GEN1 Gene Summary [Human]

This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
GEN1
Official Name
GEN1 Holliday junction 5' flap endonuclease [Source:HGNC Symbol;Acc:HGNC:26881]
Ensembl ID
ENSG00000178295
Bio databases IDs NCBI: 348654 Ensembl: ENSG00000178295
Aliases GEN1 Holliday junction 5' flap endonuclease, Holliday junction resolvase
Synonyms 5830483C08Rik, FLJ40869, Gen, GEN1 Holliday junction 5' flap endonuclease, GEN1, Holliday junction 5' flap endonuclease, LOC284952, RGD1559792
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GEN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • DNA secondary structure binding
  • Xeroderma pigmentosum G I-region
  • XPG I-region
  • enzyme
  • flap endonuclease
  • XPG N-terminal domain
  • magnesium ion binding
  • Chromatin organization modifier domain 2
  • crossover junction endoribonuclease
  • H3TH_StructSpec-5'-nucleases
  • protein homodimerization
  • Xeroderma pigmentosum G N-region
  • PIN (PilT N terminus) domain: Superfamily

Pathways

Biological processes and signaling networks where the GEN1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • prostate cancer
  • familial ovarian cancer
  • familial breast carcinoma
  • breast carcinoma
  • familial breast cancer
regulated by
regulates
role in cell
  • activation in
  • formation
  • morphology
  • formation in
  • S phase
  • elongation
  • segregation
  • elongation in
  • segregation in
  • movement in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • centrosome
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GEN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • resolution of mitotic recombination intermediates
  • regulation of centrosome duplication
  • positive regulation of mitotic cell cycle spindle assembly checkpoint
  • double-strand break repair via homologous recombination
  • resolution of recombination intermediates
  • replication fork processing

Cellular Component

Where in the cell the gene product is active
  • centrosome
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • magnesium ion binding
  • 5'-flap endonuclease activity
  • protein homodimerization activity
  • four-way junction DNA binding
  • crossover junction endodeoxyribonuclease activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.