EXD1: Exonuclease 3'-5' Domain Containing 1
A gene encoding a 3'-5' exonuclease involved in DNA repair and genome stability.
Gene Information Card
| Symbol | EXD1 |
|---|---|
| Full Name | Exonuclease 3'-5' Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 161725 ncbi.nlm.nih.gov/gene/161725 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8N6H7 |
| OMIM ID | 617451 |
| HGNC ID | 28338 |
| Aliases | EXDL1, FLJ22170, MGC13170 |
Description
EXD1 (Exonuclease 3'-5' Domain Containing 1) is a protein-coding gene that encodes a 3'-5' exonuclease domain-containing protein. The protein is involved in DNA repair processes, particularly in the excision repair pathway, and contributes to maintaining genome stability. EXD1 is expressed in various tissues and is implicated in cellular responses to DNA damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in DNA repair deficiency; EXD1 mutations may impair excision repair, leading to genomic instability and tumorigenesis. | COSMIC; ClinVar |
| Colorectal cancer | Altered expression or mutations in EXD1 may contribute to microsatellite instability and tumor progression. | COSMIC; ClinVar |
| Lung cancer | EXD1 mutations found in lung adenocarcinoma; possible involvement in DNA damage response. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.5 | Low expression |
| A549 | 6.8 | Low expression |
| MCF7 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.782G>A (p.Arg261His) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.1234_1235insA | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg349*, c.1234_1235insA) lead to truncated or non-functional protein, impairing DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported for EXD1.
Dominant Negative (DN)
No dominant-negative mutations reported for EXD1.
View complete mutation data：
Gene Ontology (GO)
| • exonuclease activity (GO:0004527) | • DNA repair (GO:0006281) |
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • nuclease activity (GO:0004518) |
Pathways
• DNA excision repair (Reactome: R-HSA-73894)
• Base excision repair (KEGG: hsa03410)
Protein Summary
The EXD1 protein contains a conserved 3'-5' exonuclease domain, characteristic of the DEDD superfamily of exonucleases. It localizes to the nucleus and participates in DNA repair pathways, likely by removing damaged nucleotides during excision repair. The protein is 456 amino acids long and has a molecular weight of approximately 51 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXD1 Knockout HEK293 Cell Line | EDJ-KQ13340 | Human | 161829 | Details Get a Quote |
| EXD1 Knockout HeLa Cell Line | EDJ-KQ58833 | Human | 161829 | Details Get a Quote |
| EXD1 Knockout A-549 Cell Line | EDJ-KQ67319 | Human | 161829 | Details Get a Quote |
| EXD1 Knockout HCT 116 Cell Line | EDJ-KQ75717 | Human | 161829 | Details Get a Quote |
