Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	701
Gene name	BUB1 mitotic checkpoint serine/threonine kinase B
Gene symbol	BUB1B
Synonyms (NCBI Gene)	BUB1betaBUBR1Bub1AMAD3LMVA1SSK1hBUBR1
Chromosome	15
Chromosome location	15q15.1
Summary	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 prope

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SNP ID	Visualize variation	Clinical significance	Consequence
rs56079734	C>T	Pathogenic, benign	Missense variant, coding sequence variant
rs769350713	C>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016386	hsa-miR-193b-3p	Microarray	20304954
MIRT024609	hsa-miR-215-5p	Microarray	19074876
MIRT026320	hsa-miR-192-5p	Microarray	19074876
MIRT050455	hsa-miR-22-3p	CLASH	23622248
MIRT016386	hsa-miR-193b-3p	CLASH	23622248
MIRT827649	hsa-miR-3153	CLIP-seq
MIRT827650	hsa-miR-3168	CLIP-seq
MIRT827651	hsa-miR-3692	CLIP-seq
MIRT827652	hsa-miR-3925-5p	CLIP-seq
MIRT827653	hsa-miR-412	CLIP-seq
MIRT827654	hsa-miR-4255	CLIP-seq
MIRT827655	hsa-miR-4668-5p	CLIP-seq
MIRT827656	hsa-miR-4699-3p	CLIP-seq
MIRT827657	hsa-miR-4719	CLIP-seq
MIRT827658	hsa-miR-4795-3p	CLIP-seq
MIRT827659	hsa-miR-4802-3p	CLIP-seq
MIRT827660	hsa-miR-513b	CLIP-seq
MIRT827661	hsa-miR-520d-5p	CLIP-seq
MIRT827662	hsa-miR-524-5p	CLIP-seq
MIRT827663	hsa-miR-548k	CLIP-seq
MIRT827664	hsa-miR-548n	CLIP-seq
MIRT827650	hsa-miR-3168	CLIP-seq
MIRT1944903	hsa-miR-3922-5p	CLIP-seq
MIRT827653	hsa-miR-412	CLIP-seq
MIRT827657	hsa-miR-4719	CLIP-seq
MIRT1944904	hsa-miR-4753-5p	CLIP-seq
MIRT827660	hsa-miR-513b	CLIP-seq
MIRT827657	hsa-miR-4719	CLIP-seq

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Transcription factor	Regulation	Reference
ZNF143	Activation	17478512

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	12925705, 17363900
GO:0000776	Component	Kinetochore	IDA	9660858, 9763420, 17227893, 19465021, 20220147, 22331848
GO:0000776	Component	Kinetochore	IEA
GO:0000940	Component	Outer kinetochore	IDA	19468067, 22331848
GO:0000940	Component	Outer kinetochore	IEA
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	NAS	9763420
GO:0004672	Function	Protein kinase activity	TAS	10477750
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	9660858, 9763420, 11030144, 15525512, 16760428, 17981135, 19407811, 20212161, 20220147, 20360068, 21300909, 21407176, 21772247, 21988832, 22000412, 22331848, 24581499, 24825348, 25241761, 25383541, 25416956, 25502805, 25852190, 26496610, 29883609, 31515488, 32707033, 33961781, 35271
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005680	Component	Anaphase-promoting complex	TAS	10477750
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	20220147
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	9763420
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007091	Process	Metaphase/anaphase transition of mitotic cell cycle	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IBA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IDA	10477750
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IEA
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IMP	20220147
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	NAS	11535616
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0033045	Process	Regulation of sister chromatid segregation	IEA
GO:0033597	Component	Mitotic checkpoint complex	IPI	27509861
GO:0036064	Component	Ciliary basal body	IDA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20531406
GO:0051301	Process	Cell division	IEA
GO:0051754	Process	Meiotic sister chromatid cohesion, centromeric	IBA
GO:0071459	Process	Protein localization to chromosome, centromeric region	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
602860	1149	ENSG00000156970

O60566

Protein name

Mitotic checkpoint serine/threonine-protein kinase BUB1 beta (EC 2.7.11.1) (MAD3/BUB1-related protein kinase) (hBUBR1) (Mitotic checkpoint kinase MAD3L) (Protein SSK1)

Protein function

Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the

PDB

2WVI , 3SI5 , 4GGD , 5JJA , 5K6S , 5KHU , 5LCW , 5SWF , 6TLJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08311	Mad3_BUB1_I	57 → 179	Mad3/BUB1 homology region 1	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in thymus followed by spleen. Preferentially expressed in tissues with a high mitotic index. {ECO:0000269|PubMed:10593653}.

Sequence

MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKR
AFEYEIRFYTGNDPLDVWDRYISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPR
FLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAEEYEARENFRKADAIFQEGIQ
QKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPM
PRAKENELQAGPWNTGRSLEHRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEP
SINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCKEKIYAGVGEFSFEEIRAEVF
RKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL
QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKK
NKSPPADPPRVLAQRRPLAVLKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVT
ICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLPEEDLDVKTSEDQQTACGTIY
SQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS
PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKL
FWVAPRNSAELTVIKVSSQPVPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYIN
CFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVHGDLSPRCLILRNRIHDPYDC
NKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA
HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMN
GVFDTTFQSHLNKALWKVGKLTSPGALLFQ

Sequence length

1050

Interactions

View interactions

	KEGG		Reactome
	Cell cycle Human T-cell leukemia virus 1 infection		Inactivation of APC/C via direct inhibition of the APC/C complex Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Cdc20:Phospho-APC/C mediated degradation of Cyclin A APC/C:Cdc20 mediated degradation of mitotic proteins APC-Cdc20 mediated degradation of Nek2A Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

1055

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mosaic variegated aneuploidy syndrome	Likely pathogenic	rs1290506364	RCV001526801
Mosaic variegated aneuploidy syndrome 1	Likely pathogenic; Pathogenic	rs2037726277, rs1455613910, rs2037326125, rs746135465, rs2140908210, rs770262148, rs2140878554, rs2140912326, rs2140900203, rs2140890776, rs200884355, rs2140906206, rs2037228249, rs2140904074, rs2140900652 View all (43 more)	RCV001377149 RCV001387142 RCV001388465 RCV001383289 RCV001730039 RCV001775445 RCV001881383 RCV001932431 RCV001922535 RCV002000022 RCV001990050 RCV001939359 RCV002014132 RCV001955723 RCV001915608 RCV001909512 RCV001882210 RCV003058701 RCV003075178 RCV003095619 RCV002615957 RCV002647985 RCV002624350 RCV002658913 RCV002761264 RCV002889735 RCV003009147 RCV000007152 RCV000007158 RCV000007166 RCV000007168 RCV000007170 RCV003142377 RCV003230326 RCV003507615 RCV003508695 RCV003507124 RCV003506986 RCV003618534 RCV003619085 RCV003619062 RCV003876989 RCV000464463 RCV000500457 RCV000505636 RCV000641226 RCV002233269 RCV002232977 RCV003507310 RCV002234183 RCV001055671 RCV001053809 RCV001059973 RCV001070312 RCV001218336 RCV001209103 RCV001232377 RCV001232097 RCV001880163
Premature chromatid separation trait	Pathogenic; Likely pathogenic	rs2140908210, rs28989186, rs1392909108, rs1566824774, rs1566826570, rs1566824771, rs2037226022	RCV001730040 RCV000007153 RCV000007159 RCV000007167 RCV000007169 RCV000007171 RCV001294085

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs1555383138	RCV005931342
BUB1B-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1233769017, rs147549987, rs771602632, rs141013408, rs2084170598, rs2542557194, rs146387899, rs34700927, rs201251790, rs1595514579	RCV003980454 RCV003935141 RCV003407886 RCV003919941 RCV003898946 RCV003976368 RCV003912794 RCV004754434 RCV003962516 RCV003968404
Carcinoma of colon	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs146795655, rs148159407, rs141953425, rs56079734, rs138332995, rs770704003, rs373256667, rs1407334063	RCV000765204 RCV000763965 RCV000763966 RCV000007150 RCV000765205 RCV000765203 RCV000763967 RCV000763964
Cerebral palsy	Uncertain significance	rs2140900967	RCV001796585
Cervical cancer	Likely benign	rs748758973	RCV005927820
Cholangiocarcinoma	Benign; Likely benign	rs200483866	RCV005898431
Colorectal cancer	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs760085736, rs776363221, rs755941900, rs368023159, rs146795655, rs1801528, rs34998711, rs1017842, rs771602632, rs779260067, rs74499462, rs2037634640, rs56079734, rs28989181, rs28989183 View all (35 more)	RCV002486351 RCV002493852 RCV005005878 RCV005008019 RCV005008020 RCV003315739 RCV003315740 RCV003315741 RCV005006144 RCV005008337 RCV002508093 RCV005008576 RCV002482837 RCV002504759 RCV005007832 RCV002482838 RCV003316161 RCV003316250 RCV003316249 RCV003316390 RCV003316388 RCV003316383 RCV003316384 RCV003316385 RCV003316386 RCV003316387 RCV003316389 RCV005013069 RCV005007890 RCV002481362 RCV005010331 RCV003316575 RCV001197272 RCV005010332 RCV005010333 RCV002476149 RCV005010507 RCV003316706 RCV005010508 RCV003316707 RCV005010622 RCV005010621 RCV002477614 RCV005012357 RCV005012358 RCV005012475 RCV005012510 RCV002504282 RCV005012615 RCV005012732
Gastric cancer	Benign	rs568800	RCV005911468
Lung cancer	Uncertain significance	rs770077868, rs781357180	RCV005900204 RCV005902030
Malignant tumor of esophagus	Benign	rs568800	RCV005911466
Microcephaly	Conflicting classifications of pathogenicity	rs143232848	RCV001252831
Ovarian cancer	Conflicting classifications of pathogenicity; Benign	rs971891189, rs2542594393, rs896037493, rs557521971, rs774654439	RCV003154255 RCV003154677 RCV003154788 RCV003153823 RCV003153860
Ovarian serous cystadenocarcinoma	Likely benign	rs1555383138, rs756307061	RCV005931343 RCV005901732
Sarcoma	Benign	rs568800	RCV005911467
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs778645750, rs141013408, rs763623522	RCV002253096 RCV002252060 RCV002252130
Thymoma	Benign	rs568800	RCV005911469
Uterine carcinosarcoma	Benign; Likely benign	rs200483866	RCV005898430
Uterine corpus endometrial carcinoma	Benign	rs149346266	RCV005915222

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	34252262
Adenocarcinoma of Lung	Associate	32121037, 33126397, 33148251, 34039308, 34304612, 36451444, 37228122, 40076684
Adenocarcinoma of Lung	Stimulate	35068350
Aneuploidy	Associate	15475955, 17322345, 18699967, 20132214, 20516114, 21190457, 24156017, 25789401, 26354767, 26608463, 35804254
Aural Atresia Congenital	Associate	33431813
Breast Neoplasms	Associate	23392733, 23497539, 26191236, 27165245, 31285741, 31895772, 33285689, 33499770, 34384030, 35456460, 35493295
Carcinogenesis	Associate	17322345, 24156017
Carcinoma Adenoid Cystic	Associate	37861550
Carcinoma Hepatocellular	Associate	22997493, 29728556, 29843214, 31737652, 31822116, 32627011, 32715976, 32769939, 34257537, 34603487, 34961841, 35493295, 36002253, 36317111, 36553600, 37861550 View all (1 more)
Carcinoma Hepatocellular	Stimulate	30363964
Carcinoma Non Small Cell Lung	Associate	32795325, 33126319
Carcinoma Ovarian Epithelial	Associate	19603021, 34794761
Carcinoma Pancreatic Ductal	Associate	30765611
Carcinoma Renal Cell	Associate	18791270, 32309427, 34606125, 35339898, 36793506, 39818011
Carcinosarcoma	Associate	36186000
Cholangiocarcinoma	Associate	33431813
Chromosomal Instability	Associate	18791270, 21670593, 32337580
Chromosome Disorders	Associate	20516114
Colitis Associated Neoplasms	Associate	17322345
Colitis Ulcerative	Associate	17322345
Colorectal Neoplasms	Associate	18699967, 40018943
Congenital contractural arachnodactyly	Stimulate	33431813
COVID 19	Associate	36389792, 39259097
Dermatitis Atopic	Associate	36543921
Drug Related Side Effects and Adverse Reactions	Associate	21340606
Endometrial Neoplasms	Associate	36186000, 37853361
Esophageal Neoplasms	Associate	19558549
Esophageal Squamous Cell Carcinoma	Associate	31485619
Gallbladder Neoplasms	Associate	18497548
Genetic Diseases Inborn	Associate	35804254
Gingival Neoplasms	Associate	26151845
Glioblastoma	Associate	28855212, 29039578, 32467990
Glioma	Associate	22022424
Heart Failure	Associate	34868339
Hematologic Diseases	Associate	31053147
Hepatitis B	Associate	33102593
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22759382
Hypoxia	Associate	33148251
Inflammation	Associate	37861550, 40076684
Leukemia Lymphocytic Chronic B Cell	Associate	16574953
Leukemia Myeloid Acute	Associate	30480765, 37002311
Leukoplakia Oral	Associate	34704983
Liver Cirrhosis	Associate	37861550
Lung Neoplasms	Associate	40076684
Lymphatic Metastasis	Stimulate	20132214
Melanoma	Associate	18501396
Mosaic variegated aneuploidy syndrome	Associate	20516114, 31053147, 35804254
Myelodysplastic Syndromes	Associate	31053147
Nasopharyngeal Carcinoma	Associate	35509856
Nasopharyngeal Carcinoma	Stimulate	36577966
Necrosis	Associate	37861550
Neoplasm Metastasis	Stimulate	20132214
Neoplasm Metastasis	Associate	23392733, 27165245, 31285741, 37228122
Neoplasms	Associate	15159543, 15475955, 18791270, 20516114, 20603598, 21190457, 22759382, 25483095, 26191236, 29039578, 29641532, 30363964, 30765611, 31871312, 32035007 View all (10 more)
Neoplasms	Stimulate	32121037, 37228122, 40076684
Neoplasms	Inhibit	37848946
Neoplasms Germ Cell and Embryonal	Associate	28553959
Neoplasms Squamous Cell	Associate	26151845
Neurofibrosarcoma	Associate	23370767
Ovarian Diseases	Associate	36186000
Ovarian Neoplasms	Associate	31010415, 31871312, 31987036, 33493131, 34253236, 37304238
Pancreatic Neoplasms	Associate	28767289, 36896836
Prostatic Neoplasms	Associate	25519703, 33115829, 34497666, 34512870, 35409038, 36245843, 36834602
Retinal Dysplasia	Associate	34704983
Rhabdomyosarcoma Embryonal	Associate	15475955
Sarcoma	Associate	33872216, 35493295
Sepsis	Associate	39259097
Sertoli Cell Only Syndrome	Associate	37500704
Small Cell Lung Carcinoma	Associate	33186389
Squamous Cell Carcinoma of Head and Neck	Associate	26151845
Stomach Neoplasms	Associate	20132214, 25483095, 33446695, 37848946
Testicular Neoplasms	Associate	32715976
Thyroid Carcinoma Anaplastic	Associate	30213925
Thyroid Neoplasms	Associate	18383837
Urinary Bladder Neoplasms	Associate	29246203, 36529823
Urinary Bladder Neoplasms	Stimulate	33217824

BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)