REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit
Gene Information Card
| Symbol | REV3L |
|---|---|
| Full Name | REV3 like, DNA directed polymerase zeta catalytic subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 5980 ncbi.nlm.nih.gov/gene/5980 |
| Ensembl ID | ENSG00000109452 |
| UniProt ID | O60673 |
| OMIM ID | 602776 |
| HGNC ID | 9968 |
| Aliases | REV3, POLZ, REV3L, hREV3 |
Description
REV3L encodes the catalytic subunit of DNA polymerase zeta, a specialized DNA polymerase involved in translesion synthesis (TLS). This enzyme allows replication past DNA lesions that block replicative polymerases, often introducing mutations. REV3L is essential for maintaining genomic stability and is implicated in mutagenesis, cancer development, and resistance to chemotherapeutic agents.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | REV3L-mediated TLS promotes mutagenesis and tumor progression | PMID: 21804562 |
| Fanconi anemia | REV3L interacts with FANCD2 to facilitate TLS in DNA repair | PMID: 20080797 |
| Chemotherapy resistance | REV3L-dependent TLS bypasses platinum-induced DNA crosslinks | PMID: 20622833 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.5 | Cervical cancer cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| MCF7 | 6.4 | Breast cancer cell line |
| A549 | 5.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3079C>T (p.Arg1027*) | Nonsense | <0.01% | Loss of function; truncation |
| c.4562A>G (p.Asn1521Ser) | Missense | <0.01% | Unknown functional impact |
| c.7891G>A (p.Gly2631Arg) | Missense | <0.01% | Potential impact on polymerase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons, e.g., p.Arg1027*, result in truncated, non-functional protein.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in REV3L.
Dominant Negative (DN)
Dominant-negative effects have not been established for REV3L mutations.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed DNA polymerase activity | • DNA binding |
| • nucleus | • DNA replication |
| • translesion synthesis | • DNA repair |
Pathways
• Translesion synthesis
• DNA damage bypass
• Fanconi anemia pathway
Protein Summary
REV3L is a 3130-amino acid protein that forms the catalytic core of DNA polymerase zeta. It contains a B-family DNA polymerase domain and is involved in error-prone translesion synthesis. The protein interacts with REV7 (MAD2L2) to form the active polymerase complex, which is critical for bypassing DNA lesions such as pyrimidine dimers and crosslinks.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REV3L Knockout HEK293 Cell Line | EDJ-KQ50567 | Human | 5980 | Details Get a Quote |
| REV3L Knockout HeLa Cell Line | EDJ-KQ54312 | Human | 5980 | Details Get a Quote |
| REV3L Knockout A-549 Cell Line | EDJ-KQ62806 | Human | 5980 | Details Get a Quote |
| REV3L Knockout HCT 116 Cell Line | EDJ-KQ71271 | Human | 5980 | Details Get a Quote |
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