GEN1 (GEN1 Holliday junction 5 flap endonuclease)

2004-11-01  

Identity

HGNC
LOCATION
2p24.2
LOCUSID
ALIAS
Gen

Other Information

Locus ID:

NCBI: 348654
MIM: 612449
HGNC: 26881
Ensembl: ENSG00000178295

Variants:

dbSNP: 348654
ClinVar: 348654
TCGA: ENSG00000178295
COSMIC: GEN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178295ENST00000317402Q17RS7
ENSG00000178295ENST00000381254Q17RS7
ENSG00000178295ENST00000524465E9PLG0
ENSG00000178295ENST00000532257E9PM30
ENSG00000178295ENST00000534451A0A087WXY3

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
240762212013Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells.104
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
240804952013Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions.61
231086682013The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy.26
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
206105422010Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.7
282905532017SLX4 Prevents GEN1-Dependent DSBs During DNA Replication Arrest Under Pathological Conditions in Human Cells.4
279906312017Holliday junction-resolving enzymes-structures and mechanisms.2
190206142008Identification of Holliday junction resolvases from humans and yeast.0
200405742010The human Holliday junction resolvase GEN1 rescues the meiotic phenotype of a Schizosaccharomyces pombe mus81 mutant.0

Citation

Dessen P

GEN1 (GEN1 Holliday junction 5 flap endonuclease)

Atlas Genet Cytogenet Oncol Haematol. 2004-11-01

Online version: http://atlasgeneticsoncology.org/gene/42931/gen1