Nibrin - CISMeF

Preferred Label : Nibrin;

NCIt synonyms : AT-V2; Nijmegen Breakage Syndrome Protein 1; MRE11/RAD50 Complex p95 Protein; ATV; NBS1; AT-V1; Cell Cycle Regulatory Protein P95; NBS; p95 Protein of the MRE11/RAD50 Complex; NBN;

NCIt definition : Nibrin (754 aa, 85 kDa) is encoded by the human NBN gene. This protein is involved in cell cycle checkpoint control, DNA damage responses and meiotic recombination.;

Details

Origin ID

C21171;

UMLS CUI

C0674679;

False automatic mappings
- Microcephaly, normal intelligence and immunodeficiency (disorder) [SNOMED CT concept]
- Nicolaides-baraitser syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [ICD-11 More detail]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [ORDO Disease]
- nijmegen breakage syndrome [MeSH Descriptor]
OMIM relation
- Nibrin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- NBN protein, human [MeSH concept]
- NBN protein, human [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- NBN protein, human [MeSH concept]
- NBN protein, human [MeSH Supplementary 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
- DNA Repair Gene [NCIt concept]
- NBN Gene [NCIt concept]
gene_product_expressed_in_tissue
- Digestive System [NCIt concept]
- Kidney [NCIt concept]
- Liver [NCIt concept]
- Lung [NCIt concept]
- Smooth Muscle Tissue [NCIt concept]
- Spleen [NCIt concept]
- Striated Muscle Tissue [NCIt concept]
- Testis [NCIt concept]
- Thymus Gland [NCIt concept]
gene_product_has_biochemical_function
- DNA Repair Protein [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- BRCT Domain [NCIt concept]
- FHA Domain [NCIt concept]
gene_product_is_element_in_pathway
- ATM Signaling Pathway [NCIt concept]
- BARD1 Signaling Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
- Homologous Recombination Pathway [NCIt concept]
- Telomerase Regulation Pathway [NCIt concept]
gene_product_is_physical_part_of
- MRE11/RAD50 Double-Strand Break Repair Complex [NCIt concept]
gene_product_malfunction_associated_with_disease
- Acute Lymphoblastic Leukemia [NCIt concept]
- Nijmegen Breakage Syndrome [NCIt concept]
gene_product_plays_role_in_biological_process
- Apoptosis [NCIt concept]
- Cell Cycle Checkpoint [NCIt concept]
- DNA Recombination Process [NCIt concept]
- DNA Repair [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Telomere Maintenance [NCIt concept]
- V(D)J Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

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