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Aliases & Descriptions for MAD1L1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases HsMAD1 1 , 2 , 3 MAD1 1 , 2 , 3 PIG9 1 , 2 TP53I9 1 , 2 TXBP181 1 , 2 , 3 , 5 hMAD1 3
Descriptions MAD1 (mitotic arrest deficient, yeast, homolog)-like 1 1 MAD1 mitotic arrest deficient-like 1 (yeast) 2 MAD1-like 1 3 MAD1-like 1 protein 2 Mitotic arrest deficient-like protein 1 3 Mitotic checkpoint MAD1 protein homolog 3 Tax-binding protein 181 3 mitotic-arrest deficient 1, yeast, homolog-like 1 2 tumor protein p53 inducible protein 9 2
Search outside databases for aliases for MAD1L1 genePrevious GC identifers: GC07M001499 GC07M001599 GC07M001628
Summaries for MAD1L1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for MAD1L1 : MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset ofanaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as ahomodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumorsuppression. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq] UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9 Function : Component of the spindle-assembly checkpoint that prevents the onset of anaphase untilall chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattachedkinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1to the nuclear periphery
Gene Wiki entry for MAD1L1 (Mad1)
Genomic Location for MAD1L1
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the MAD1L1 gene Entrez Gene cytogenetic band: 7p22 Ensembl cytogenetic band: 7p22.2 HGNC cytogenetic band: 7p22 MAD1L1 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 7 GeneLoc Exon Structure
GeneLoc location for GC07M001821:
(about GC identifiers )
Start:
1,821,954 bp from pter
End:
2,239,404 bp from pter
Size:
417,451 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 1,908,333-2,321,257
RefSeq DNA sequence: NC_000007.12 NT_007819.16 NT_079592.2 Proteins for MAD1L1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: MD1L1_HUMAN, Q9Y6D9 (See
protein sequence )Recommended Name: Mitotic spindle assembly checkpoint protein MAD1 Size : 718 amino acids; 83067 Da
Subunit : Homodimer. Heterodimerizes with MAD2L1 in order to form a tetrameric MAD1L1-MAD2L1 corecomplex. Perturbation of the original MAD1L1-MAD2L1 structure by the spindle checkpoint maydecrease MAD2L1 affinity for MAD1L1. CDC20 can compete with MAD1L1 for MAD2L1 binding, until theattachment and/or tension dampen the checkpoint signal, preventing further release of MAD2L1 on toCDC20. Also able to interact with the BUB1/BUB3 complex and the viral Tax protein. Interacts withTPR
Subcellular location : Nucleus. Kinetochore. Note=From the beginning to the end of mitosis, it isseen to move from a diffusely nuclear distribution to the centrosome, to the spindle midzone andfinally to the midbody
Sequence caution : Sequence=AAC52059.1; Type=Frameshift; Positions=663;
PDB structures from and Proteopedia : 1GO4 (3D)
 
Secondary accessions : Q13312 Q75MI0 Q86UM4 Q9UNH0
Post-translational modifications:
Phosphorylated; by BUB1. Become hyperphosphorylated in late S through M phases or after mitoticspindle damage. Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001013858.1 NP_001013859.1 NP_003541.2 ENSEMBL proteins: ENSP00000384155 ENSP00000385334 ENSP00000382562 ENSP00000265854 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for MAD1L1: Assays for MAD1L1:
Protein
Domains/ Families for MAD1L1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9Y6D9 ProtoNet protein and cluster: Q9Y6D9
1 Blocks protein family : IPB008672 Mitotic checkpoint UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9 Similarity : Belongs to the MAD1 family
Gene Function for MAD1L1
(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
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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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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003550 Applied Biosystems Silencer ® siRNAs for MAD1L1 Sigma-Aldrich siRNA for MAD1L1 Sigma-Aldrich shRNA Panels and shRNA for MAD1L1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001013836                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001013836                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001013836  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001013836 UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9 Function : Component of the spindle-assembly checkpoint that prevents the onset of anaphase untilall chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattachedkinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1to the nuclear periphery Induction : Increased by TP53
Genatlas biochemistry entry for MAD1L1 :mitotic arrest deficient protein 1-like 1,yeast homolog induced by TP53,essential component of themitotic spindle assembly checkpoint,preventing the onset of anaphase until all chromosomes areproperly aligned at the metaphase plate,interacting as a homodimer with MAD2L1,involved in cellcycle control
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mad1l1) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for MAD1L1
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for MAD1L1 5/99 Interacting proteins for MAD1L1 (Q9Y6D9 1 , 2 ENSP00000265854 3 ) via UniProtKB, MINT, and/or STRING (see all 99
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
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Drugs & Compounds for MAD1L1 (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 )
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Browse Tocris compounds for MAD1L1
Transcripts for MAD1L1(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
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siRNAs from Applied Biosystems ,
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shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003550 Sigma-Aldrich siRNA for MAD1L1 Sigma-Aldrich shRNA Panels and shRNA for MAD1L1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001013836 NM_001013837 NM_003550
REFSEQ mRNAs for MAD1L1 gene (3 alternative transcripts): NM_001013836.1 NM_001013837.1 NM_003550.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001013836 NM_001013837 NM_003550
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001013836                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001013836                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001013836  
Additional cDNA sequence: AF083811.1 AF123318.1 AK090959.1 AK310481.1 AK310831.1 AK314227.1 BC009964.2 BC018870.2 CR600439.1 U33822.1
24 DOTS entries : DT.100820801 DT.100719823 DT.101980030 DT.100708775 DT.95178583 DT.95178581 DT.95178584 DT.95258931 DT.100724625 DT.97859201 DT.100685376 DT.100820802 DT.121112843 DT.95155934 DT.100699863 DT.91898481 DT.95202769 DT.100711653 DT.100820800 DT.121112836 DT.91771885 DT.97795020 DT.97821456 DT.97859202
7 AceView cDNA sequences :AI806304 AW183144 AW272458 AW628827 BQ429811 BQ429773 BG200630
highest scoring ESTs for MAD1L1 :U33822 AA077508 AA338765 AF083811 AF123318 AK090959 AL709177 AU100549 AU279508 BC009964
Unigene Cluster for MAD1L1: MAD1 mitotic arrest deficient-like 1 (yeast) Hs.654838 [show with all ESTs ] Unigene Representative Sequence: AK310831 GeneLoc Exon Structure 5/18 Alternative Splicing Database (ASD) splice patterns (SP) for MAD1L1 (see all 18
) ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20 ^ SP1 :   -   -             -               -   -   -   -     -   -   -   -   -     SP2 :                 -               -   -   -   -     -   -   -   -   -     SP3 :   -   -   -   -   -                     -   -   -   -     -   -   -   -   -     SP4 :                                                     SP5 :                                                    
ExUns: 21 ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c · 33d · 33e SP1 : -   -           -       -       -   -             SP2 : -   -           -       -       -   -             SP3 : -   -           -       -       -   -             SP4 : -   -           -                           SP5 :                                      
About this scheme ECgene alternative splicing isoforms for MAD1L1 4 Ensembl transcripts including schematic representations : ENST00000402746
ENST00000406869
ENST00000399654
ENST00000265854
Expression for MAD1L1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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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MAD1L1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for MAD1L1 1 / 2 / 3
3 probe-sets matching MAD1L1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CGTCCCGGAGSOURCE GeneReport for Unigene cluster: Hs.654838 Expression variation in blood from EXPOLDB for MAD1L1
UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9 Tissue specificity : Expressed weakly at G0/G1 and highly at late S and G2/M phase
Orthologs for MAD1L1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for MAD1L1 gene from 5/19 species (see all 19
)
About this table Species with no ortholog for MAD1L1 ENSEMBL Gene Tree for MAD1L1 Paralogs for MAD1L1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for MAD1L1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for MAD1L1 (up to first 250kb)
Disorders & Mutations for MAD1L1
(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 .)
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OMIM: 602686 UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9
Defects in MAD1L1 are involved in the development and/or progression of various types ofcancer
3 Novoseek disease relationships for MAD1L1 gene
About this table Human Genome Epidemiology Navigator: MAD1L1 (1 document)
Medical News for MAD1L1 (Possibly Related Articles in
Doctor's Guide )
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Publications for MAD1L1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/99 PubMed articles for MAD1L1 gene (see all 99
): Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1. (PubMed id 9546394) 1, 2, 3, 4 Jin D.Y....Jeang K.T. (1998) Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5. (PubMed id 10049595) 2, 3, 4 Jin D.-Y....Jeang K.-T. (1999) Phosphorylation of human MAD1 by the BUB1 kinase in vitro. (PubMed id 10198256) 1, 3, 4 Seeley T.W.... Zhen J.Y. (1999) 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) Tpr directly binds to Mad1 and Mad2 and is important for the Mad1-Mad2-mediated mitotic spindle checkpoint. (PubMed id 18981471) 3, 4 Lee S.H....McCormick F. (2008) A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243) 3, 4 Beausoleil S.A.... Gygi S.P. (2006) Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220) 3, 4 Nousiainen M.... Koerner R. (2006) Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935) 3, 4 Beausoleil S.A....Gygi S.P. (2004) 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 of human chromosome 7. (PubMed id 12853948) 3, 4 Hillier L.W.... Wilson R.K. (2003)
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Genome Databases showing MAD1L1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing MAD1L1
(According to HUGE )
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Specialized Databases showing MAD1L1 (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
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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
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Recombinant Proteins (MAD1 ) Antibodies (MAD1 )
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009