Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.2.2.-
Hydrolases;
Glycosylases;
Hydrolysing N-glycosyl compounds;
4.2.99.18
Lyases;
Carbon-oxygen lyases;
Other carbon-oxygen lyases;
DNA-(apurinic or apyrimidinic site) lyase
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006285 | base-excision repair, AP site formation |
| Biological Process | GO:0045008 | depyrimidination |
| Biological Process | GO:0006289 | nucleotide-excision repair |
| Molecular Function | GO:0051539 | 4 iron, 4 sulfur cluster binding |
| Molecular Function | GO:0019104 | DNA N-glycosylase activity |
| Molecular Function | GO:0003906 | DNA-(apurinic or apyrimidinic site) endonuclease activity |
| Molecular Function | GO:0140078 | class I DNA-(apurinic or apyrimidinic site) endonuclease activity |
| Molecular Function | GO:0003684 | damaged DNA binding |
| Molecular Function | GO:0003690 | double-stranded DNA binding |
| Molecular Function | GO:0004519 | endonuclease activity |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0008534 | oxidized purine nucleobase lesion DNA N-glycosylase activity |
| Molecular Function | GO:0000703 | oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR000445 | Helix-hairpin-helix motif |
| IPR003265 | HhH-GPD domain |
| IPR003651 | Endonuclease III-like, iron-sulphur cluster loop motif |
| IPR004036 | Endonuclease III-like, conserved site-2 |
| IPR011257 | DNA glycosylase |
| IPR023170 | Helix-hairpin-helix, base-excision DNA repair, C-terminal |
| IPR030841 | Endonuclease III-like protein 1 |
| Pfam
|
Pfam name |
|---|---|
| PF00633 | Helix-hairpin-helix motif |
| PF00730 | HhH-GPD superfamily base excision DNA repair protein |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-110328 | Recognition and association of DNA glycosylase with site containing an affected pyrimidine | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-110329 | Cleavage of the damaged pyrimidine | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-110357 | Displacement of DNA glycosylase by APEX1 | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-9630221 | Defective NTHL1 substrate processing | Leaf | R-HSA-1643685 | Disease |
| R-HSA-9630222 | Defective NTHL1 substrate binding | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000255 | PubMed:9611236 |
| Nucleus | ECO:0000255 | PubMed:10882850 |
| Nucleus | ECO:0000255 | PubMed:12531031 |
| Nucleus | ECO:0000255 | PubMed:9611236 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000138 | Ovarian cyst |
| HP:0002671 | Basal cell carcinoma |
| HP:0002858 | Meningioma |
| HP:0002860 | Squamous cell carcinoma |
| HP:0003002 | Breast carcinoma |
| HP:0003003 | Colon cancer |
| HP:0003581 | Adult onset |
| HP:0005227 | Adenomatous colonic polyposis |
| HP:0006725 | Pancreatic adenocarcinoma |
| HP:0006771 | Duodenal adenocarcinoma |
| HP:0008069 | Neoplasm of the skin |
| HP:0009725 | Bladder neoplasm |
| HP:0012114 | Endometrial carcinoma |
| HP:0012125 | Prostate cancer |
| HP:0012539 | Non-Hodgkin lymphoma |
| HP:0031287 | Seborrheic keratosis |
| HP:0100743 | Neoplasm of the rectum |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Supported |
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | Medium | Supported |
| appendix | lymphoid tissue | Medium | Supported |
| bone marrow | hematopoietic cells | High | Supported |
| breast | adipocytes | Medium | Supported |
| breast | glandular cells | Medium | Supported |
| breast | myoepithelial cells | Medium | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| caudate | glial cells | High | Supported |
| caudate | neuronal cells | High | Supported |
| cerebellum | Purkinje cells | Medium | Supported |
| cerebellum | cells in granular layer | Medium | Supported |
| cerebellum | cells in molecular layer | High | Supported |
| cerebral cortex | endothelial cells | Medium | Supported |
| cerebral cortex | glial cells | High | Supported |
| cerebral cortex | neuronal cells | High | Supported |
| cerebral cortex | neuropil | Medium | Supported |
| cervix | glandular cells | Low | Supported |
| cervix | squamous epithelial cells | Medium | Supported |
| colon | endothelial cells | Medium | Supported |
| colon | glandular cells | Medium | Supported |
| colon | peripheral nerve/ganglion | Medium | Supported |
| duodenum | glandular cells | Medium | Supported |
| endometrium 1 | cells in endometrial stroma | Medium | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | cells in endometrial stroma | Medium | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | Medium | Supported |
| esophagus | squamous epithelial cells | Medium | Supported |
| fallopian tube | glandular cells | Medium | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | High | Supported |
| hippocampus | glial cells | High | Supported |
| hippocampus | neuronal cells | High | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | High | Supported |
| liver | cholangiocytes | Medium | Supported |
| liver | hepatocytes | Medium | Supported |
| lung | alveolar cells type I | High | Supported |
| lung | alveolar cells type II | High | Supported |
| lung | macrophages | Medium | Supported |
| lymph node | germinal center cells | Medium | Supported |
| lymph node | non-germinal center cells | Medium | Supported |
| oral mucosa | squamous epithelial cells | High | Supported |
| ovary | follicle cells | Medium | Supported |
| ovary | ovarian stroma cells | Medium | Supported |
| pancreas | exocrine glandular cells | Medium | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | Medium | Supported |
| placenta | cytotrophoblasts | High | Supported |
| placenta | hofbauer cells | High | Supported |
| prostate | glandular cells | High | Supported |
| rectum | glandular cells | Medium | Supported |
| salivary gland | glandular cells | Medium | Supported |
| seminal vesicle | glandular cells | Medium | Supported |
| skeletal muscle | myocytes | Medium | Supported |
| skin 1 | cells in basal layer | Medium | Supported |
| skin 1 | cells in granular layer | Medium | Supported |
| skin 1 | cells in spinous layer | Medium | Supported |
| skin 1 | endothelial cells | High | Supported |
| skin 1 | fibrohistiocytic cells | Medium | Supported |
| skin 1 | hair follicles | Medium | Supported |
| skin 1 | langerhans cells | Medium | Supported |
| skin 1 | lymphocytes | High | Supported |
| skin 1 | melanocytes | Medium | Supported |
| skin 1 | vascular mural cells | High | Supported |
| skin 2 | cells in basal layer | Medium | Supported |
| skin 2 | cells in granular layer | Medium | Supported |
| skin 2 | cells in spinous layer | Medium | Supported |
| skin 2 | endothelial cells | High | Supported |
| skin 2 | fibrohistiocytic cells | Medium | Supported |
| skin 2 | hair follicles | Medium | Supported |
| skin 2 | langerhans cells | Medium | Supported |
| skin 2 | lymphocytes | High | Supported |
| skin 2 | melanocytes | Medium | Supported |
| skin 2 | vascular mural cells | High | Supported |
| small intestine | glandular cells | Medium | Supported |
| smooth muscle | smooth muscle cells | Medium | Supported |
| soft tissue 1 | fibroblasts | Medium | Supported |
| soft tissue 1 | peripheral nerve | Medium | Supported |
| soft tissue 2 | fibroblasts | Medium | Supported |
| soft tissue 2 | peripheral nerve | Medium | Supported |
| spleen | cells in red pulp | Medium | Supported |
| spleen | cells in white pulp | Medium | Supported |
| stomach 1 | glandular cells | Medium | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | Leydig cells | Low | Supported |
| testis | pachytene spermatocytes | High | Supported |
| testis | peritubular cells | Low | Supported |
| testis | preleptotene spermatocytes | High | Supported |
| testis | round or early spermatids | Medium | Supported |
| testis | spermatogonia cells | Medium | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | Medium | Supported |
| tonsil | non-germinal center cells | Medium | Supported |
| tonsil | squamous epithelial cells | Medium | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | Medium | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| nthl1-related attenuated familial adenomatous polyposis | MONDO:0014630 | D12 | chapter2, Neoplasms | OMIM:616415 | Orphanet:454840 |