TP53BP1 wt Allele

Preferred Label : TP53BP1 wt Allele;

NCIt synonyms : MGC138366; 53BP1; p202; FLJ41424; Tumor Protein p53 Binding Protein 1 wt Allele; Tumor Protein 53-Binding Protein, 1 Gene; TDRD30; p53BP1; Tumor Protein p53-Binding Protein, 1 Gene;

NCIt definition : Human TP53BP1 wild-type allele is located in the vicinity of 15q15.3 and is approximately 103 kb in length. This allele, which encodes TP53-binding protein 1, may be involved in the regulation of both mitosis and nonhomologous end joining after DNA damage.;

NCIt note : The TP53BP1 gene in conjuction with BRCA1 mutations may be associated in breast tumorigenesis.; TP53BP1 protein is associated with promoting non-homologous end-joining of DNA, a process which may lead to chromosomal rearrangements and gene fusions. Studies published in April 2010 (Cell, April 1, 2010) indicate that suppressing the expression of TP53BP1 can result in restoration of DNA break resolution through homologous recombination.;

GenBank Accession Number : U09477;

Details

Origin ID

C88926;

UMLS CUI

C2982392;

OMIM relation
- Tumor protein p53-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q15.3 [NCIt concept]
gene_is_element_in_pathway
- NOD-Like Receptor Signaling Pathway [NCIt concept]
- Non-Homologous End-Joining Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Checkpoint [NCIt concept]
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- DNA Repair [NCIt concept]
- Nonhomologous DNA End Joining [NCIt concept]

Keyword's position in hierarchy(ies) :

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