EEPD1
Endonuclease/Exonuclease/Phosphatase Family Domain Containing 1
Gene Information Card
| Symbol | EEPD1 |
|---|---|
| Full Name | Endonuclease/Exonuclease/Phosphatase Family Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 80820 ncbi.nlm.nih.gov/gene/80820 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q7L5N1 |
| OMIM ID | 614593 |
| HGNC ID | 25923 |
| Aliases | C7orf26, FLJ21908, MGC13170 |
Description
EEPD1 encodes a protein containing an endonuclease/exonuclease/phosphatase (EEP) domain. It is involved in DNA repair processes, particularly in the repair of DNA double-strand breaks and interstrand crosslinks. The protein interacts with the MRN complex and promotes resection at DNA ends. EEPD1 is expressed in multiple tissues and is implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | EEPD1 mutations may impair DNA repair, leading to genomic instability and tumorigenesis. | ClinVar, COSMIC |
| Ovarian cancer | Altered EEPD1 expression or function may contribute to DNA repair defects in ovarian tumors. | COSMIC |
| Fanconi anemia-like phenotype | Defects in EEPD1-mediated interstrand crosslink repair can cause cellular sensitivity to DNA damage. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.9 | Low |
| Brain | 4.1 | Low |
| Liver | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| MCF7 | 6.5 | Breast cancer cells |
| K562 | 5.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.1282G>A (p.Glu428Lys) | Missense | <0.01% | Unknown; predicted damaging |
| c.1543_1544del (p.Leu515fs) | Frameshift | <0.01% | Loss of function; frameshift |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in EEPD1 lead to truncated or absent protein, impairing DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported in EEPD1.
Dominant Negative (DN)
No dominant-negative mutations reported in EEPD1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DNA double-strand break repair
• Fanconi anemia pathway
• Homologous recombination
Protein Summary
The EEPD1 protein is a 656-amino acid endonuclease/exonuclease/phosphatase domain-containing protein. It localizes to the nucleus and participates in DNA repair by promoting resection at DNA double-strand breaks and facilitating interstrand crosslink repair. EEPD1 interacts with the MRN complex (MRE11-RAD50-NBS1) and is essential for efficient repair. Loss of EEPD1 function leads to increased sensitivity to DNA damaging agents and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEPD1 Knockout HEK293 Cell Line | EDJ-KQ575 | Human | 80820 | Details Get a Quote |
| EEPD1 Knockout A-549 Cell Line | EDJ-KQ20317 | Human | 80820 | Details Get a Quote |
| EEPD1 Knockout HCT 116 Cell Line | EDJ-KQ20319 | Human | 80820 | Details Get a Quote |
| EEPD1 Knockout HeLa Cell Line | EDJ-KQ20320 | Human | 80820 | Details Get a Quote |
