1. Gene
  2. BUB1 - BUB1 mitotic checkpoint serine/threonine kinase Gene

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

BUB1 Protein Structure

Mad3_BUB1_I

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

Pkinase

Pkinase: Protein kinase domain (790 - 1004)

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  • 1000
  • 1085 a.a.
Protein Preferred Names Protein Names

mitotic checkpoint serine/threonine-protein kinase BUB1

BUB1 budding uninhibited by benzimidazoles 1 homolog

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