POLL Gene (DNA Polymerase Lambda)
Essential DNA repair polymerase involved in base excision repair and V(D)J recombination
Gene Information Card
| Symbol | POLL |
|---|---|
| Full Name | DNA Polymerase Lambda |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 27343 ncbi.nlm.nih.gov/gene/27343 |
| Ensembl ID | ENSG00000166169 |
| UniProt ID | Q9UGP5 |
| OMIM ID | 606343 |
| HGNC ID | 9171 |
| Aliases | POLλ, POLKAPPA, B-POL |
Description
The POLL gene encodes DNA polymerase lambda (Pol λ), a member of the X family of DNA polymerases. Pol λ is a template-directed DNA polymerase that plays critical roles in base excision repair (BER), non-homologous end joining (NHEJ), and V(D)J recombination. It possesses both DNA polymerase and 5′-deoxyribose-5-phosphate lyase activities. The enzyme is involved in repairing oxidative and alkylation DNA damage and contributes to immunoglobulin gene diversification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Defective V(D)J recombination due to POLL mutations | Case reports; OMIM #606343 |
| Lung cancer | Altered POLL expression and somatic mutations | COSMIC; PMID: 23186163 |
| Colorectal cancer | Pol λ overexpression linked to microsatellite instability | PMID: 19223528 |
| Breast cancer | POLL polymorphisms associated with increased risk | PMID: 21504857 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Spleen | 7.6 | Medium |
| Lung | 5.1 | Low |
| Colon | 4.3 | Low |
| Breast | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| K562 | 9.5 | Leukemia cell line |
| A549 | 7.8 | Lung cancer cell line |
| HCT116 | 6.4 | Colorectal cancer cell line |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118G>A (p.Gly40Arg) | Missense | <0.01% | Reduced polymerase activity |
| c.497C>T (p.Thr166Ile) | Missense | <0.01% | Impaired lyase activity |
| c.832G>A (p.Glu278Lys) | Missense | <0.01% | Altered substrate specificity |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in catalytic domain (e.g., p.Gly40Arg) reduce DNA polymerase activity, impairing BER and NHEJ.
Gain of Function (GOF)
Not reported for POLL.
Dominant Negative (DN)
Not reported for POLL.
View complete mutation data：
Gene Ontology (GO)
| • DNA polymerase activity | • 5′-deoxyribose-5-phosphate lyase activity |
| • DNA binding | • base-excision repair |
| • double-strand break repair via nonhomologous end joining | • V(D)J recombination |
| • nucleotide-excision repair | • nucleus |
Pathways
• Base excision repair (BER)
• Non-homologous end joining (NHEJ)
• V(D)J recombination
Protein Summary
DNA polymerase lambda (Pol λ) is a 575-amino acid protein with a nuclear localization signal. It contains a BRCT domain at the N-terminus for protein-protein interactions, a proline-rich region, and a C-terminal polymerase domain. Pol λ exhibits low fidelity on undamaged templates but is essential for accurate repair of damaged DNA. It interacts with PCNA, XRCC1, and DNA ligase III during BER. The enzyme is highly expressed in lymphoid tissues and testis, consistent with its roles in immune diversity and meiosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLL Knockout HEK293 Cell Line | EDJ-KQ8768 | Human | 27343 | Details Get a Quote |
| POLL Knockout HCT 116 Cell Line | EDJ-KQ35032 | Human | 27343 | Details Get a Quote |
| POLL Knockout HeLa Cell Line | EDJ-KQ35033 | Human | 27343 | Details Get a Quote |
| POLL Knockout A-549 Cell Line | EDJ-KQ33774 | Human | 27343 | Details Get a Quote |
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