Biomarker: Bub1

Histology type: endometrial carcinoma

Country: China

Region: Shandong

Study type: retrospective study

Followed up time :

Subgroup 1 name : negative in normal endometrial

Subgroup 1 number: 4

Subgroup 2 name: positive in normal endometrial

Subgroup 2 number: 26

Conclusion: The combination analysis of Bub1 and Mad2 might be the valuable diagnostic clinicopathologic factor which can be applicable in routine examination.

Sample type : tissue

Sample method: indirect streptavidin-biotin-peroxidase complex method

Expression pattern : Bub1 negative and Mad2 positive

Expression elevation: Immunohistochemical staining was scored as follows: -, no positive staining or lower than 10 %;+, 11- 30 % positive staining; ++, 31-50 % positive staining;+++, positive staining more than 50 %.

Funtion Uniprot: Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Required for centromeric enrichment of AUKRB in prometaphase. Plays an important role in defining SGO1 localization and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis.

UniProt ID: O43683

UniProt Link: https://www.uniprot.org/uniprotkb/O43683/entry

Biological function from UniProt: #Apoptosis #Cell cycle #Cell division #Chromosome partition #Host-virus interaction #Mitosis

Molecular function from UniProt:

Tissue specificity from UniProt: High expression in testis and thymus, less in colon, spleen, lung and small intestine. Expressed in fetal thymus, bone marrow, heart, liver, spleen and thymus. Expression is associated with cells/tissues with a high mitotic index.

Subcellular UniProt: #Centromere #Chromosome #Kinetochore #Nucleus

Alternative name from UniProt:

Catalytic activity: ATP + L-seryl-[protein] = ADP + H+ + O-phospho-L-seryl-[protein]

Activity regulation: Autophosphorylated when the cells enters mitosis.

Recommended name: Mitotic checkpoint serine/threonine-protein kinase BUB1

Gene name from HGNC: BUB1 (BUB1A, BUB1L, hBUB1)

HPA class: Enzymes Metabolic proteins

AlphaFold DB: O43683

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/O43683

Induction: Inhibited by phorbol 12-myristate 13-acetate (PMA).

HPA link: https://www.proteinatlas.org/ENSG00000169679-BUB1

Tissue specificity RNA from HPA: Group enriched (bone marrow, lymphoid tissue, testis)

Single cell type specificity Cell type enhanced (Spermatocytes, Granulosa cells, Plasma cells, Erythroid cells, Spermatogonia)

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Nucleoplasm, Cytosol (Single cell variability, CCD Transcript)

Cancer prognostic summary HPA Prognostic marker in liver cancer (unfavorable), pancreatic cancer (unfavorable), endometrial cancer (unfavorable) and lung cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000169679-BUB1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000169679-BUB1/pathology/endometrial+cancer

OMIM: 602452

OMIM link2: https://www.omim.org/entry/602452

HGNC ID: HGNC:1148

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1148