REV1 Gene: DNA Repair Polymerase and Cancer Susceptibility
Essential translesion synthesis polymerase involved in DNA damage tolerance, mutagenesis, and genomic stability.
Gene Information Card
| Symbol | REV1 |
|---|---|
| Full Name | REV1 homolog, DNA directed polymerase |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 51455 ncbi.nlm.nih.gov/gene/51455 |
| Ensembl ID | ENSG00000135945 |
| UniProt ID | Q9UBZ9 |
| OMIM ID | 606593 |
| HGNC ID | 14060 |
| Aliases | REV1L, DNA polymerase zeta catalytic subunit-like |
Description
The REV1 gene encodes a deoxycytidyl transferase involved in DNA translesion synthesis (TLS). REV1 is a Y-family DNA polymerase that inserts cytosine opposite damaged bases, particularly abasic sites and bulky adducts, facilitating replication past DNA lesions. It also serves as a scaffold for other TLS polymerases (e.g., Pol ζ) and is critical for DNA damage tolerance, mutagenesis, and genomic stability. REV1 is implicated in cancer susceptibility and chemoresistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | REV1 mutations and overexpression contribute to mutagenesis and tumor progression via error-prone TLS. | COSMIC, ClinVar, literature |
| Chemoresistance | REV1 upregulation promotes DNA damage tolerance to chemotherapeutic agents, leading to resistance. | Literature, ClinVar |
| Immunodeficiency (rare) | Biallelic REV1 mutations may impair somatic hypermutation and antibody diversity. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 3.4 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| A549 | 8.9 | Lung carcinoma |
| MCF7 | 7.8 | Breast cancer |
| K562 | 6.3 | Leukemia |
| HepG2 | 4.2 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | Reduced polymerase activity, potential impact on TLS |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function, impaired DNA repair |
| c.2345A>G (p.Asn782Ser) | Missense | 0.005% | Altered protein stability, possible dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in REV1 impair translesion synthesis, leading to increased DNA damage sensitivity and genomic instability.
Gain of Function (GOF)
Gain-of-function mutations or overexpression may enhance error-prone TLS, promoting mutagenesis and tumor progression.
Dominant Negative (DN)
Certain missense mutations may exert dominant-negative effects by disrupting protein-protein interactions with other TLS polymerases.
View complete mutation data：
Gene Ontology (GO)
| • DNA polymerase activity | • DNA binding |
| • damaged DNA binding | • nucleotidyltransferase activity |
| • translesion synthesis | • DNA repair |
| • response to DNA damage stimulus | • nucleus |
Pathways
• Translesion synthesis
• DNA damage bypass
• Fanconi anemia pathway
• Base excision repair (interplay)
Protein Summary
REV1 is a 138 kDa protein with a BRCT domain, a nucleotidyltransferase domain, and two ubiquitin-binding motifs (UBM). It primarily inserts cytosine opposite abasic sites and bulky adducts. REV1 interacts with REV7 and DNA polymerase ζ to coordinate TLS. Its expression is cell-cycle regulated and induced by DNA damage. REV1 is a target for cancer therapy due to its role in chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REV1 Knockout HEK293 Cell Line | EDJ-KQ11102 | Human | 51455 | Details Get a Quote |
| REV1 Knockout HCT 116 Cell Line | EDJ-KQ18200 | Human | 51455 | Details Get a Quote |
| REV1 Knockout A-549 Cell Line | EDJ-KQ39058 | Human | 51455 | Details Get a Quote |
| REV1 Knockout HeLa Cell Line | EDJ-KQ39059 | Human | 51455 | Details Get a Quote |
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