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MAD2L1BP Gene

protein-coding GIFtS: 53

GC06P043711

MAD2L1 binding protein
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
CMT2 ^¹, ², ³
KIAA0110 ^¹, ², ³
MGC11282 ^²
OTTHUMP00000016496 ^²
RP1-261G23.6 ^²
dJ261G23.1 ^¹

Descriptions
Caught by MAD2 protein ^², ³
MAD2L1 binding protein ^²

External Ids
HGNC: 21059¹
Entrez Gene: 9587²
UniProtKB: Q15013³
Ensembl: ENSG00000124688⁷

Search outside databases for aliases for MAD2L1BP gene

Previous GC identifers: GC06P043598 GC06P043650

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for MAD2L1BP:

The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest

deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the

onset of anaphase until all the kinetochores are attached to the spindle. This protein may

interact with the spindle checkpoint and coordinate cell cycle events in late mitosis.

Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided

by RefSeq]

UniProtKB/Swiss-Prot: MD2BP_HUMAN, Q15013

Function: May function to silence the spindle checkpoint and allow mitosis to proceed through

anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex

Gene Wiki entry for MAD2L1BP

(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)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the MAD2L1BP gene

Entrez Gene cytogenetic band: 6p21.1 Ensembl cytogenetic band: 6p21.1 HGNC cytogenetic band: 6p21.1

MAD2L1BP 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 6 GeneLoc Exon Structure

GeneLoc location for GC06P043711: (about GC identifiers)

Start:	43,705,257 bp from pter
End:	43,716,667 bp from pter
Size:	11,411 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000006.10 NT_007592.14

(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)
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UniProtKB/Swiss-Prot: MD2BP_HUMAN, Q15013 (See protein sequence)

Recommended Name: MAD2L1-binding protein

Size: 274 amino acids; 31052 Da

Subunit: Interacts with MAD2L1

Subcellular location: Nucleus. Note=During early mitosis, unevenly distributed throughout the

nucleoplasm. From metaphase to anaphase, concentrated on the spindle

Developmental stage: During the cell cycle, levels increase and then remain constant until late

mitosis after which they drop

PDB structures from and Proteopedia :

2QYF (3D)

Secondary accessions: B4DLV3 Q6IBB1

Alternative splicing: 2 isoforms: Q15013-1 Q15013-2

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001003690.1 NP_055443.1

ENSEMBL proteins:

ENSP00000361246 ENSP00000361244

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (MAD2L1 binding protein)
	Human Recombinant Proteins from Abnova (MAD2L1BP)

OriGene Purified Recombinant Human Proteins (see all 2): MAD2L1BP

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10942595
GO:0005737	cytoplasm	IDA	10942595

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Antibodies for MAD2L1BP:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for MAD2L1BP
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (MAD2L1 binding protein), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (MAD2L1BP)
	Novus Biologicals Antibodies for MAD2L1BP

Assays for MAD2L1BP:

	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 Q15013

ProtoNet protein and cluster: Q15013

UniProtKB/Swiss-Prot: MD2BP_HUMAN, Q15013

Similarity: Belongs to the MAD2L1BP family

(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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MAD2L1BP)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_014628

Applied Biosystems Silencer® siRNAs for MAD2L1BP

Sigma-Aldrich siRNA for MAD2L1BP

Sigma-Aldrich shRNA for MAD2L1BP

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for MAD2L1BP
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001003690
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001003690
untagged cDNA clones in CMV expression vector (see all 2): NM_001003690

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_001003690

UniProtKB/Swiss-Prot: MD2BP_HUMAN, Q15013

Function: May function to silence the spindle checkpoint and allow mitosis to proceed through

anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16169070 18022368

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

5/14 Interacting proteins for MAD2L1BP (Q15013^{1, 2} ENSP00000361246³) via UniProtKB, MINT, and/or STRING (see all 14 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAD2L1	Q13257¹, ENSP00000296509³	EBI-712181, EBI-78203 STRING (score=.987)
TRIP13	Q15645¹^,²	EBI-712181, EBI-358993 MINT-64187 MINT-66476 EBI-712181, EBI-358993 MINT-64187 MINT-66476
TRIP13	Q15645¹^,²	EBI-712181, EBI-358993 MINT-64187 MINT-66476 EBI-712181, EBI-358993 MINT-64187 MINT-66476
IGSF21	Q96ID5²	MINT-64192
KAT5	Q92993²	MINT-64193

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1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007096	regulation of exit from mitosis	IEA	--

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(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 MAD2L1BP

(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 (MAD2L1BP)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_014628

Sigma-Aldrich siRNA for MAD2L1BP

Sigma-Aldrich shRNA for MAD2L1BP

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001003690 NM_014628

REFSEQ mRNAs for MAD2L1BP gene (2 alternative transcripts):

NM_001003690.1 NM_014628.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001003690 NM_014628

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001003690
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001003690
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001003690

Additional cDNA sequence: AK297172.1

9 DOTS entries:

DT.101957052 DT.100787342 DT.100787337 DT.317149 DT.100787338 DT.100787341 DT.121405644 DT.121405365

DT.95373520

24/229 AceView cDNA sequences (see all 229 ):

BF941669 BE264993 BC002904 BQ688762 BQ945849 AI311810 NM_014628 BM717160

BU173954 AA828361 BQ183719 CA397952 BE254750 W42666 BG393122 BF314371

BM915708 CR598493 BQ012746 AW292376 BE732337 BX282156 AA503234 BQ432145

highest scoring ESTs for MAD2L1BP:

D14811 AA057491 AA305572 AA307609 AA359658 AA482619 AA503234 AA633347 AA669491 AA700635

Unigene Clusters for MAD2L1BP:

MAD2L1 binding protein

Hs.122346 [show with all ESTs], Hs.715485

Unigene Representative Sequences: NM_001003690, AK297172

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000372173 ENST00000372171

(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 )
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MAD2L1BP expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MAD2L1BP

¹ / ² / ³

3 probe-sets matching MAD2L1BP 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
39386_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	D14811	1.00	1.00	1.00	1
203094_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_014628	0.60	1.00	0.82	1
203094_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

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Data from

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

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene clusters: Hs.122346 Hs.715485
Expression variation in blood from EXPOLDB for MAD2L1BP

(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 MAD2L1BP gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	MAD2L1BP¹	--	MAD2L1 binding protein	87.45(n) 87.83(a)	474916 XM_532151.2 XP_532151.2
chimpanzee (Pan troglodytes)	MAD2L1BP¹	--	MAD2L1 binding protein	99.24(n) 99.02(a)	462721 XM_001139524.1 XP_001139524.1
cow (Bos taurus)	MAD2L1BP¹	--	MAD2L1 binding protein	87.96(n) 85.93(a)	615542 NM_001076381.1 NP_001069849.1
rat (Rattus norvegicus)	Mad2l1bp¹	--	MAD2L1 binding protein	82.38(n) 82.51(a)	316237 NM_001009699.1 NP_001009699.1
mouse (Mus musculus)	Mad2l1bp^{1, 5}	17⁵	MAD2L1 binding protein^{1, 5}	81.42(n)¹ 79.77(a)¹	66591¹ NM_025649.2¹ NP_079925.1¹ AK002377⁵ AK004224⁵ (see all 15)

About this table Species with no ortholog for MAD2L1BP

ENSEMBL Gene Tree for MAD2L1BP

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

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

10/49 NCBI SNPs in MAD2L1BP are shown (see all 49 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 40)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs7106^1,2	A,C,F,H	43716364(+)	`CAACTC/TTCCTT`	2	--	ut3¹ ese³ trp³		14		MN EU EA WA NA	1526
	rs3757270^1,2	C,F,H	43711210(+)	`GTGAAC/TCCCTT`	2	--	int¹ ng5¹		4		EU EA WA	418
	rs3757271^1,2	F,H	43711446(+)	`AAATCC/TCAGCT`	2	--	ng5¹ int¹		4		EU EA WA	418
--	rs7750364^1,2	A,C	43709986(+)	`ctgaaG/Ttgcag`	2	--	ng5¹ int¹		0	--	--	--	--
	rs1799726^1,2	A	43716543(+)	`GACACA/TCTATG`	2	--	ut3¹		0	--	--	--	--
	rs3757269^1,2	H	43711149(+)	`CTTCCA/TCACCC`	2	--	ng5¹ int¹		4		EU EA WA	418
	rs35249206^1,2	C,F	43716026(+)	`TTTAGC/TGAGCT`	2	S/S	syn¹		1		NA	72
	rs35679149^1,2	F	43712145(+)	`ATAGAA/GCTACT`	2	E/E	syn¹		1		NA	76
	rs35316205^1,2	F	43716144(+)	`ATAAAC/TTGACT`	2	L/L	syn¹		1		NA	78
--	rs7749866^1,2	A,C,H	43713197(+)	`ggacaG/Atggca`	2	--	int¹		1		EU	120

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HapMap Linkage Disequilibrium images for MAD2L1BP (up to first 250kb)

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

(Possibly Related Articles in Doctor's Guide)
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(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

10/15 PubMed articles for MAD2L1BP gene (see all 15 ):

Identification of a MAD2-binding protein, CMT2, and its role in mitosis. (PubMed id 12456649)^{1, 2, 3, 4} Habu T....Matsumoto T. (2002)
Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7788527)^{2, 3, 4} Nagase T....Kotani H. (1995)
p31comet blocks Mad2 activation through structural mimicry. (PubMed id 18022368)^{3, 4} Yang M....Luo X. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{3, 4} Mungall A.J.... Beck S. (2003)
p31comet Induces cellular senescence through p21 accumulation and Mad2 disruption. (PubMed id 19276188)³ Yun M....Lee K.H. (2009)
Mutation analysis of p31comet gene, a negative regulator of Mad2, in human hepatocellular carcinoma. (PubMed id 17934339)³ Yun M.Y....Lee K.H. (2007)
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)⁴ Matsuoka S.... Elledge S.J. (2007)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)³ Stelzl U....Wanker E.E. (2005)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)³ Rual J.F....Vidal M. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 9587	HGNC: 21059	AceView: MAD2L1BP	Ensembl:ENSG00000124688	euGenes: HUgn9587
ECgene: MAD2L1BP	H-InvDB: MAD2L1BP

(According to HUGE)
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HUGE: KIAA0110

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Licensable Technologies for MAD2L1BP
(Available from WIS Yeda, Salk, Tufts)

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(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)
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Products for MAD2L1BP:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
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Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
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	Lentivirus-delivered shRNAs for MAD2L1BP		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
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	Recombinant & Natural Proteins

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	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for MAD2L1BP

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MAD2L1BP Gene

protein-coding GIFtS: 53

Aliases &
Descriptions
for MAD2L1BP

Summaries
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Genomic Location
for MAD2L1BP

Proteins
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Protein Domains/
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Drugs & Compounds
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Medical News
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Genome Databases showing MAD2L1BP

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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

MAD2L1BP Gene

protein-coding GIFtS: 53

Aliases & Descriptionsfor MAD2L1BP

Summariesfor MAD2L1BP

Genomic Locationfor MAD2L1BP

Proteinsfor MAD2L1BP

Protein Domains/Familiesfor MAD2L1BP

Gene Functionfor MAD2L1BP

Pathways & Interactionsfor MAD2L1BP

Drugs & Compoundsfor MAD2L1BP

Transcriptsfor MAD2L1BP

Expression for MAD2L1BP

Orthologsfor MAD2L1BP

Paralogsfor MAD2L1BP

SNPs/Variantsfor MAD2L1BP

Disorders & Mutationsfor MAD2L1BP

Medical Newsfor MAD2L1BP

Publicationsfor MAD2L1BP

Search for MAD2L1BP

Genome Databases showing MAD2L1BP

Other Databases showing MAD2L1BP

Specialized Databases showing MAD2L1BP

Licensable Technologiesfor MAD2L1BP

Servicesfor MAD2L1BP

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 MAD2L1BP

Summaries
for MAD2L1BP

Genomic Location
for MAD2L1BP

Proteins
for MAD2L1BP

Protein Domains/
Families
for MAD2L1BP

Gene Function
for MAD2L1BP

Pathways & Interactions
for MAD2L1BP

Drugs & Compounds
for MAD2L1BP

Transcripts
for MAD2L1BP

Expression
for MAD2L1BP

Orthologs
for MAD2L1BP

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for MAD2L1BP

Disorders & Mutations
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