DCLRE1A: DNA Cross-Link Repair 1A
Key player in interstrand cross-link repair and V(D)J recombination
Gene Information Card
| Symbol | DCLRE1A |
|---|---|
| Full Name | DNA cross-link repair 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 9937 ncbi.nlm.nih.gov/gene/9937 |
| Ensembl ID | ENSG00000198924 |
| UniProt ID | Q6PJP8 |
| OMIM ID | 609682 |
| HGNC ID | 17661 |
| Aliases | SNM1A, hSNM1, KIAA0086 |
Description
DCLRE1A (DNA cross-link repair 1A) encodes a 5' exonuclease involved in the repair of DNA interstrand cross-links (ICLs) and processing of DNA double-strand breaks during V(D)J recombination. The protein belongs to the SNM1 family and functions in the Fanconi anemia pathway. Mutations in DCLRE1A are associated with bone marrow failure and sensitivity to DNA cross-linking agents.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bone marrow failure syndrome | Loss-of-function mutations impair ICL repair, leading to hematopoietic stem cell depletion | PMID: 27535533 |
| Fanconi anemia-like disorder | Defective cross-link repair via the FA pathway | ClinVar: RCV000169805 |
| Acute myeloid leukemia (AML) | Somatic mutations may contribute to genomic instability | COSMIC: COSM1714154 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | Moderate expression |
| HeLa (cervical) | 9.8 | Low expression |
| HEK293 (embryonic kidney) | 7.4 | Low expression |
| HepG2 (liver) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.847C>T (p.Arg283*) | Nonsense | <0.01% | Loss of function; associated with bone marrow failure |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Impaired exonuclease activity |
| c.1567_1568del (p.Leu523fs) | Frameshift | <0.01% | Premature truncation; reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of exonuclease activity, impairing ICL repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 5'-3' exonuclease activity (GO:0008409) | • DNA repair (GO:0006281) |
| • interstrand cross-link repair (GO:0036297) | • nucleus (GO:0005634) |
| • V(D)J recombination (GO:0033151) |
Pathways
• Fanconi anemia pathway (Reactome: R-HSA-6783310)
• DNA interstrand cross-link repair (KEGG: hsa03450)
• Non-homologous end joining (Reactome: R-HSA-5693571)
Protein Summary
DCLRE1A (SNM1A) is a 5' exonuclease that processes DNA ends during interstrand cross-link repair and V(D)J recombination. It contains a metallo-beta-lactamase domain essential for its nuclease activity. The protein localizes to the nucleus and interacts with components of the Fanconi anemia pathway. Defects in DCLRE1A cause sensitivity to DNA cross-linking agents and are linked to bone marrow failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCLRE1A Knockout HEK293 Cell Line | EDJ-KQ6829 | Human | 9937 | Details Get a Quote |
| DCLRE1A Knockout HeLa Cell Line | EDJ-KQ30007 | Human | 9937 | Details Get a Quote |
| DCLRE1A Knockout A-549 Cell Line | EDJ-KQ31367 | Human | 9937 | Details Get a Quote |
| DCLRE1A Knockout HCT 116 Cell Line | EDJ-KQ31368 | Human | 9937 | Details Get a Quote |
