Fanconi Anemia Group J Protein

Preferred Label : Fanconi Anemia Group J Protein;

NCIt synonyms : ATP-Dependent RNA Helicase BRIP1; BRCA1-Associated C-Terminal Helicase 1; Protein FACJ; BRCA1-Interacting Protein 1; BRCA1/BRCA2-Associated Helicase 1; BRCA1-Interacting Protein C-Terminal Helicase 1; BRIP1; EC 3.6.1.13; BRCA1-Binding Helicase-Like Protein BACH1; FANCJ;

NCIt definition : Fanconi anemia group J protein (1249 aa, 141 kDa) is encoded by the human BRIP1 gene. This protein is involved in DNA-dependent ATPase activity, 5' to 3' DNA helicase activity, and homologous recombination.;

Détails

Origin ID

C63528;

UMLS CUI

C1880731;

OMIM relation
- Brca1-interacting protein 1 [OMIM gene]
See also inter- (CISMeF)
- Fanconi anemia, complementation group j [OMIM Phenotype]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- BRIP1 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Helicase Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
gene_product_has_biochemical_function
- ATPase [NCIt concept]
- Fanconi Anemia Complementation Group Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_malfunction_associated_with_disease
- Fanconi Anemia [NCIt concept]
gene_product_plays_role_in_biological_process
- ATP Hydrolysis [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Maintenance Process [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Topology Regulation [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleic Acid Binding [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients