NTHL1
Endonuclease III-like protein 1
Also known as: NTH_HUMAN, NTH1, OCTS3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P78549
- Gene
- NTHL1
- Ensembl
- ENSG00000065057
- Chromosome
- 16
- Canonical length
- 304 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
304 residues, UniProt reviewed canonical sequence.
>P78549|NTHL1
1 MTALSARMLT RSRSLGPGAG PRGCREEPGP LRRREAAAEA RKSHSPVKRP RKAQRLRVAY
61 EGSDSEKGEG AEPLKVPVWE PQDWQQQLVN IRAMRNKKDA PVDHLGTEHC YDSSAPPKVR
121 RYQVLLSLML SSQTKDQVTA GAMQRLRARG LTVDSILQTD DATLGKLIYP VGFWRSKVKY
181 IKQTSAILQQ HYGGDIPASV AELVALPGVG PKMAHLAMAV AWGTVSGIAV DTHVHRIANR
241 LRWTKKATKS PEETRAALEE WLPRELWHEI NGLLVGFGQQ TCLPVHPRCH ACLNQALCPA
301 AQGLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NTHL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 25 nTPM
- liver: 24 nTPM
- cerebral cortex: 21 nTPM
- cerebellum: 21 nTPM
- midbrain: 18 nTPM
- amygdala: 18 nTPM
Single-cell type
- hepatocytes: 1,087 nCPM
- respiratory secretory cells: 81 nCPM
- goblet cells: 71 nCPM
- enteric stem cells: 64 nCPM
- conjunctival goblet cells: 50 nCPM
- megakaryocytes: 50 nCPM
Immune cell
- memory B-cell: 38 nTPM
- T-reg: 34 nTPM
- naive B-cell: 33 nTPM
- plasmacytoid DC: 26 nTPM
- intermediate monocyte: 26 nTPM
- myeloid DC: 26 nTPM
Brain region
- pons: 14 nTPM
- medulla oblongata: 14 nTPM
- thalamus: 13 nTPM
- cerebral cortex: 13 nTPM
- cerebellum: 12 nTPM
- basal ganglia: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NTHL1.
Disease | AllUniProt
Conditions NTHL1 is implicated in, by any mechanism.
- Familial adenomatous polyposis 3 (FAP3) MIM:616415
Disease | GeneticClinVar
153 pathogenic / likely-pathogenic of 1,779 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Familial adenomatous polyposis 3
- Hereditary cancer-predisposing syndrome
- NTHL1-deficiency tumor predisposition syndrome
- NTHL1-related disorder
- Familial adenomatous polyposis 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.6
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.8
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- 4 iron, 4 sulfur cluster binding
- class I DNA-(apurinic or apyrimidinic site) endonuclease activity
- damaged DNA binding
- DNA N-glycosylase activity
- DNA-(apurinic or apyrimidinic site) endonuclease activity
- double-stranded DNA binding
- endonuclease activity
- metal ion binding
- oxidized purine nucleobase lesion DNA N-glycosylase activity
- oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Helix-hairpin-helix motif
- HhH-GPD domain
- Endonuclease III-like, iron-sulphur cluster loop motif
- Endonuclease III-like, conserved site-2
- DNA glycosylase
- Helix-hairpin-helix, base-excision DNA repair, C-terminal
- Helix-hairpin-helix motif
- HhH-GPD superfamily base excision DNA repair protein
- Endonuclease III-like protein 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NTHL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NTHL1 as an antibody target. Whether an autoantibody or antibody against NTHL1 could matter depends on whether native NTHL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NTHL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NTHL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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