BUB1 Gene Summary [Human]

This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Details

Type
Protein Coding
Official Symbol
BUB1
Official Name
BUB1 mitotic checkpoint serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:1148]
Ensembl ID
ENSG00000169679
Bio databases IDs NCBI: 699 Ensembl: ENSG00000169679
Aliases BUB1 mitotic checkpoint serine/threonine kinase
Synonyms BUB1A, BUB1L, BUB1 mitotic checkpoint serine/threonine kinase, BUB1, mitotic checkpoint serine/threonine kinase, D2Xrf87, hBUB1, MCPH30
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BUB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • kinase
  • protein serine/threonine kinase
  • protein kinase
  • Mad3/BUB1 homology region 1
  • Protein Kinases, catalytic domain
  • protein binding
  • enzyme
  • tetratricopeptide repeat

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • epithelial neoplasia
  • digestive system cancer
  • abdominal cancer
  • cancer
  • epithelial cancer
  • Alzheimer disease
  • organismal death
  • prostate cancer
  • non-small cell lung cancer
regulated by
regulates
role in cell
  • apoptosis
  • cell death
  • proliferation
  • growth
  • number
  • mitosis
  • missegregation
  • cell cycle progression
  • abnormal morphology
  • survival

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • intracellular membrane-bounded organelle
  • Cytoplasm
  • cytosol
  • nucleoplasm
  • mitotic spindle
  • kinetochores
  • centromeres

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BUB1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mitotic cell cycle spindle assembly checkpoint
  • regulation of chromosome segregation
  • cell division
  • chromatin remodeling
  • regulation of sister chromatid cohesion
  • apoptotic process
  • chromosome segregation
  • positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric
  • meiotic sister chromatid cohesion, centromeric

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • intracellular membrane-bounded organelle
  • membrane
  • cytosol
  • kinetochore
  • condensed chromosome outer kinetochore
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • protein binding
  • protein kinase activity
  • protein serine/threonine kinase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.