NEIL3: A DNA Glycosylase in Base Excision Repair and Genome Stability
Comprehensive gene card for NEIL3 (Nei Like DNA Glycosylase 3) – function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | NEIL3 |
|---|---|
| Full Name | Nei Like DNA Glycosylase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q34.3 |
| NCBI Gene ID | 55247 ncbi.nlm.nih.gov/gene/55247 |
| Ensembl ID | ENSG00000109674 |
| UniProt ID | Q8TAT5 |
| OMIM ID | 608934 |
| HGNC ID | 24813 |
| Aliases | hNEI3, FLJ10858, MGC26594 |
Description
NEIL3 encodes a DNA glycosylase of the base excision repair (BER) pathway, specifically a member of the Nei family. It excises oxidative DNA lesions, particularly hydantoin lesions (e.g., guanidinohydantoin, spiroiminodihydantoin) and thymine glycol, and plays a role in replication-associated repair, telomere maintenance, and genome stability. NEIL3 is also involved in the repair of interstrand crosslinks and is essential for embryonic development and hematopoiesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NEIL3 overexpression may promote genomic instability and tumor progression; altered BER activity | COSMIC; PMID: 25691456 |
| Lung cancer | Somatic mutations and altered expression of NEIL3 linked to oxidative stress response | COSMIC; PMID: 28481352 |
| Colorectal cancer | NEIL3 variants associated with microsatellite instability and poor prognosis | COSMIC; PMID: 29348622 |
| Hematopoietic disorders | NEIL3 deficiency impairs hematopoietic stem cell maintenance in mice | PMID: 27789798 |
| Neurodevelopmental disorders | NEIL3 mutations implicated in intellectual disability and microcephaly | ClinVar; PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Testis | 7.1 | Medium |
| Lymph node | 6.4 | Low |
| Brain | 2.1 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HeLa (cervical) | 9.8 | Moderate |
| A549 (lung) | 7.5 | Moderate |
| MCF7 (breast) | 6.1 | Low |
| HEK293 (embryonic kidney) | 4.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.632C>T (p.Pro211Leu) | Missense | 0.02% | Reduced glycosylase activity |
| c.1072G>A (p.Gly358Arg) | Missense | 0.01% | Unknown functional effect |
| c.1234_1235del (p.Lys412Glufs*2) | Frameshift | <0.01% | Truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Lys412Glufs*2) lead to truncated protein lacking catalytic domain, impairing BER activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NEIL3.
Dominant Negative (DN)
No dominant-negative mutations described for NEIL3.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • base-excision repair |
| • DNA glycosylase activity | • oxidized purine lesion repair |
| • telomere maintenance | • replication fork protection |
| • nucleus | • mitochondrion |
Pathways
• Base Excision Repair (BER)
• Oxidative Stress Response
• Telomere Maintenance via BER
Protein Summary
NEIL3 is a 605-amino acid DNA glycosylase with an N-terminal catalytic domain and a C-terminal zinc finger motif. It preferentially excises oxidized pyrimidines and hydantoin lesions from single-stranded DNA and replication forks. Unlike other NEIL family members, NEIL3 is cell-cycle regulated and highly expressed in proliferating tissues. It interacts with PCNA and is involved in replication-coupled repair. NEIL3 also localizes to telomeres and contributes to telomere integrity under oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEIL3 Knockout HEK293 Cell Line | EDJ-KQ1011 | Human | 55247 | Details Get a Quote |
| NEIL3 Knockout A-549 Cell Line | EDJ-KQ20070 | Human | 55247 | Details Get a Quote |
| NEIL3 Knockout HCT 116 Cell Line | EDJ-KQ20071 | Human | 55247 | Details Get a Quote |
| NEIL3 Knockout HeLa Cell Line | EDJ-KQ20072 | Human | 55247 | Details Get a Quote |
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