RAD1 Checkpoint DNA Exonuclease
A key component of the 9-1-1 cell cycle checkpoint complex involved in DNA damage repair and genomic stability.
Gene Information Card
| Symbol | RAD1 |
|---|---|
| Full Name | RAD1 checkpoint DNA exonuclease |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 5810 ncbi.nlm.nih.gov/gene/5810 |
| Ensembl ID | ENSG00000113456 |
| UniProt ID | O60671 |
| OMIM ID | 603153 |
| HGNC ID | 9806 |
| Aliases | RAD1 (S. pombe) homolog, HRAD1, REC1 |
Description
RAD1 encodes a component of the 9-1-1 (RAD9-RAD1-HUS1) cell cycle checkpoint complex, which is essential for DNA damage recognition and repair. The complex is loaded onto damaged DNA to activate checkpoint signaling and facilitate nucleotide excision repair and homologous recombination. RAD1 possesses 3'-5' exonuclease activity and is involved in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered RAD1 expression may impair DNA repair, increasing genomic instability and cancer risk. | COSMIC; ClinVar |
| Lung cancer | Somatic mutations in RAD1 have been identified, potentially affecting checkpoint function. | COSMIC |
| Colorectal cancer | Reduced RAD1 expression correlates with microsatellite instability. | NCBI Gene; PubMed |
| Fanconi anemia | RAD1 interacts with FANCD2; defects may contribute to DNA crosslink repair deficiency. | UniProt; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | Medium |
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.1 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| A549 | 12.3 | Lung cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.313C>T (p.Arg105Trp) | Missense | <0.1% | Unknown; predicted damaging |
| c.487G>A (p.Glu163Lys) | Missense | <0.1% | Unknown; predicted benign |
| c.724_725insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely impair exonuclease activity and complex formation, compromising DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the 9-1-1 complex interface may act as dominant-negative by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage checkpoint | • exonuclease activity |
| • DNA repair | • cell cycle checkpoint |
| • nucleotide-excision repair | • protein binding |
Pathways
• 9-1-1 cell cycle checkpoint pathway
• DNA damage response
• Nucleotide excision repair
• Homologous recombination
Protein Summary
RAD1 is a 282-amino acid protein that forms a heterotrimeric complex with RAD9 and HUS1 (the 9-1-1 complex). It has 3'-5' exonuclease activity and is recruited to sites of DNA damage to activate checkpoint kinases (e.g., CHK1) and coordinate repair. The protein is localized to the nucleus and is essential for genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD18 Knockout HEK293 Cell Line | EDJ-KQ14984 | Human | 56852 | Details Get a Quote |
| RAD18 Knockout A-549 Cell Line | EDJ-KQ45483 | Human | 56852 | Details Get a Quote |
| RAD18 Knockout HCT 116 Cell Line | EDJ-KQ45484 | Human | 56852 | Details Get a Quote |
| RAD18 Knockout HeLa Cell Line | EDJ-KQ45485 | Human | 56852 | Details Get a Quote |
| RAD1 Knockout HEK293 Cell Line | EDJ-KQ50552 | Human | 5810 | Details Get a Quote |
| RAD17 Knockout HEK293 Cell Line | EDJ-KQ50558 | Human | 5884 | Details Get a Quote |
| RAD1 Knockout HeLa Cell Line | EDJ-KQ54280 | Human | 5810 | Details Get a Quote |
| RAD17 Knockout HeLa Cell Line | EDJ-KQ54288 | Human | 5884 | Details Get a Quote |
| RAD1 Knockout A-549 Cell Line | EDJ-KQ62773 | Human | 5810 | Details Get a Quote |
| RAD17 Knockout A-549 Cell Line | EDJ-KQ62784 | Human | 5884 | Details Get a Quote |
| RAD1 Knockout HCT 116 Cell Line | EDJ-KQ71240 | Human | 5810 | Details Get a Quote |
| RAD17 Knockout HCT 116 Cell Line | EDJ-KQ71249 | Human | 5884 | Details Get a Quote |
