NTHL1 Gene Summary [Human]
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | NTHL1 |
| Official Name | nth like DNA glycosylase 1 [Source:HGNC Symbol;Acc:HGNC:8028] |
| Ensembl ID | ENSG00000065057 |
| Bio databases IDs | |
| Aliases | nth like DNA glycosylase 1 |
| Synonyms | FAP3, hNTH1, NTH1, nth (endonuclease III)-like 1 (E.coli), nth-like DNA glycosylase 1, OCTS3, T4N5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NTHL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA N-glycosylase
- FES
- DNA-(apurinic or apyrimidinic site) lyase
- enzyme
- protein binding
- endonuclease III
- Helix-hairpin-helix motif
- carbon-oxygen lyase
- HhH-GPD superfamily base excision DNA repair protein
- ENDO3c
- endonuclease
- damaged DNA binding
- pyrimidine-specific oxidized base lesion DNA N-glycosylase
- double-stranded DNA binding
- DNA-formamidopyrimidine glycosylase
Pathways
Biological processes and signaling networks where the NTHL1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- hereditary cancer-predisposing syndrome
- familial adenomatous polyposis type 3
- mucoepidermoid carcinoma
- colorectal cancer
- NTHL1-deficiency tumor predisposition syndrome
- adenomatous polyposis
- colon adenoma formation
- colon adenomatous polyp
- colonic polyposis
role in cell
- accumulation in
- growth
- accumulation
- replication in
- formation
- formation in
- DNA damage response
- cell focus formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Mitochondria
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NTHL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- base-excision repair, AP site formation
- nucleotide-excision repair
- depyrimidination
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- endonuclease activity
- oxidized pyrimidine base lesion DNA N-glycosylase activity
- double-stranded DNA binding
- DNA-(apurinic or apyrimidinic site) lyase activity
- DNA N-glycosylase activity
- 4 iron, 4 sulfur cluster binding
- damaged DNA binding
- oxidized purine base lesion DNA N-glycosylase activity