BUB1 - BUB1 mitotic checkpoint serine/threonine kinase Gene

Homo sapiens

Also known as BUB1A; BUB1L; hBUB1

Gene ID: 699 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

Pkinase

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BUB1	O43683	KNL1	Homo sapiens	Q8NG31	Anti Tag CoIP	33961781
Intra	BUB1	O43683	KNL1	Homo sapiens	Q8NG31	TAP	20360068
Intra	BUB1	O43683	KNL1	Homo sapiens	Q8NG31	Anti Bait CoIP	22660415
Intra	BUB1	O43683	BUB1B	Homo sapiens	O60566	Y2H Array	31515488
Intra	BUB1	O43683	BUB1B	Homo sapiens	O60566	Anti Tag CoIP	33961781
Intra	BUB1	O43683	BUB1B	Homo sapiens	O60566	TAP	20360068
Intra	BUB1	O43683	BUB3	Homo sapiens	O43684	Y2H Array	25416956
Intra	BUB1	O43683	BUB3	Homo sapiens	O43684	Y2H Array	21988832
Intra	BUB1	O43683	BUB3	Homo sapiens	O43684	Anti Tag CoIP	33961781
Intra	BUB1	O43683	KNL1	Homo sapiens	Q8NG31-2	Anti Tag CoIP	26496610
Intra	BUB1	O43683	KNL1	Homo sapiens	Q8NG31-2	Anti Tag CoIP	28514442
Intra	BUB1	O43683	KNL1	Homo sapiens	Q8NG31-2	Y2H	19141287
Intra	BUB1	O43683	ARIH2	Homo sapiens	O95376	Y2H Pooling	16189514
Intra	BUB1	O43683	ARIH2	Homo sapiens	O95376	Y2H Array	31515488
Intra	BUB1	O43683	ARIH2	Homo sapiens	O95376	Validated Y2H	32296183
Intra	BUB1	O43683	CRK	Homo sapiens	P46108	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103020	BAY-1816032	Inhibitor	99.05%	Unkown
HY-104001	BAY-524	Inhibitor	99.48%	Unkown
HY-102081	2OH-BNPP1		99.65%	Unkown
HY-104000	BAY-320	Inhibitor	99.74%	Unkown
HY-RS01681	BUB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01682	BUB1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-161865	Antitumor agent-180	Inducer	/	Unkown

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

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