BUB1B wt Allele

Preferred Label : BUB1B wt Allele;

NCIt synonyms : BUBR1; MVA1; Bub1A; MAD3L; BUB1beta; SSK1; hBUBR1; Budding Uninhibited By Benzimidazoles 1 (Yeast Homolog), Beta Gene; BUB1 Mitotic Checkpoint Serine/Threonine Kinase B wt Allele; Budding Uninhibited By Benzimidazoles 1 Homolog Beta (Yeast) Gene; Mitotic Checkpoint Gene BUB1B; Budding Uninhibited by Benzimidazoles 1, S. cerevisiae, Homolog of, Beta Gene; BUB1, S. cerevisiae, Homolog of, Beta Gene;

NCIt definition : Human BUB1B wild-type allele is located in the vicinity of 15q15 and is approximately 60 kb in length. This allele, which encodes mitotic checkpoint serine/threonine-protein kinase BUB1 beta protein, plays a role in the modulation of protein phosphorylation and mitotic spindle checkpoint control. Mutation of the gene is associated with colorectal cancer, mosaic variegated aneuploidy syndrome and premature chromatid separation trait and may be involved in other carcinomas.;

GenBank Accession Number : AF107297;

Details

Origin ID

C95593;

UMLS CUI

C2987245;

OMIM relation
- Bub1 mitotic checkpoint serine/threonine kinase b [OMIM gene]
See also inter- (CISMeF)
- Mosaic variegated aneuploidy syndrome 1 [OMIM Phenotype]
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 [NCIt concept]
gene_is_element_in_pathway
- Cell Cycle Pathway [NCIt concept]
- PLK1 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Division Process [NCIt concept]
- Mitotic/Spindle Checkpoint [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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