1. Gene
  2. BUB1B - BUB1 mitotic checkpoint serine/threonine kinase B Gene

BUB1B - BUB1 mitotic checkpoint serine/threonine kinase B Gene

中文名称:BUB1 有丝分裂检查点丝氨酸/苏氨酸激酶 B

种属: Homo sapiens

同用名: MVA1; SSK1; BUBR1; Bub1A; MAD3L; hBUBR1; BUB1beta

基因 ID: 701 | 基因类型: protein coding

关于 BUB1B

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,161,069-40,221,123 (from NCBI)

This gene has 11 transcripts (splice variants), 242 orthologues, 1 paralogue and is associated with 67 phenotypes. Biased expression in testis (RPKM 16.5), bone marrow (RPKM 7.5) and 12 other tissues.

功能概要

该基因编码参与纺锤体检查点功能的激酶。该蛋白质已定位于着丝粒,并在抑制后期促进复合物/细胞周期体 (APC/C) 、延迟后期开始并确保适当的染色体分离方面发挥作用。纺锤体检查点功能受损已在多种癌症中被发现。[RefSeq 提供,2008 年 7 月]

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]

BUB1B 基因产物(1)

mRNA Protein Name
NM_001211.6 NP_001202.5 mitotic checkpoint serine/threonine-protein kinase BUB1 beta
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9660858 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitotic spindle assembly checkpoint signaling IDA
IDA: 通过直接分析推断
10477750 GOA
involved in mitotic spindle assembly checkpoint signaling IMP
IMP: 通过突变表型推断
20220147 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
20220147 GOA
colocalizes with kinetochore IDA
IDA: 通过直接分析推断
12925705 GOA
located in kinetochore IDA
IDA: 通过直接分析推断
9660858 GOA
part of mitotic checkpoint complex IPI
IPI: 通过物理相互作用推断
27509861 GOA
part of outer kinetochore IDA
IDA: 通过直接分析推断
19468067 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
20531406 GOA
located in spindle IDA
IDA: 通过直接分析推断
9763420 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BUB1B 蛋白结构

Mad3_BUB1_I

Mad3_BUB1_I: Mad3/BUB1 homology region 1 (55 - 179)

Pkinase

Pkinase: Protein kinase domain (823 - 917)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1050 a.a.
蛋白主名 其他名称

mitotic checkpoint serine/threonine-protein kinase BUB1 beta

BUB1B, mitotic checkpoint serine/threonine kinase

关联疾病

疾病名称 别名
Premature Chromatid Separation Trait

PCS

Total Premature Chromatid Separation Trait

Chromatid Separation Trait, Premature

Mosaic Variegated Aneuploidy Syndrome 1

Mva Syndrome

MVA1

Mosaic Variegated Aneuploidy Syndrome, Type 1

Mosaic Variegated Aneuploidy Syndrome

Congenital Chromosomal Disease

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome

Mva Syndrome

Mosaic Variegated Aneuplody Microcephaly Syndrome

Warburton Anyane Yeboa Syndrome

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

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Rhabdomyosarcoma
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta BUB1B VGNC VGNC:70293
Mus musculus BUB1B MGD MGI:1333889
Canis familiaris BUB1B VGNC VGNC:38566
Felis catus BUB1B VGNC VGNC:81027
Bos taurus BUB1B VGNC VGNC:26605
Rattus norvegicus BUB1B RGD RGD:619791