BUB1 - BUB1 mitotic checkpoint serine/threonine kinase Gene

Also Known as BUB1A; BUB1L; hBUB1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 699

About BUB1

Cytogenetic location: 2q13 Genomic coordinates (GRCh38): 2:110,637,528-110,678,063 (from NCBI)

This gene has 14 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in testis (RPKM 25.2), lymph node (RPKM 11.3) and 10 other tissues.

Summary

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]

BUB1 Products (3)

mRNA Protein Name
NM_001278616.2 NP_001265545.1 mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2
NM_001278617.2 NP_001265546.1 mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3
NM_004336.5 NP_004327.1 mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables histone H2A kinase activity IDA
IDA: Inferred from direct assay
26658523 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10198256 GOA
enables protein kinase activity IDA
IDA: Inferred from direct assay
18995837 GOA
enables protein kinase activity IMP
IMP: Inferred from mutant phenotype
22331848 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
25308863 GOA
Biological Process GO Annotation Evidence References Source
involved in mitotic spindle assembly checkpoint signaling IMP
IMP: Inferred from mutant phenotype
18995837 GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric IMP
IMP: Inferred from mutant phenotype
25308863 GOA
involved in regulation of chromosome segregation IMP
IMP: Inferred from mutant phenotype
19487456 GOA
involved in regulation of sister chromatid cohesion IDA
IDA: Inferred from direct assay
15723797 GOA
Cellular Component GO Annotation Evidence References Source
located in kinetochore IDA
IDA: Inferred from direct assay
15020684 GOA
part of outer kinetochore IDA
IDA: Inferred from direct assay
22331848 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BUB1 Protein Structure

Mad3_BUB1_I

Mad3_BUB1_I: Mad3/BUB1 homology region 1 (6 - 126)

Pkinase

Pkinase: Protein kinase domain (790 - 1004)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1085 a.a.
Protein Preferred Names Protein Names

mitotic checkpoint serine/threonine-protein kinase BUB1

  • BUB1 budding uninhibited by benzimidazoles 1 homolog

BUB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BUB1 O43683 KNL1 Homo sapiens Q8NG31 33961781
Intra
BUB1 O43683 KNL1 Homo sapiens Q8NG31
TAP
20360068
Intra
BUB1 O43683 KNL1 Homo sapiens Q8NG31 22660415
Intra
BUB1 O43683 BUB1B Homo sapiens O60566 31515488
Intra
BUB1 O43683 BUB1B Homo sapiens O60566 33961781
Intra
BUB1 O43683 BUB1B Homo sapiens O60566
TAP
20360068
Intra
BUB1 O43683 BUB3 Homo sapiens O43684 25416956
Intra
BUB1 O43683 BUB3 Homo sapiens O43684 21988832
Intra
BUB1 O43683 BUB3 Homo sapiens O43684 33961781
Intra
BUB1 O43683 KNL1 Homo sapiens Q8NG31-2 26496610
Intra
BUB1 O43683 KNL1 Homo sapiens Q8NG31-2 28514442
Intra
BUB1 O43683 KNL1 Homo sapiens Q8NG31-2
Y2H
19141287
Intra
BUB1 O43683 ARIH2 Homo sapiens O95376 16189514
Intra
BUB1 O43683 ARIH2 Homo sapiens O95376 31515488
Intra
BUB1 O43683 ARIH2 Homo sapiens O95376 32296183
Intra
BUB1 O43683 CRK Homo sapiens P46108 16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

BUB1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81822 BUB1 Antibody (YA1567) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Mosaic Variegated Aneuploidy Syndrome
  • Warburton-Anyane-Yeboa Syndrome

  • Mva Syndrome

  • Mosaic Variegated Aneuplody Microcephaly Syndrome

  • Warburton Anyane Yeboa Syndrome

Polyploidy
  • Polyploid

  • Polyploidy Syndrome

Prostate Carcinoma In Situ
  • Carcinoma In Situ Of Prostate

  • Grade Iii Pin

  • Pin Iii

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus BUB1 VGNC VGNC:26604
Felis catus BUB1 VGNC VGNC:60210
Macaca mulatta BUB1 VGNC VGNC:70292
Mus musculus BUB1 MGD MGI:1100510
Canis familiaris BUB1 VGNC VGNC:38565
Rattus norvegicus BUB1 RGD RGD:1311707
Others BUB1 NCBI