GEN1 (GEN1 Holliday junction 5 flap endonuclease)

2004-11-01  

Identity

HGNC
GEN1
LOCATION
2p24.2
LOCUSID
348654
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378403122024Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G).0
386543242024GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.0
378403122024Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G).0
386543242024GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.0
363807312022NCAPH Stabilizes GEN1 in Chromatin to Resolve Ultra-Fine DNA Bridges and Maintain Chromosome Stability.4
363807312022NCAPH Stabilizes GEN1 in Chromatin to Resolve Ultra-Fine DNA Bridges and Maintain Chromosome Stability.4
305907612019Resolution of the Holliday junction recombination intermediate by human GEN1 at the single-molecule level.8
305907612019Resolution of the Holliday junction recombination intermediate by human GEN1 at the single-molecule level.8
279906312017Holliday junction-resolving enzymes-structures and mechanisms.14
280498502017Resolution of single and double Holliday junction recombination intermediates by GEN1.21
282905532017SLX4 Prevents GEN1-Dependent DSBs During DNA Replication Arrest Under Pathological Conditions in Human Cells.7
283695832017Substrate preference of Gen endonucleases highlights the importance of branched structures as DNA damage repair intermediates.9
279906312017Holliday junction-resolving enzymes-structures and mechanisms.14
280498502017Resolution of single and double Holliday junction recombination intermediates by GEN1.21
282905532017SLX4 Prevents GEN1-Dependent DSBs During DNA Replication Arrest Under Pathological Conditions in Human Cells.7

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/css/lib/favicon/case-report-explorer/