From NCBI Gene: Carcinoma of colonMosaic variegated aneuploidy syndromePremature chromatid separation traitFrom UniProt: Premature chromatid separation trait (PCS): Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. [MIM:176430] Mosaic variegated aneuploidy syndrome 1 (MVA1): A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. [MIM:257300] Defects in BUB1B are associated with tumor formation.

     From NCBI Gene: This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008] From UniProt: Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression.

The following transcription factors affect gene expression:

• PPAR-gamma1
• PPAR-gamma2
• MEF-2A
• HNF-4alpha1
• HNF-4alpha2
• MRF-2
• YY1
• AREB6

Tissue specificity:

Highly expressed in thymus followed by spleen. Preferentially expressed in tissues with a high mitotic index.

Induction:

Induced during mitosis.

Enzyme Regulation:

Kinase activity stimulated by CENPE.

Molecular Function:

• Protein Serine/Threonine Kinase Activity
• Atp Binding

Biological Processes:

• Apoptotic Process
• Sister Chromatid Cohesion
• Mitotic Nuclear Division
• Metaphase/Anaphase Transition Of Mitotic Cell Cycle
• Mitotic Cell Cycle Checkpoint
• Mitotic Spindle Assembly Checkpoint
• Cell Proliferation
• Anaphase-Promoting Complex-Dependent Catabolic Process
• Protein Localization To Kinetochore
• Protein Ubiquitination Involved In Ubiquitin-Dependent Protein Catabolic Process
• Proteasome-Mediated Ubiquitin-Dependent Protein Catabolic Process
• Cell Division
• Negative Regulation Of Ubiquitin-Protein Ligase Activity Involved In Mitotic Cell Cycle
• Positive Regulation Of Ubiquitin-Protein Ligase Activity Involved In Regulation Of Mitotic Cell Cycle Transition