BAP1 wt Allele

Preferred Label : BAP1 wt Allele;

NCIt synonyms : BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase) wt Allele; KIAA0272; HUCEP-6; HUCEP-13; UCHL2;

NCIt definition : Human BAP1 wild-type allele is located in the vicinity of 9q22.31 and is approximately 148 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase BAP1 protein, plays a role in tumor suppression. Homozygous BAP1 intragenic rearrangements and allelic deletions occur in lung carcinoma.;

NCIt note : Murine BAP1 and BRCA1 are co-expressed during breast development and remodeling. BAP1 interacts with the BRCA1 RING finger, prevented by RING finger germline mutations. BAP1 may be a tumor suppressor in the BRCA1 growth control pathway and enhances BRCA1 inhibition of breast cancer cell growth.;

GenBank Accession Number : NM_004656;

Details

Origin ID

C51102;

UMLS CUI

C1706877;

Automatic exact mappings (from CISMeF team)
- BRCA1 associated protein 1 [ORDO Gene]
OMIM relation
- Brca1-associated 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_has_physical_location
- 3: 52419049-52410067 [NCIt concept]
gene_in_chromosomal_location
- 3p21.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- BAP1 Tumor Predisposition Syndrome [NCIt concept]
- BAP1-Inactivated Skin Melanocytic Neoplasm [NCIt concept]
- BAP1-Mutant Clear Cell Renal Cell Carcinoma [NCIt concept]
- Cutaneous Melanoma [NCIt concept]
- Uveal Melanoma [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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