Property Summary

NCBI Gene PubMed Count 18
Grant Count 24
R01 Count 14
Funding $9,705,368.49
PubMed Score 105.98
PubTator Score 62.50

Knowledge Summary

Patent

No data available

Expression

Gene RIF (14)

PMID Text
26578604 human GEN1 protein promotes Holliday junction resolution by a mechanism that is analogous to that exhibited by the prototypic HJ resolvase E. coli RuvC.
25209024 GEN1 is controlled by nuclear exclusion, driven by a nuclear export signal that restricts GEN1 actions to mitosis. Spatial control of GEN1 contributes to genome stability by avoiding competition with non-crossover promoting repair pathways.
24080495 GEN1 activity cannot be substituted for the SLX4-associated nucleases, and one of the HJ resolvase activities, either of those associated with SLX4 or with GEN1, is required for cell viability, even in the presence of BLM.
24076221 Data show that three structure-selective endonucleases, SLX1-SLX4, MUS81-EME1, and GEN1, define two pathways of Holliday junctions (HJs) resolution in HeLa cells.
23166748 Our findings provide novel insight into the biological functions of GEN1 by uncovering an important role of GEN1 in the regulation of centrosome integrity.
23108668 Study observed centrosome defects in the absence of XRCC3. While RAD51B and RAD51C act early in homologous recombination, XRCC3 functions jointly with GEN1 later in the pathway at the stage of Holliday junction resolution.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20634321 Study shows that, like E coli Holliday junction (HJ)resolvase RuvC, GEN1 binds specifically to HJs and resolves them by a dual incision mechanism in which nicks are introduced in the pair of continuous strands within the lifetime of the GEN1-HJ complex.
20610542 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20512659 Data indicate that although it also plays a key role in double-strand DNA break repair, GEN1 does not make an appreciable contribution to breast cancer susceptibility by acting as a high- or intermediate-penetrance breast cancer predisposition gene.
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AA Sequence

MGVNDLWQILEPVKQHIPLRNLGGKTIAVDLSLWVCEAQTVKKMMGSVMKPHLRNLFFRISYLTQMDVKL      1 - 70
VFVMEGEPPKLKADVISKRNQSRYGSSGKSWSQKTGRSHFKSVLRECLHMLECLGIPWVQAAGEAEAMCA     71 - 140
YLNAGGHVDGCLTNDGDTFLYGAQTVYRNFTMNTKDPHVDCYTMSSIKSKLGLDRDALVGLAILLGCDYL    141 - 210
PKGVPGVGKEQALKLIQILKGQSLLQRFNRWNETSCNSSPQLLVTKKLAHCSVCSHPGSPKDHERNGCRL    211 - 280
CKSDKYCEPHDYEYCCPCEWHRTEHDRQLSEVENNIKKKACCCEGFPFHEVIQEFLLNKDKLVKVIRYQR    281 - 350
PDLLLFQRFTLEKMEWPNHYACEKLLVLLTHYDMIERKLGSRNSNQLQPIRIVKTRIRNGVHCFEIEWEK    351 - 420
PEHYAMEDKQHGEFALLTIEEESLFEAAYPEIVAVYQKQKLEIKGKKQKRIKPKENNLPEPDEVMSFQSH    421 - 490
MTLKPTCEIFHKQNSKLNSGISPDPTLPQESISASLNSLLLPKNTPCLNAQEQFMSSLRPLAIQQIKAVS    491 - 560
KSLISESSQPNTSSHNISVIADLHLSTIDWEGTSFSNSPAIQRNTFSHDLKSEVESELSAIPDGFENIPE    561 - 630
QLSCESERYTANIKKVLDEDSDGISPEEHLLSGITDLCLQDLPLKERIFTKLSYPQDNLQPDVNLKTLSI    631 - 700
LSVKESCIANSGSDCTSHLSKDLPGIPLQNESRDSKILKGDQLLQEDYKVNTSVPYSVSNTVVKTCNVRP    701 - 770
PNTALDHSRKVDMQTTRKILMKKSVCLDRHSSDEQSAPVFGKAKYTTQRMKHSSQKHNSSHFKESGHNKL    771 - 840
SSPKIHIKETEQCVRSYETAENEESCFPDSTKSSLSSLQCHKKENNSGTCLDSPLPLRQRLKLRFQST      841 - 908
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Text Mined References (22)

PMID Year Title
26578604 2015 GEN1 promotes Holliday junction resolution by a coordinated nick and counter-nick mechanism.
25209024 2014 Spatial control of the GEN1 Holliday junction resolvase ensures genome stability.
24080495 2013 Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions.
24076221 2013 Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23166748 2012 A novel role of human holliday junction resolvase GEN1 in the maintenance of centrosome integrity.
23108668 2013 The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20634321 2010 Mechanism of Holliday junction resolution by the human GEN1 protein.
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