EXO1 Gene Summary [Human]
This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EXO1 |
| Official Name | exonuclease 1 [Source:HGNC Symbol;Acc:HGNC:3511] |
| Ensembl ID | ENSG00000174371 |
| Bio databases IDs | |
| Aliases | exonuclease 1, rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 |
| Synonyms | 5730442G03RIK, exonuclease 1, HEX1, hExoI, Msa |
| Species | Human, Homo sapiens |
| Orthologies |
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 EXO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 5'-3' exonuclease
- RAD2 domain
- Xeroderma pigmentosum G I-region
- central domain
- chromatin binding
- XPG I-region
- enzyme
- flap endonuclease
- double-stranded DNA specific exodeoxyribonuclease
- XPG N-terminal domain
- protein binding
- Helix-hairpin-helix class 2 (Pol1 family) motifs
- single-stranded DNA specific 5'-3' exodeoxyribonuclease
- DNA binding
- 5' phosphomonoester producing exodeoxyribonuclease
- H3TH_StructSpec-5'-nucleases
- ribonuclease H
- exonuclease
- Xeroderma pigmentosum G N-region
- PIN (PilT N terminus) domain: Superfamily
Pathways
Biological processes and signaling networks where the EXO1 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
- epithelial cancer
- epithelial neoplasia
- cancer
- hepatocellular carcinoma
- small cell lung cancer
- breast carcinoma
- organismal death
- lung squamous cell carcinoma
- squamous cell lung cancer
- papillary renal cell carcinoma
role in cell
- quantity
- apoptosis
- formation
- formation in
- expression in
- phosphorylation in
- number
- cell death
- survival
- accumulation 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.
- Nucleus
- Plasma Membrane
- nuclear foci
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- humoral immune response mediated by circulating immunoglobulin
- DNA repair
- meiotic cell cycle
- DNA recombination
- mismatch repair
- isotype switching
- somatic hypermutation of immunoglobulin genes
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 5'-flap endonuclease activity
- double-stranded DNA specific 5'-3' exodeoxyribonuclease activity
- chromatin binding
- 5'-3' exonuclease activity
- DNA binding
- ribonuclease H activity
- protein binding
- metal ion binding
- single-stranded DNA specific 5'-3' exodeoxyribonuclease activity
- exonuclease activity
- flap endonuclease activity
- 5'-3' exodeoxyribonuclease activity