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Aliases & Descriptions for MAD2L1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| HSMAD2 1, 2 | | HsMAD2 3 | | MAD2 1, 2, 3 |
| | | Descriptions |
|---|
| MAD2 (mitotic arrest deficient, yeast, homolog)-like 1 1, 2 | | MAD2 mitotic arrest deficient-like 1 (yeast) 2 | | MAD2-like 1 2, 3 | | MAD2-like protein 1 2 | | mitotic arrest deficient, yeast, homolog-like 1 2 |
|
| | Search outside databases for aliases for MAD2L1 genePrevious GC identifers: GC04M121738 GC04M121373 GC04M121439 GC04M121338 |
Summaries for MAD2L1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for MAD2L1: MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq] UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257Function: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plateGene Wiki entry for MAD2L1 |
Genomic Location for MAD2L1
(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 MAD2L1 gene 
Entrez Gene cytogenetic band: 4q27 Ensembl cytogenetic band: 4q27 HGNC cytogenetic band: 4q27MAD2L1 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 4 GeneLoc Exon Structure GeneLoc location for GC04M121260:
(about GC identifiers)
Start:
|
121,200,037 bp from pter |
End:
|
121,207,411 bp from pter |
Size:
|
7,375 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000004.10 NT_016354.18
| Proteins for MAD2L1
(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: MD2L1_HUMAN, Q13257 (See
protein sequence)Recommended Name: Mitotic spindle assembly checkpoint protein MAD2A Size: 205 amino acids; 23510 Da
Subunit: Monomer and homodimer. Heterotetramer with MAD1L1. Formation of a heterotetrameric core complex containing two molecules each of MAD1L1 and of MAD2L1 promotes binding of another molecule of MAD2L1 to each MAD2L1, resulting in a heterohexamer. Interacts with CDC20, MAD2L1BP and with ADAM17/TACE. Dimeric MAD2L1 in the closed conformation interacts with CDC20. Monomeric MAD2L1 in the open conformation does not interact with CDC20. CDC20 competes with MAD1L1 for MAD2L1 binding. Interacts with TPR
Subcellular location: Nucleus. Kinetochore. Cytoplasm. Note=Recruited by MAD1L1 to unattached kinetochores (Probable). Recruited to the nuclear pore complex by TPR during interphase
PDB structures from and Proteopedia :1DUJ (3D)
 1GO4 (3D)
 1KLQ (3D)
 1S2H (3D)
 2QYF (3D)
 2V64 (3D)
 2VFX (3D)
 
Secondary accessions: Q53F56 Q548X9 Q6IRW7Post-translational modifications:
Phosphorylated on multiple serine residues. The level of phosphorylation varies during the cell cycle and is highest during mitosis. Phosphorylation abolishes interaction with MAD1L1 and reduces interaction with CDC201
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_002349.1
ENSEMBL proteins: ENSP00000296509 ENSP00000332295
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: MAD2L1 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for MAD2L1: Assays for MAD2L1: | Protein
Domains/ Families for MAD2L1(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 Q13257
ProtoNet protein and cluster: Q13257 1 Blocks protein family: IPB003511 DNA-binding HORMA
UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257Domain: The protein has two highly different native conformations, an inactive open conformation that cannot bind CDC20 and that predominates in cytosolic monomers, and an active closed conformation. The protein in the closed conformation preferentially dimerizes with another molecule in the open conformation, but can also form a dimer with a molecule in the closed conformation. Formation of a heterotetrameric core complex containing two molecules of MAD1L1 and of MAD2L1 in the closed conformation promotes binding of another molecule of MAD2L1 in the open conformation and the conversion of the open to the closed form, and thereby promotes interaction with CDC20Similarity: Belongs to the MAD2 familySimilarity: Contains 1 HORMA domain | Gene Function for MAD2L1
(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002358
Applied Biosystems Silencer® siRNAs for MAD2L1
Sigma-Aldrich siRNA for MAD2L1  Sigma-Aldrich shRNA Panels and shRNA for MAD2L1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002358                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002358                                  untagged cDNA clone in CMV expression vector: NM_002358 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002358
UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257Function: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plateGenatlas biochemistry entry for MAD2L1:mitotic arrest deficient protein 2-like 1,yeast homolog in the 5q-syndrome region,involved in the cell cycle control at mitotic spindle assembly checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Mad2l1):
1 Gene Ontology (GO) molecular function term (links to tree view): About this table | Pathways & Interactions for MAD2L1
(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 CentralTM Interacting Genes and Proteins Network for MAD2L1 
5/150 Interacting proteins for MAD2L1 (Q132571, 2 ENSP000002965093) via UniProtKB, MINT, and/or STRING (see all 150
)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| MAD1L1 | Q9Y6D91, ENSP000002658543 | EBI-78203, EBI-742610 STRING (score=.998) | | MAD2L1BP | Q150131, ENSP000003612463 | EBI-78203, EBI-712181 STRING (score=.987) | | CDC20 | Q128341, 2, ENSP000003084503 | EBI-78203, EBI-367462 MINT-2211306 EBI-78203, EBI-367462 MINT-2211306 STRING (score=.999) | | ADAM17 | P785361, 2 | EBI-78203, EBI-78188 MINT-13999 MINT-13998 EBI-78203, EBI-78188 MINT-13999 MINT-13998 | | DSTYK | Q6XUX31 | EBI-78203, EBI-1049520 | About this table
5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
): About this table
|
Drugs & Compounds for MAD2L1(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 Tocris compounds for MAD2L1 1 Novoseek chemical compound relationship for MAD2L1 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| monastrol |
69.80 |
1 |
10973989 (1) |
About this table
|
Transcripts for MAD2L1(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002358
Sigma-Aldrich siRNA for MAD2L1  Sigma-Aldrich shRNA Panels and shRNA for MAD2L1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002358 REFSEQ mRNAs for MAD2L1 gene: NM_002358.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002358               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002358                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002358                                  untagged cDNA clone in CMV expression vector: NM_002358  Additional cDNA sequence: AF394735.1 AJ000186.1 AK223433.1 AK298228.1 AK313827.1 BC000356.2 BC005945.1 BC070283.1 CR605286.1 CR622828.1 CR623744.1 U31278.1 U65410.1 8 DOTS entries: DT.315367 DT.91760226 DT.100803604 DT.100803606 DT.95142518 DT.95272195 DT.95272196 DT.100761812 24/225 AceView cDNA sequences (see all 225
):AI686723 AI250233 BU509241 BQ959603 BQ440642 BF219704 BE270292 BQ428342 BG527529 AF394735 CA489522 CA429116 AJ000186 BM726304 AA749451 BF305710 CR605286 BP370349 CA337564 AI954357 BX092337 BM680911 BM472304 AA548637
highest scoring ESTs for MAD2L1:AJ000186 AA361458 AU099442 AW411207 AW674988 AW950858 BC000356 BC005945 BC070283 BE270292 Unigene Cluster for MAD2L1: MAD2 mitotic arrest deficient-like 1 (yeast) Hs.591697 [show with all ESTs]Unigene Representative Sequence: U65410
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000296509
ENST00000333047
|
Expression for MAD2L1
(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
| MAD2L1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for MAD2L1
1 / 2 / 3 6 probe-sets matching MAD2L1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTTTTATAA
SOURCE GeneReport for Unigene cluster: Hs.591697
Expression variation in blood from EXPOLDB for MAD2L1 |
Orthologs for MAD2L1
(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 MAD2L1 gene from 5/21 species (see all 21
)
About this table Species with no ortholog for MAD2L1
ENSEMBL Gene Tree for MAD2L1 | Paralogs for MAD2L1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Pseudogenes
- 2 related pseudogenes
|
SNPs/Variants for MAD2L1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for MAD2L1 (up to first 250kb)
|
Disorders & Mutations for MAD2L1
(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: 601467
10/13 Novoseek disease relationships for MAD2L1 gene (see all 13
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cancer |
34.33 |
20 |
12527913 (3), 18691855 (3), 16880791 (2), 17222786 (1) (see all 10) |
| nasopharyngeal carcinoma |
23.17 |
4 |
12527913 (1), 11133821 (1), 15735033 (1) |
| tumors |
15.85 |
23 |
15070740 (3), 18477210 (3), 17333263 (2), 15254432 (2) (see all 10) |
| gastric cancer |
15.85 |
20 |
15484292 (4), 16112690 (3), 16714000 (3), 16214181 (2) |
| retinoblastoma |
14.57 |
2 |
17456764 (1) |
| hepatocellular carcinoma |
8.94 |
13 |
18715617 (4), 15574775 (1) |
| colorectal cancer |
7.05 |
8 |
15457580 (3), 12970887 (3), 17297307 (1) |
| ovarian carcinoma |
3.40 |
1 |
17234259 (1) |
| cancer lung |
0.00 |
1 |
10439037 (1) |
| chromosomal aberrations |
0.00 |
1 |
17333263 (1) |
About this table
Human Genome Epidemiology Navigator: MAD2L1 (2 documents)
|
Medical News for MAD2L1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for MAD2L1 (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
| 10/189 PubMed articles for MAD2L1 gene (see all 189
):- Identification of a human mitotic checkpoint gene: hsMAD2. (PubMed id 8824189)1, 2, 3, 4 Li Y. and Benezra R. (1996)
- Insights into mad2 regulation in the spindle checkpoint revealed by the crystal structure of the symmetric mad2 dimer. (PubMed id 18318601)1, 3, 4 Yang M....Luo X. (2008)
- p31comet blocks Mad2 activation through structural mimicry. (PubMed id 18022368)1, 3, 4 Yang M....Luo X. (2007)
- Mad2 phosphorylation regulates its association with Mad1 and the APC/C. (PubMed id 12574116)1, 3, 4 Wassmann K....Benezra R. (2003)
- The Mad2 spindle checkpoint protein undergoes similar major conformational changes upon binding to either Mad1 or Cdc20. (PubMed id 11804586)1, 3, 4 Luo X....Yu H. (2002)
- The Mad2 spindle checkpoint protein has two distinct natively folded states. (PubMed id 15024386)1, 3, 4 Luo X....Yu H. (2004)
- The Mad2 conformational dimer: structure and implications for the spindle assembly checkpoint. (PubMed id 18022367)1, 3, 4 Mapelli M....Musacchio A. (2007)
- Crystal structure of the tetrameric Mad1-Mad2 core complex: implications of a 'safety belt' binding mechanism for the spindle checkpoint. (PubMed id 12006501)1, 3, 4 Sironi L....Musacchio A. (2002)
- Evidence for an interaction of the metalloprotease-disintegrin tumour necrosis factor alpha convertase (TACE) with mitotic arrest deficient 2 (MAD2), and of the metalloprotease-disintegrin MDC9 with a novel MAD2-related protein, MAD2-beta. (PubMed id 10527948)1, 3, 4 Nelson K.K.... Blobel C.P. (1999)
- Perturbation of the chromosomal binding of RCC1, Mad2 and survivin causes spindle assembly defects and mitotic catastrophe. (PubMed id 18712773)1, 3, 4 Ho C.Y....Li H.Y. (2008)
|
Search for MAD2L1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MAD2L1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing MAD2L1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MAD2L1(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
|
| About This Section
| --
| Services for MAD2L1(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 MAD2L1:

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Incremental update: 13 Oct 2009
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