DNA-(Apurinic or Apyrimidinic Site) Lyase

Preferred Label : DNA-(Apurinic or Apyrimidinic Site) Lyase;

NCIt synonyms : REF-1; Apurinic/Apyrimidinic Exonuclease; APEX Nuclease (Multifunctional DNA Repair Enzyme); Apurinic/Apyrimidinic (Abasic) Endonuclease; APE; APEX; Deoxyribonuclease (Apurinic or Apyrimidinic); APX; Multifunctional DNA Repair Enzyme; REF1; APE1; AP Endonuclease Class I; APEN; HAP1; AP Lyase; APEX1; APE-1; Redox Factor-1; EC 3.1.-.-; EC 4.2.99.18; Apurinic/Apyrimidinic Endonuclease 1; APEX Nuclease; AP Endonuclease 1;

NCIt definition : DNA-(apurinic or apyrimidinic site) lyase (318 aa, 36 kDa) is encoded by the human APEX1 gene. This protein plays a role in both DNA repair and the regulation of transcription.;

NCIt note : A potent activator of p53 protein, APE1 may protect against cell lethality and suppress mutations produced by spontaneous hydrolysis, by chemicals and radiation, or by DNA glycosylases that remove abnormal bases from DNA. Abasic sites that can block DNA replication and cause mutations must be corrected to restore genetic integrity. A repressor of the PTH gene, APE binds to promoter negative Ca(2 )-response elements, which are also present in the APE1 gene.;

Details

Origin ID

C21415;

UMLS CUI

C0140145;

False automatic mappings
- autoimmune polyendocrinopathy syndrome, type 1 [MeSH Supplementary Concept]
OMIM relation
- Apex nuclease 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- APEX1 protein, human [MeSH Supplementary Concept]
- APEX1 protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- APEX1 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Esterase Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- Lyase Gene [NCIt concept]
gene_product_has_biochemical_function
- 3'-5' Exonuclease [NCIt concept]
- 5'-3' Exonuclease [NCIt concept]
- Hydrolase [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
- Granzyme A Mediated Apoptosis Pathway [NCIt concept]
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Survival [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Transcriptional Repression [NCIt concept]
is_target
- APE1/Ref-1 Redox Inhibitor APX3330 [NCIt concept]
- Brivudine [NCIt concept]
- Lucanthone [NCIt concept]

Keyword's position in hierarchy(ies) :

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