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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NTHL1
nth like DNA glycosylase 1
Chromosome 16 Β· 16p13.3
NCBI Gene: 4913Ensembl: ENSG00000065057.10HGNC: HGNC:8028UniProt: E5KTI5
99PubMed Papers
21Diseases
0Drugs
153Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
base-excision repair, AP site formationDNA N-glycosylase activityclass I DNA-(apurinic or apyrimidinic site) endonuclease activitydouble-stranded DNA bindingfamilial adenomatous polyposis 3attenuated familial adenomatous polyposiscancerhereditary neoplastic syndrome
✦AI Summary

NTHL1 is a bifunctional DNA N-glycosylase with AP-lyase activity that initiates base excision repair (BER), the primary pathway for repairing oxidative DNA damage 1. The enzyme releases damaged DNA bases by cleaving N-glycosidic bonds and subsequently cleaves phosphodiester bonds 3' to apurinic/apyrimidinic sites through beta-elimination 1. NTHL1 primarily recognizes oxidative pyrimidine lesions and 8-oxoguanine damage, and can function within nucleosomes without disrupting chr16 structure 1. Germline biallelic NTHL1 mutations cause NTHL1-associated polyposis (NAP), an autosomal recessive adenomatous polyposis syndrome with significantly increased colorectal and extracolonic cancer risk 2. Individuals with biallelic mutations demonstrate a broader tumor spectrum than those with MUTYH mutations, including breast and unusual cancers 3. Loss-of-function NTHL1 variants show enriched association with colorectal cancer risk 4. Additionally, NTHL1 expression levels modulate chemotherapy sensitivity; elevated NTHL1 expression enhances cisplatin sensitivity in non-small cell lung cancer cells, possibly through altered interactions with nucleotide excision repair proteins 5. These findings establish NTHL1 as a critical genomic caretaker whose dysfunction contributes to cancer predisposition and chemotherapy resistance 6.

Sources cited
1
NTHL1 is a bifunctional DNA N-glycosylase with AP-lyase activity that initiates BER for oxidative DNA damage repair
PMID: 29610152
2
Biallelic NTHL1 pathogenic variants cause autosomal recessive adenomatous polyposis with increased colorectal cancer risk
PMID: 40237887
3
NTHL1-associated polyposis shows broader tumor spectrum than MUTYH-associated polyposis and is approximately five times rarer
PMID: 29105096
4
Rare loss-of-function variants in NTHL1 show significant association with colorectal cancer/polyp risk
PMID: 30267214
5
NTHL1 expression levels and subcellular localization determine cisplatin sensitivity in lung cancer cells
PMID: 38384388
6
NTHL1 mutations contribute to cancer and aging through impaired genomic integrity maintenance
PMID: 33087284
Disease Associationsβ“˜21
familial adenomatous polyposis 3Open Targets
0.75Strong
attenuated familial adenomatous polyposisOpen Targets
0.67Moderate
cancerOpen Targets
0.57Moderate
hereditary neoplastic syndromeOpen Targets
0.57Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
NTHL1-deficiency tumor predisposition syndromeOpen Targets
0.57Moderate
colorectal cancerOpen Targets
0.55Moderate
prostate adenocarcinomaOpen Targets
0.19Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
skin basal cell carcinomaOpen Targets
0.19Weak
esophageal adenocarcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
osteosarcomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.18Weak
brain glioblastomaOpen Targets
0.18Weak
breast ductal adenocarcinomaOpen Targets
0.18Weak
Hepatobiliary NeoplasmOpen Targets
0.18Weak
Rectal Tubular AdenomaOpen Targets
0.18Weak
urinary bladder carcinomaOpen Targets
0.18Weak
Familial adenomatous polyposis 3UniProt
Pathogenic Variants153
NM_002528.7(NTHL1):c.526-1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026β†’ Residue 145
NM_002528.7(NTHL1):c.115+1G>APathogenic
not provided|Familial adenomatous polyposis 3|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3|NTHL1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 279
NM_002528.7(NTHL1):c.469del (p.Leu157fs)Pathogenic
not provided|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026β†’ Residue 157
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026β†’ Residue 261
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026β†’ Residue 121
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026β†’ Residue 131
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026β†’ Residue 54
NM_002528.7(NTHL1):c.353dup (p.Val119fs)Pathogenic
Familial adenomatous polyposis 3|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 119
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2026β†’ Residue 202
NM_002528.7(NTHL1):c.350dup (p.Val119fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_002528.7(NTHL1):c.116-1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2025
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2025β†’ Residue 122
NM_002528.7(NTHL1):c.665G>A (p.Trp222Ter)Pathogenic
not provided|Familial adenomatous polyposis 3|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 222
NM_002528.7(NTHL1):c.350del (p.Pro117fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2025β†’ Residue 117
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2025β†’ Residue 122
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)Pathogenic
not provided|Familial adenomatous polyposis 3|Hereditary cancer-predisposing syndrome|NTHL1-deficiency tumor predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 71
NM_002528.7(NTHL1):c.167_168del (p.Leu56fs)Pathogenic
not provided|Familial adenomatous polyposis 3
β˜…β˜…β˜†β˜†2025β†’ Residue 56
NM_002528.7(NTHL1):c.685+1G>APathogenic
Familial adenomatous polyposis 3|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025
View on ClinVar β†—
Related Genes
XRCC1Protein interaction100%POLBProtein interaction100%FEN1Protein interaction100%LIG1Protein interaction100%APEX1Protein interaction99%LIG3Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
44%
Ovary
40%
Lung
29%
Heart
28%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
NTHL1XRCC1POLBFEN1LIG1APEX1LIG3
PROTEIN STRUCTURE
Preparing viewer…
PDB7RDT Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.38LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.03 [0.78–1.38]
RankingsWhere NTHL1 stands among ~20K protein-coding genes
  • #4,849of 20,598
    Most Researched99 Β· top quartile
  • #496of 5,498
    Most Pathogenic Variants153 Β· top 10%
  • #14,379of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedNTHL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
PMID: 36768460
Int J Mol Sci Β· 2023
1.00
2
PMID: 32239880
0.90
3
Genetics, genomics and clinical features of adenomatous polyposis.
PMID: 40237887
Fam Cancer Β· 2025
0.80
4
Rare loss of function variants in candidate genes and risk of colorectal cancer.
PMID: 30267214
Hum Genet Β· 2018
0.70
5
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
PMID: 27476653
Am J Hum Genet Β· 2016
0.60