIVTKFYQLSATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKGPRAVFSRILLLFSLTDSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRDWNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQHLKRLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKSVFVMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFTSRRPALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHCRGGLPDLVVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22772369}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Schizophrenia and autism. Schizophrenia is a severe psychiatric disorder characterized by positive, negative, and cognitive symptoms, and it is associated with increased mortality and severely reduced fecundity. Autim is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. Disease susceptibility may be associated with variants affecting the gene represented in this entry. {ECO:0000269|PubMed:24344280}.
uniprot
proteins
ec_number
3.1.21.-
uniprot
proteins
ec_number
3.1.4.1
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:20603015, ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:20671156, ECO:0000269|PubMed:24981866, ECO:0000269|PubMed:25135477, ECO:0000269|PubMed:25430771}.
uniprot
proteins
mass_dalton
114225
uniprot
proteins
mutagenesis
MUTAGEN 44; /note="C->A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-47."; /evidence="ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:20671156"; MUTAGEN 47; /note="C->A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44."; /evidence="ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073"; MUTAGEN 477; /note="L->P: Still localized to sites of DNA damage but the strength of the signal is diminished."; /evidence="ECO:0000269|PubMed:20603073"; MUTAGEN 706; /note="R->A: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-952."; /evidence="ECO:0000269|PubMed:25430771"; MUTAGEN 864; /note="Q->A: Loss of nuclease activity; when associated with A-960; A-975 and A-977."; /evidence="ECO:0000269|PubMed:20603073"; MUTAGEN 952; /note="R->A: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-706."; /evidence="ECO:0000269|PubMed:25430771"; MUTAGEN 960; /note="D->A: Loss of nuclease activity. Loss of nuclease activity; when associated with A-864; A-975 and A-977."; /evidence="ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:20671156"; MUTAGEN 975; /note="E->A: Loss of nuclease activity; when associated with A-864; A-960 and A-977."; /evidence="ECO:0000269|PubMed:20603073"; MUTAGEN 977; /note="K->A: Loss of nuclease activity; when associated with A-864; A-960 and A-975."; /evidence="ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:20671156"; MUTAGEN 981..982; /note="DR->AA: Loss of nuclease activity."; /evidence="ECO:0000269|PubMed:20603015
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex. {ECO:0000269|PubMed:22854063}.
uniprot
proteins
protein_family
FAN1 family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
20603015
uniprot
proteins
pubmed
20603016
uniprot
proteins
pubmed
20603073
uniprot
proteins
pubmed
20671156
uniprot
proteins
pubmed
20935496
uniprot
proteins
pubmed
21115814
uniprot
proteins
pubmed
22772369
uniprot
proteins
pubmed
22854063
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24344280
uniprot
proteins
pubmed
24981866
uniprot
proteins
pubmed
25135477
uniprot
proteins
pubmed
25430771
uniprot
proteins
sequence_length
1017
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20603015, ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:20671156, ECO:0000269|PubMed:20935496}. Note=Localizes at sites of DNA damage following recruitment by monoubiquitinated FANCD2 (PubMed:20603015, PubMed:20603016). Localizes to stalled replication forks via its UBZ4-type zinc finger (PubMed:20935496). {ECO:0000269|PubMed:20603015, ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20935496}.
uniprot
proteins