GEN1
GEN1 Holliday Junction 5' Flap Endonuclease
Gene Information Card
| Symbol | GEN1 |
|---|---|
| Full Name | GEN1 Holliday Junction 5' Flap Endonuclease |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.2 |
| NCBI Gene ID | 348654 ncbi.nlm.nih.gov/gene/348654 |
| Ensembl ID | ENSG00000188786 |
| UniProt ID | Q17RS7 |
| OMIM ID | 612449 |
| HGNC ID | 26981 |
| Aliases | GEN, HJ resolvase, FLJ40869 |
Description
GEN1 (GEN1 Holliday Junction 5' Flap Endonuclease) encodes a member of the Rad2/xeroderma pigmentosum group G (XPG) nuclease family. The protein resolves Holliday junctions during homologous recombination and DNA repair, cleaving 5' flaps and processing replication fork intermediates. It is involved in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of GEN1 function impairs homologous recombination repair, leading to genomic instability and increased cancer risk. | PMID: 23555315 |
| Ovarian cancer | GEN1 mutations may contribute to defective DNA repair and tumorigenesis. | PMID: 23555315 |
| Fanconi anemia-like phenotype | Biallelic GEN1 mutations cause a Fanconi anemia-like disorder with chromosomal instability. | PMID: 28166811 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Bone marrow | 6.8 | Low |
| Lymph node | 5.4 | Low |
| Brain | 3.1 | Low |
| Liver | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Embryonic kidney |
| HeLa | 7.2 | Cervical carcinoma |
| MCF7 | 6.0 | Breast cancer |
| K562 | 5.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2515C>T (p.Arg839Ter) | Nonsense | Rare | Loss of function; truncation |
| c.1990G>A (p.Gly664Arg) | Missense | Rare | Likely damaging; reduced resolvase activity |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein or nonsense-mediated decay, impairing Holliday junction resolution.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004518 (GO:0004518) | • GO:0004520 (GO:0004520) |
| • GO:0006281 (GO:0006281) | • GO:0006310 (GO:0006310) |
| • GO:0000724 (GO:0000724) | • GO:0032508 (GO:0032508) |
Pathways
• Homologous recombination (Reactome: R-HSA-5695940)
• Resolution of D-loop structures (Reactome: R-HSA-5696399)
• Resolution of Holliday junctions (Reactome: R-HSA-5696400)
Protein Summary
GEN1 is a 908-amino acid protein belonging to the XPG nuclease family. It functions as a Holliday junction resolvase, cleaving symmetrical 5' flaps to resolve recombination intermediates. The protein contains an N-terminal catalytic domain and a C-terminal helix-hairpin-helix domain. It localizes to the nucleus and is essential for proper chromosome segregation and genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GEN1 Knockout HEK293 Cell Line | EDJ-KQ13583 | Human | 348654 | Details Get a Quote |
| GEN1 Knockout HCT 116 Cell Line | EDJ-KQ41985 | Human | 348654 | Details Get a Quote |
| GEN1 Knockout A-549 Cell Line | EDJ-KQ43244 | Human | 348654 | Details Get a Quote |
| GEN1 Knockout HeLa Cell Line | EDJ-KQ43246 | Human | 348654 | Details Get a Quote |
| GEN1 (p.S92T) Point Mutation in HAP1 Cell Line | EDC03499 | Human | 348654 | Details Get a Quote |
| GEN1 (p.E657=) Point Mutation in HAP1 Cell Line | EDC03500 | Human | 348654 | Details Get a Quote |
| GEN1 (p.T680I) Point Mutation in HAP1 Cell Line | EDC03501 | Human | 348654 | Details Get a Quote |
| GEN1 (c.2644A>G )Point Mutation in HAP1 Cell Line | EDC03502 | Human | 348654 | Details Get a Quote |
