V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

BUB1B Gene

protein-coding GIFtS: 66

GC15P038240

budding uninhibited by benzimidazoles 1 homolog beta (yeast)
(Previous names: budding uninhibited by benzimidazoles 1 (yeast homolog), beta )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
BUB1beta ^²
BUBR1 ^¹, ², ³, ⁵
Bub1A ^¹, ²
EC 2.7.11.1 ^³
MAD3L ^¹, ², ³
SSK1 ^¹, ², ³
hBUBR1 ^², ³

Descriptions
BUB1 budding uninhibited by benzimidazoles 1 homolog beta ^²
MAD3/BUB1-related protein kinase ^², ³
Mitotic checkpoint kinase MAD3L ^³
Protein SSK1 ^³
budding uninhibited by benzimidazoles 1 (yeast homolog), beta ^¹
budding uninhibited by benzimidazoles 1 beta ^²
budding uninhibited by benzimidazoles 1 homolog beta (yeast) ^²
budding uninhibited by benzimidazoles 1, beta ^²

External Ids
HGNC: 1149¹
Entrez Gene: 701²
UniProtKB: O60566³
Ensembl: ENSG00000156970⁷

Search outside databases for aliases for BUB1B gene

Previous GC identifers: GC15P035820 GC15P033348 GC15P038032 GC15P038169

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for BUB1B:

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]

UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566

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 activity of the anaphase-promoting

complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase

activity. The other is to monitor kinetochore activities that depend on the kinetochore motor

CENPE. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from

mitotic arrest. May play a role for tumor suppression

Gene Wiki entry for BUB1B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the BUB1B gene

Entrez Gene cytogenetic band: 15q15 Ensembl cytogenetic band: 15q15.1 HGNC cytogenetic band: 15q15

BUB1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P038240: (about GC identifiers)

Start:	38,240,530 bp from pter
End:	38,300,629 bp from pter
Size:	60,100 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000015.8 NT_010194.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566 (See protein sequence)

Recommended Name: Mitotic checkpoint serine/threonine-protein kinase BUB1 beta

Size: 1050 amino acids; 119545 Da

Subunit: Interacts with CENPE, CENPF, mitosin and BUB3. Part of a complex containing BUB3, CDC20

and BUB1B. Interacts with anaphase-promoting complex/cyclosome (APC/C)

Subcellular location: Cytoplasm. Nucleus. Kinetochore. Note=Cytoplasmic in interphase cells.

Associates with the kinetochores in early prophase

Secondary accessions: B2R6U0 B4DL09 B4DLG3 O60501 O60627 O60758 O75389 Q59HH6 Q8WV50 Q96KM4

Alternative splicing: 3 isoforms: O60566-1 O60566-2 O60566-3

Post-translational modifications:

Proteolytically cleaved by caspase-3 in a cell cycle specific manner. The cleavage might be

involved in the durability of the cell cycle delay. Caspase-3 cleavage is associated with

abrogation of the mitotic checkpoint. The major site of cleavage is at Asp-610¹

Ubiquitinated (Probable). Degradated by the proteasome¹

Autophosphorylated in vitro. Intramolecular autophosphorylation is stimulated by CENPE.

Phosphorylated during mitosis and hyperphosphorylated in mitotically arrested cells¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_001202.4

ENSEMBL proteins:

ENSP00000287598

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich AQUA Peptides for BUB1B
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (BubR1)
	Human Recombinant Proteins from Abnova (BUB1B)

OriGene Purified Recombinant Human Protein: BUB1B

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000940	outer kinetochore of condensed chromosome	IEA	--
GO:0005634	nucleus	IEA	--
GO:0005680	anaphase-promoting complex	TAS	10477750
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	EXP	11285280 11535616 11742988

About this table

Antibodies for BUB1B:

	Invitrogen Antibodies for BUB1B
	Millipore Mono- and Polyclonal Antibodies for the study of BUB1B
	Sigma-Aldrich Antibody Arrays and Antibodies for BUB1B
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for BUB1B
	Antibodies from Abcam (BubR1), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for BUB1B

Assays for BUB1B:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry O60566

ProtoNet protein and cluster: O60566

UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566

Domain: The CD1 domain directs kinetochore localization and binding to BUB3

Domain: The D-box targets the protein for rapid degradation by ubiquitin-dependent proteolysis

during the transition from mitosis to interphase (Potential)

Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1

subfamily

Similarity: Contains 1 CD1 domain

Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BUB1B)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BUB1B)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001211

Applied Biosystems Silencer® siRNAs for BUB1B

Sigma-Aldrich siRNA and siRNA Panels for BUB1B

Sigma-Aldrich shRNA Panels and shRNA for BUB1B

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for BUB1B
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_001211
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001211
untagged cDNA clone in CMV expression vector: NM_001211

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001211

UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566

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 activity of the anaphase-promoting

complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase

activity. The other is to monitor kinetochore activities that depend on the kinetochore motor

CENPE. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from

mitotic arrest. May play a role for tumor suppression

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme regulation: Kinase activity stimulated by CENPE

Induction: Induced during mitosis

Enzyme Number (IUBMB): EC 2.7.11.1

Genatlas biochemistry entry for BUB1B:

budding inhibited by benzidimidazoles,spindle assembly checkpoint gene 1,homolog of yeast

Bub1p,expressed in testis and thymus,colon and small intestine,modulating the timing of anaphase

initiation in mitotic cells with improperly aligned chromosomes,mutated in colorectal and other

cancers

15 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Bub1b):

adipose tissue	cellular	embryogenesis	growth/size	hematopoietic system
homeostasis/metabolism	immune system	lethality-prenatal/perinatal	life span-post-weaning/aging	muscle
reproductive system	skeleton	skin/coat/nails	tumorigenesis	vision/eye

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004674	protein serine/threonine kinase activity	IEA	--
GO:0005515	protein binding	IPI	9763420
GO:0005524	ATP binding	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for BUB1B

5/156 Interacting proteins for BUB1B (O60566¹ ENSP00000287598³) via UniProtKB, MINT, and/or STRING (see all 156 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDC20	Q12834¹, ENSP00000308450³	EBI-1001438, EBI-367462 STRING (score=.999)
CENPE	Q02224¹, ENSP00000265148³	EBI-1001438, EBI-1375040 STRING (score=.997)
BUB1	ENSP00000302530³	STRING (score=.999)
BUB3	ENSP00000357858³	STRING (score=.999)
PLK1	ENSP00000300093³	STRING (score=.996)

About this table

5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptosis	IEA	--
GO:0007051	spindle organization	NAS	15504738
GO:0007067	mitosis	NAS	9763420
GO:0007093	mitotic cell cycle checkpoint	TAS	10477750
GO:0008283	cell proliferation	TAS	10477750

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BUB1B

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BUB1B)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BUB1B)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001211

Sigma-Aldrich siRNA and siRNA Panels for BUB1B

Sigma-Aldrich shRNA Panels and shRNA for BUB1B

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001211

REFSEQ mRNAs for BUB1B gene:

NM_001211.5

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001211

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001211
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001211
                                 untagged cDNA clone in CMV expression vector: NM_001211

Additional cDNA sequence:

AB208782.1 AF035933.1 AF046079.2 AF046918.1 AF053306.1 AF068760.1 AF107297.1 AK296795.1

AK296984.1 AK312709.1 BC018739.1

10 DOTS entries:

DT.316223 DT.100724762 DT.121026504 DT.121026472 DT.91741298 DT.100718599 DT.102832111 DT.121026523

DT.91741296 DT.95341945

24/139 AceView cDNA sequences (see all 139 ):

T24747 AA251909 BU155180 BM819116 BQ929588 AA334907 AW452190 BF514149

AA024423 AA194971 BX281299 AA252443 CA414260 AA715728 BM982938 CB160922

AA488460 CA418173 BE882850 NM_001211 AA358471 AI954788 BC018739 BU195374

highest scoring ESTs for BUB1B:

AF046918 AA024423 AA194971 AA195039 AA236861 AA251909 AA252443 AA379706 AA431252 AA447460

Unigene Cluster for BUB1B:

Budding uninhibited by benzimidazoles 1 homolog beta (yeast)

Hs.631699 [show with all ESTs]

Unigene Representative Sequence: NM_001211

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for BUB1B (see all 9 )

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16	^	17	^
SP1:									-																				-		-				-		-								-
SP2:																									-		-		-		-		-		-		-								-
SP3:
SP4:
SP5:							-		-

ExUns:	18a	·	18b	^	19a	·	19b	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^	27
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for BUB1B

1 Ensembl transcript including schematic representation:

ENST00000287598

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

BUB1B expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BUB1B

¹ / ² / ³

4 probe-sets matching BUB1B gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
35699_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.03	AF046918	1.00	1.00	1.00	1
73477_at²^{, 3}	U95-D	1	0.44	1.00	0.30	1.02	AI493515	0.60	1.00	0.82	1
203755_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001211	0.60	1.00	0.82	1
203755_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks BUB1B for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TATTTTGTAA

SOURCE GeneReport for Unigene cluster: Hs.631699
Expression variation in blood from EXPOLDB for BUB1B
UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566
Tissue specificity: Highly expressed in thymus followed by spleen. Preferentially expressed in
tissues with a high mitotic index

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for BUB1B gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BUB1B¹	--	budding uninhibited by benzimidazoles 1 homolog beta more	90.98(n) 88.85(a)	608350 XM_845350.1 XP_850443.1
chimpanzee (Pan troglodytes)	BUB1B¹	--	budding uninhibited by benzimidazoles 1 homolog beta more	99.79(n) 99.79(a)	453324 XM_510299.2 XP_510299.2
cow (Bos taurus)	BUB1B¹	--	budding uninhibited by benzimidazoles 1 homolog beta more	90.78(n) 88.94(a)	537027 XM_617181.3 XP_617181.3
rat (Rattus norvegicus)	Bub1b¹	--	budding uninhibited by benzimidazoles 1 homolog, beta more	81.71(n) 78.45(a)	171576 XM_342494.3 XP_342495.3
mouse (Mus musculus)	Bub1b^{1, 5}	2⁵	budding uninhibited by benzimidazoles 1 homolog, beta more^{1, 5}	80.57(n)¹ 77.06(a)¹	12236¹ NM_009773.2¹ NP_033903.1¹ AF107296⁵ AI465548⁵ (see all 17)

About this table Species with no ortholog for BUB1B

ENSEMBL Gene Tree for BUB1B

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for BUB1B gene

BUB1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/333 NCBI SNPs in BUB1B are shown (see all 333 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 134)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1031963^1,2	A,C,F,H,O	38239074(+)	`GACTTT/CGATGT`	1	--	ng5¹ tfbs³		12	EU EA WA NA	2458
	rs1801376^1,2	A,C,F,H,O	38265123(+)	`TGCACG/AACAGC`	1	R/Q	mis¹ ese³		16	EA NA EU WA	2782
	rs1031964^1,2	A,C,F,O	38239296(+)	`AATAAG/ACCAAC`	1	--	ng5¹		5	NA	324
	rs3759839^1,2	A,C,F,H	38238880(+)	`CAAACA/GCTACG`	1	--	ng5¹		8	EA NA EU WA	2050
	rs2277559^1,2	A,C,F,H	38240599(+)	`CGTGTA/GCGTGC`	1	--	ut5¹ ese³		8	EA NA EU WA	2014
	rs7162428^1,2	C,F,H	38240254(+)	`CTCCCA/CACACT`	1	--	ng5¹		4	EU EA WA	420
	rs1017842^1,2	C,F,H	38276149(-)	`TTCTCC/GTCAGA`	1	E/D	mis¹ ese³ trp³		15	NA EA MN EU WA	1404
	rs3759843^1,2	C,F,H	38240367(+)	`CCTAAG/ACCTGC`	1	--	ng5¹		8	EU EA WA	840
	rs497215^1,2	F,H	38240446(+)	`ACAGGC/AATAAA`	1	--	ng5¹		4	EU EA WA	418
	rs11070255^1,2	A,H	38300876(+)	`TATACA/GTGGCT`	1	--	ng3¹		3	EU EA	294

About this table

HapMap Linkage Disequilibrium images for BUB1B (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 602860 disorders: 114500 257300 176430

UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566

Defects in BUB1B are associated with tumor formation

Defects in BUB1B are the cause of premature chromatid separation trait (PCS) [MIM:176430].

PCS consists of separate and splayed chromatids with discernible centromeres and involves all or

most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes

from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is

known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have

reported decreased fertility. Inheritance is autosomal dominant

Defects in BUB1B are the cause of mosaic variegated aneuploidy syndrome (MVA)

[MIM:257300]. MVA is a severe autosomal recessive developmental disorder characterized by mosaic

aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and

tissues. The proportion of aneuploid cells varies but is usually more than 25% and is

substantially greater than in normal individuals. Affected individuals typically present with

severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable

developmental delay, and a broad spectrum of additional congenital abnormalities and medical

conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and

leukemia reported in several cases. MVA is caused by biallelic mutations in the BUB1B gene

10/13 Novoseek disease relationships for BUB1B gene (see all 13 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
microcephaly	45.43	2	18932004 (1)
microsatellite instability	44.74	2	10960763 (2)
cancer	39.46	21	18691855 (3), 12445743 (2), 17991869 (2), 17464181 (2) (see all 11)
colon adenocarcinoma	26.11	1	14706340 (1)
colorectal cancer	21.89	1	11782350 (1)
colon cancer	20.75	2	15000146 (1), 10835495 (1)
chromosomal aberrations	14.49	1	10960763 (1)
tumors	13.18	29	17350465 (3), 17242465 (2), 14744753 (2), 18791270 (2) (see all 12)
cancer lung	7.41	9	10835495 (6), 11146226 (2), 12445743 (1)
breast cancer	2.02	10	16428479 (2), 10773412 (1), 17268814 (1)

About this table

Human Gene Mutation Database: BUB1B
Human Genome Epidemiology Navigator: BUB1B (4 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/146 PubMed articles for BUB1B gene (see all 146 ):

The mouse mitotic checkpoint gene bub1b, a novel bub1 family member, is expressed in a cell cycle-dependent manner. (PubMed id 9889005)^{1, 2, 3, 4} Davenport J.W.... Goorha R. (1999)
Caspase-mediated specific cleavage of BubR1 is a determinant of mitotic progression. (PubMed id 16227576)^{1, 3, 4} Kim M....Kao G.D. (2005)
Human BUBR1 is a mitotic checkpoint kinase that monitors CENP-E functions at kinetochores and binds the cyclosome/APC. (PubMed id 10477750)^{1, 3, 4} Chan G.K.... Yen T.J. (1999)
BUBR1 phosphorylation is regulated during mitotic checkpoint activation. (PubMed id 10593653)^{1, 3, 4} Li W.... Dai W. (1999)
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. (PubMed id 16411201)^{1, 3, 4} Matsuura S.... Kajii T. (2006)
Dual roles of human BubR1, a mitotic checkpoint kinase, in the monitoring of chromosomal instability. (PubMed id 14706340)^{1, 3, 4} Shin H.J.... Lee C.W. (2003)
Mad2-independent inhibition of APC/Cdc20 by the mitotic checkpoint protein BubR1. (PubMed id 11702782)^{1, 3, 4} Tang Z.... Yu H. (2001)
The human homologue of Bub3 is required for kinetochore localization of Bub1 and a Mad3/Bub1-related protein kinase. (PubMed id 9660858)^{1, 3, 4} Taylor S.S.... McKeon F. (1998)
Identification of a novel gene -- SSK1 -- in human endothelial cells exposed to shear stress. (PubMed id 9618306)^{1, 3, 4} Donadelli R.... Noris M. (1998)
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. (PubMed id 15475955)^{1, 3, 4} Hanks S.... Rahman N. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 701	HGNC: 1149	AceView: BUB1B	Ensembl:ENSG00000156970	euGenes: HUgn701
ECgene: BUB1B	H-InvDB: BUB1B

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for BUB1B	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for BUB1B
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for BUB1B:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for BUB1B-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for BUB1B		Antibodies for BUB1B
	Explore super-pooled esiRNAs		Proteins for BUB1B
	Lentivirus-delivered shRNAs for BUB1B		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (BUB1B)
	Search for Antibodies
	Chimera RNAi (BUB1B)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for BUB1B

	Recombinant Proteins (BubR1)
	Antibodies (BubR1)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for BUB1B

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for BUB1B

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
BUB1B Gene at Home site.
Version 2.41.1
server4.xennexinc.com

BUB1B Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for BUB1B

Summaries
for BUB1B

Genomic Location
for BUB1B

Proteins
for BUB1B

Protein Domains/
Families
for BUB1B

Gene Function
for BUB1B

Pathways & Interactions
for BUB1B

Drugs & Compounds
for BUB1B

Transcripts
for BUB1B

Expression
for BUB1B

Orthologs
for BUB1B

Paralogs
for BUB1B

SNPs/Variants
for BUB1B

Disorders & Mutations
for BUB1B

Medical News
for BUB1B

Publications
for BUB1B

Search for BUB1B

Genome Databases showing BUB1B

Other Databases showing BUB1B

Specialized Databases showing BUB1B

Licensable Technologies
for BUB1B

Services
for BUB1B

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BUB1B Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor BUB1B

Summariesfor BUB1B

Genomic Locationfor BUB1B

Proteinsfor BUB1B

Protein Domains/Familiesfor BUB1B

Gene Functionfor BUB1B

Pathways & Interactionsfor BUB1B

Drugs & Compoundsfor BUB1B

Transcriptsfor BUB1B

Expression for BUB1B

Orthologsfor BUB1B

Paralogsfor BUB1B

SNPs/Variantsfor BUB1B

Disorders & Mutationsfor BUB1B

Medical Newsfor BUB1B

Publicationsfor BUB1B

Search for BUB1B

Genome Databases showing BUB1B

Other Databases showing BUB1B

Specialized Databases showing BUB1B

Licensable Technologiesfor BUB1B

Servicesfor BUB1B

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BUB1B

Summaries
for BUB1B

Genomic Location
for BUB1B

Proteins
for BUB1B

Protein Domains/
Families
for BUB1B

Gene Function
for BUB1B

Pathways & Interactions
for BUB1B

Drugs & Compounds
for BUB1B

Transcripts
for BUB1B

Expression
for BUB1B

Orthologs
for BUB1B

Paralogs
for BUB1B

SNPs/Variants
for BUB1B

Disorders & Mutations
for BUB1B

Medical News
for BUB1B

Publications
for BUB1B

Licensable Technologies
for BUB1B

Services
for BUB1B