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22909 FAN1

22909

FAN1

FANCD2 and FANCI associated nuclease 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition FANCD2 and FANCI associated nuclease 1

研究结论

Date Results Publications
2020-10-24 14:10:00 Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. 32589923
2019-06-22 10:59:00 We show that FAN1 binds to the expanded HTT CAG repeat DNA and its nuclease activity is not required for protection against CAG repeat expansion. These data shed new mechanistic insights into how the genetic modifiers of Huntington's disease (HD) act to alter disease progression and show that FAN1 affects somatic expansion of the CAG repeat through a nuclease-independent mechanism. 30358836
2019-05-18 12:22:00 The results of our study argue against the implication of pathogenic variants of FAN1 in unexplained cases of suspected genetic predisposition to colorectal polyps/cancer. 30639725
2018-08-18 11:11:00 hFAN1 homodimerization plays a role in biological processes that involve 5' DNA Flap cleavage. 29518739
2018-04-21 10:46:00 FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2 29051491

名称对应

Type IDs
Synonymous KIAA1018, KMIN, MTMR15, hFAN1
Gene
UniProtKB-ID: FAN1_HUMAN
UniprotKB: Q9Y2M0
UniParc: UPI000006D713, UPI000000DABD
EMBL: AC087481, BC047882, AB023235, AK290987
Ensembl: ENSG00000198690, ENSG00000276787
KO: hsa:22909
Nucleutide sequences
EMBL-CDS: BAA76862.3, BAF83676.1, AAH47882.1
Ensembl_TRS: ENST00000670849, ENST00000561594, ENST00000565466, ENST00000658773, ENST00000657391, ENST00000656435, ENST00000621063, ENST00000362065, ENST00000561607
Protein sequencees
Ensembl_PRO: ENSP00000499703, ENSP00000354497, ENSP00000454544, ENSP00000455983, ENSP00000499534, ENSP00000484956, ENSP00000499638, ENSP00000499742, ENSP00000454223
RefSeq: XP_016877502.1, NP_001139568.1, XP_024305642.1, XP_016877501.1, NP_001139566.1, XP_005254289.1, XP_005254291.1, XP_011519674.1, NP_055782.3, XP_011519673.1, XP_005254292.1, NP_001139567.1, XP_011519672.1
Others
UniRef100: UniRef100_Q9Y2M0
UniRef90: UniRef90_Q9Y2M0
UniRef50: UniRef50_Q9Y2M0
UniGene: Hs.584863
CCDS: CCDS58344.1, CCDS32186.1

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