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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit
Chromosome 6 · 6q21
NCBI Gene: 5980Ensembl: ENSG00000009413.17HGNC: HGNC:9968UniProt: O60673
112PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHomologous Recombination
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
error-prone translesion synthesisDNA biosynthetic processprotein bindingzeta DNA polymerase complexsmoking initiationMoebius syndromerisk-taking behaviourtype 2 diabetes mellitus
✦AI Summary

REV3L encodes the catalytic subunit of DNA polymerase zeta (Pol ζ), an error-prone polymerase essential for translesion DNA synthesis (TLS) that allows cells to replicate damaged DNA templates 1. The protein lacks 3'-5' exonuclease proofreading activity and works sequentially with other DNA polymerases to bypass various DNA lesions, including those caused by UV radiation and cisplatin 21. REV3L undergoes sophisticated regulation through multiple mechanisms: it is normally kept inactive by autoinhibition, but ATR-mediated phosphorylation activates it during replication stress while simultaneously triggering its degradation 3. Additionally, site-specific cleavage by Taspase1 prevents ubiquitination and proteasome-mediated degradation, controlling protein stability 1. REV3L cooperates with MAD2L2/REV7 and REV1 to protect stalled replication forks from nucleolytic processing 4 and fills single-stranded DNA gaps through RAD18-dependent pathways 5. Disease relevance includes de novo mutations causing Möbius syndrome, a neurological disorder characterized by facial nerve paralysis 6, though recent systematic studies question the strength of this association 7. The tight regulation of REV3L activity is crucial for balancing its essential DNA repair function against its mutagenic potential.

Sources cited
1
REV3L is the catalytic subunit of DNA polymerase zeta, lacks proofreading activity, and undergoes Taspase1-mediated cleavage that prevents degradation
PMID: 32064513
2
REV3L works sequentially with other DNA polymerases to bypass DNA lesions in a damage-type dependent manner
PMID: 19225445
3
REV3L is regulated by autoinhibition and ATR-mediated phosphorylation that activates the protein while triggering its degradation
PMID: 39215012
4
REV3L cooperates with MAD2L2 and REV1 to protect stalled replication forks from nucleolytic processing
PMID: 36075897
5
REV3L participates in RAD18-dependent pathways that fill single-stranded DNA gaps during post-replicative repair
PMID: 34624216
6
De novo mutations in REV3L cause Möbius syndrome, a neurological disorder with facial nerve paralysis
PMID: 26068067
7
Recent systematic studies question the strength of association between REV3L mutations and Möbius syndrome
PMID: 40662098
Disease Associationsⓘ20
smoking initiationOpen Targets
0.45Moderate
Moebius syndromeOpen Targets
0.37Weak
risk-taking behaviourOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.36Weak
schizophreniaOpen Targets
0.34Weak
psoriatic arthritisOpen Targets
0.32Weak
placental retentionOpen Targets
0.31Weak
substance abuseOpen Targets
0.30Weak
psoriasisOpen Targets
0.30Weak
smoking behaviorOpen Targets
0.30Weak
nicotine dependenceOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.28Weak
cannabis dependenceOpen Targets
0.28Weak
colon carcinomaOpen Targets
0.27Weak
Cannabis useOpen Targets
0.27Weak
Abnormality of refractionOpen Targets
0.26Weak
food allergyOpen Targets
0.25Weak
pericarditisOpen Targets
0.25Weak
hemolytic anemiaOpen Targets
0.25Weak
inflammatory bowel diseaseOpen Targets
0.21Weak
Pathogenic Variants4
NM_001372078.1(REV3L):c.8842C>T (p.Arg2948Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 2948
NC_000006.12:g.(?_111331676)_(111482888_?)delPathogenic
not provided
★☆☆☆2018
NM_001372078.1(REV3L):c.6220_6221del (p.Gln2074fs)Pathogenic
not provided
★☆☆☆2018→ Residue 2074
NM_001372078.1(REV3L):c.559A>T (p.Arg187Trp)Likely pathogenic
Carcinoma of colon
★☆☆☆2015→ Residue 187
View on ClinVar ↗
Related Genes
MCM3Protein interaction100%POLE3Protein interaction100%SHLD2Protein interaction100%WDHD1Protein interaction100%SHPRHProtein interaction99%POLA2Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Lung
73%
Bone Marrow
68%
Heart
63%
Ovary
55%
Liver
40%
Gene Interaction Network
Click a node to explore
REV3LMCM3POLE3SHLD2WDHD1SHPRHPOLA2
PROTEIN STRUCTURE
Preparing viewer…
PDB6BCD · 1.43 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.16–0.26]
RankingsWhere REV3L stands among ~20K protein-coding genes
  • #4,242of 20,598
    Most Researched112 · top quartile
  • #3,733of 5,498
    Most Pathogenic Variants4
  • #847of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedREV3L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Temporally distinct post-replicative repair mechanisms fill PRIMPOL-dependent ssDNA gaps in human cells.
PMID: 34624216
Mol Cell · 2021
1.00
2
Site-specific proteolytic cleavage prevents ubiquitination and degradation of human REV3L, the catalytic subunit of DNA polymerase ζ.
PMID: 32064513
Nucleic Acids Res · 2020
0.90
3
MAD2L2 promotes replication fork protection and recovery in a shieldin-independent and REV3L-dependent manner.
PMID: 36075897
Nat Commun · 2022
0.80
4
Molecular cloning, expression and chromosomal localisation of the mouse Rev3l gene, encoding the catalytic subunit of polymerase zeta.
PMID: 10102037
Mutat Res · 1999
0.70
5
A sophisticated mechanism governs Pol ζ activity in response to replication stress.
PMID: 39215012
Nat Commun · 2024
0.60