Aprataxin - CISMeF

Preferred Label : Aprataxin;

NCIt synonyms : EC 3.6.1.71; EC 3.6.1.72; Forkhead-Associated Domain Histidine Triad-Like Protein; FHA-HIT; APTX;

NCIt definition : Aprataxin (356 aa, 41 kDa) is encoded by the human APTX gene. This protein plays a role in both DNA binding and dinucleotide polyphosphate hydrolase activity.;

NCIt note : Aprataxin has both diadenosine phosphatase (EC 3.6.1.71) and diguanosine phosphatase (EC 3.6.1.72) activity. (UniProt);

Détails

Origin ID

C185699;

UMLS CUI

C1143492;

Automatic exact mappings (from CISMeF team)
- Aprataxin [OMIM gene]
OMIM relation
- Aprataxin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- APTX protein, human [MeSH Supplementary Concept]
- APTX protein, human [MeSH concept]
Validated automatic mappings to BTNT
- APTX protein, human [MeSH Supplementary Concept]
- APTX protein, human [MeSH concept]
gene_encodes_gene_product
- APTX Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleolus [NCIt concept]
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- C2H2 Zinc Finger [NCIt concept]
- FHA Domain [NCIt concept]
- Nuclear Localization Signal [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients