NEIL1: A Key DNA Glycosylase in Base Excision Repair
Comprehensive gene card for NEIL1, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | NEIL1 |
|---|---|
| Full Name | nei like DNA glycosylase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.2 |
| NCBI Gene ID | 79661 ncbi.nlm.nih.gov/gene/79661 |
| Ensembl ID | ENSG00000140379 |
| UniProt ID | Q96FI4 |
| OMIM ID | 608844 |
| HGNC ID | 17648 |
| Aliases | NEI1, FPG1, hNEI1 |
Description
NEIL1 (nei like DNA glycosylase 1) encodes a DNA glycosylase that initiates base excision repair (BER) by excising oxidized pyrimidines and formamidopyrimidines from DNA. It is part of the Fpg/Nei family and is involved in the repair of oxidative DNA damage, particularly in replicating cells. NEIL1 has a preference for single-stranded DNA and bubble structures, and it plays a role in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | NEIL1 promoter hypermethylation leads to reduced expression, impairing BER and increasing mutation load. | PMID: 19706757 |
| Lung Cancer | Polymorphisms in NEIL1 (e.g., rs4462560) are associated with altered lung cancer risk. | PMID: 22235022 |
| Hereditary Cancer Predisposition | Rare NEIL1 variants may contribute to familial colorectal cancer through defective repair of oxidative lesions. | PMID: 26976432 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 11.2 | Medium |
| Bone Marrow | 8.5 | Medium |
| Lymph Node | 7.3 | Medium |
| Brain | 4.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells; high expression |
| HeLa | 7.5 | Cervical cancer cells; moderate expression |
| A549 | 6.2 | Lung carcinoma cells; moderate expression |
| K562 | 5.0 | Leukemia cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | 0.0004 (gnomAD) | Reduced glycosylase activity in vitro |
| c.880G>A (p.Glu294Lys) | Missense | 0.0002 (gnomAD) | Impaired substrate recognition |
| c.1A>G (p.Met1Val) | Start loss | <0.0001 | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Pro116Leu) reduce catalytic activity; start-loss variant p.Met1Val abolishes translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • base-excision repair |
| • DNA glycosylase activity | • oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity |
| • damaged DNA binding | • nucleus |
| • mitochondrion |
Pathways
• Base Excision Repair (BER) - Homo sapiens (hsa03410)
• Oxidative stress-induced senescence (REACT_116125)
Protein Summary
NEIL1 is a 389-amino acid DNA glycosylase that recognizes and excises oxidized bases such as thymine glycol, 5-hydroxyuracil, and 2,6-diamino-4-hydroxy-5-formamidopyrimidine (FapyG). It localizes to both the nucleus and mitochondria, and its activity is enhanced by interaction with replication protein A (RPA). NEIL1 is essential for the repair of oxidative damage in actively transcribed genes and during replication.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEIL1 Knockout HEK293 Cell Line | EDJ-KQ12023 | Human | 79661 | Details Get a Quote |
| NEIL1 Knockout A-549 Cell Line | EDJ-KQ40628 | Human | 79661 | Details Get a Quote |
| NEIL1 Knockout HCT 116 Cell Line | EDJ-KQ40629 | Human | 79661 | Details Get a Quote |
| NEIL1 Knockout HeLa Cell Line | EDJ-KQ40630 | Human | 79661 | Details Get a Quote |
| NEIL1 Knockout HAP1 Cell Line | EDC07979 | Human | 79661 | Details Get a Quote |
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