Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MAD2L1 Gene

protein-coding   GIFtS: 69
GCID: GC04M120980

MAD2 Mitotic Arrest Deficient-Like 1 (Yeast)

(Previous names: MAD2 (mitotic arrest deficient, yeast, homolog)-like 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
MAD2 Mitotic Arrest Deficient-Like 1 (Yeast)1 2     HSMAD22
MAD2 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 11 2     Mitotic Arrest Deficient, Yeast, Homolog-Like 12
Mitotic Arrest Deficient 2-Like Protein 12 3     Mitotic Spindle Assembly Checkpoint Protein MAD2A2
MAD22 3     HsMAD23
MAD2-Like Protein 12 3     

External Ids:    HGNC: 67631   Entrez Gene: 40852   Ensembl: ENSG000001641097   OMIM: 6014675   UniProtKB: Q132573   

Export aliases for MAD2L1 gene to outside databases

Previous GC identifers: GC04M121738 GC04M121260 GC04M121373 GC04M121439 GC04M121338 GC04M116701


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

TryGeneCards Plus

Entrez Gene summary for MAD2L1 Gene:
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, Jul 2008)

GeneCards Summary for MAD2L1 Gene:
MAD2L1 (MAD2 mitotic arrest deficient-like 1 (yeast)) is a protein-coding gene. Diseases associated with MAD2L1 include marginal zone b-cell lymphoma, and familial renal cell carcinoma. GO annotations related to this gene include protein homodimerization activity and identical protein binding.

UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257
Function: 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 plate

Gene Wiki entry for MAD2L1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAD2L1 gene promoter:
         TBP   AML1a   Egr-1   Olf-1   LUN-1   POU3F2   Evi-1   Egr-2   AREB6   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAD2L1 promoter sequence
   Search Chromatin IP Primers for MAD2L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAD2L1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q27   Ensembl cytogenetic band:  4q27   HGNC cytogenetic band: 4q27

MAD2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAD2L1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M120980:  view genomic region     (about GC identifiers)

Start:
120,976,763 bp from pter      End:
120,988,229 bp from pter
Size:
11,467 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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. Binds to UBD during mitosis. Interacts with
isoform 1 and isoform 2 of NEK2
Selected PDB 3D structures from and Proteopedia for MAD2L1 (see all 8):
1DUJ (3D)        1GO4 (3D)        1KLQ (3D)        1S2H (3D)        2QYF (3D)        2V64 (3D)    
Secondary accessions: Q53F56 Q548X9 Q6IRW7 Q8IZX3
Alternative splicing: 2 isoforms:  Q13257-1   Q13257-2   

Explore the universe of human proteins at neXtProt for MAD2L1: NX_Q13257

Explore proteomics data for MAD2L1 at MOPED

Post-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 CDC20.
    Phosphorylated by NEK21
  • Ubiquitination2 at Lys122, Lys166, Lys192, Lys200
  • Modification sites at PhosphoSitePlus

  • See MAD2L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002349.1  
    ENSEMBL proteins: 
     ENSP00000296509   ENSP00000332295   ENSP00000425702  
    Reactome Protein details: Q13257

    MAD2L1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MAD2L1
    OriGene Protein Over-expression Lysate for MAD2L1
    OriGene MassSpec for MAD2L1
    OriGene Custom Protein Services for MAD2L1
    GenScript Custom Purified and Recombinant Proteins Services for MAD2L1
    Novus Biologicals MAD2L1 Proteins
    Novus Biologicals MAD2L1 Lysate
    Sino Biological Recombinant Protein for MAD2L1
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for MAD2L1
    Cloud-Clone Corp. Proteins for MAD2L1

    MAD2L1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MAD2L1
    R&D Systems Antibodies for MAD2L1
    Cell Signaling Technology (CST) Antibodies for MAD2L1 
    OriGene Antibodies for MAD2L1
    OriGene Custom Antibody Services for MAD2L1
    Novus Biologicals MAD2L1 Antibodies
    Abcam antibodies for MAD2L1
    Cloud-Clone Corp. Antibodies for MAD2L1
    ThermoFisher Antibody for MAD2L1
    LSBio Antibodies in human, mouse, rat for MAD2L1

    MAD2L1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MAD2L1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAD2L1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAD2L1
    Cloud-Clone Corp. CLIAs for MAD2L1


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR003511 HORMA_DNA-bd
     IPR027097 Mad2

    Graphical View of Domain Structure for InterPro Entry Q13257

    ProtoNet protein and cluster: Q13257

    1 Blocks protein domain: IPB003511 DNA-binding HORMA

    UniProtKB/Swiss-Prot: MD2L1_HUMAN, Q13257
    Domain: 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 CDC20
    Similarity: Belongs to the MAD2 family
    Similarity: Contains 1 HORMA domain


    MAD2L1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MD2L1_HUMAN, Q13257
    Function: 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 plate

         Genatlas 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 plate

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10200259
    GO:0042802identical protein binding IPI16525508
    GO:0042803protein homodimerization activity IPI18022367
         
    MAD2L1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for MAD2L1:
     Decreased number of cells in m  Increased cell death in breast  Increased circadian period len  Increased gamma-H2AX phosphory 
     Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mad2l1):
     cellular  embryogenesis  growth/size/body  hematopoietic system  immune system 
     integument  mortality/aging  tumorigenesis 

    MAD2L1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mad2l1tm1Sorg for MAD2L1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAD2L1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAD2L1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAD2L1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAD2L1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MAD2L1:
    hsa-mir-1 (MIRT023679), hsa-mir-192-5p (MIRT004853), hsa-mir-93-5p (MIRT048838), hsa-mir-215-5p (MIRT024623)

    Block miRNA regulation of human, mouse, rat MAD2L1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MAD2L1:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidMAD2L1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAD2L1
    Predesigned siRNA for gene silencing in human, mouse, rat MAD2L1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MAD2L1

    Clone
    Products:
         
    OriGene clones in human, mouse for MAD2L1 (see all 7)
    OriGene ORF clones in mouse, rat for MAD2L1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAD2L1 (NM_002358)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAD2L1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAD2L1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MAD2L1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MAD2L1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAD2L1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MD2L1_HUMAN, Q13257: Nucleus. Chromosome, centromere, kinetochore. Cytoplasm. Cytoplasm, cytoskeleton, spindle
    pole. Note=Recruited by MAD1L1 to unattached kinetochores (Probable). Recruited to the nuclear pore complex by
    TPR during interphase. Recruited to kinetochores in late prometaphase after BUB1, CENPF, BUB1B and CENPE.
    Kinetochore association requires the presence of NEK2. Kinetochore association is repressed by UBD
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    nucleus5
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region ----
    GO:0000776colocalizes with kinetochore IDA17363900
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0000922spindle pole IEA--
    GO:0005634nucleus IDA18981471

    MAD2L1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for MAD2L1 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2CDK-mediated phosphorylation and removal of Cdc6
    APC/C-mediated degradation of cell cycle proteins0.94
    APC/C-Cdc20 mediated degradation of mitotic proteins0.93
    Regulation of APC/C activators between G1/S and early anaphase0.94
    Activation of APC/C and APC/C-Cdc20 mediated degradation of mitotic proteins0.92
    Regulation of mitotic cell cycle0.94
    Cell Cycle Checkpoints0.58
    3Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Inactivation of APC/C via direct inhibition of the APC/C complex
    Inactivation of APC/C via direct inhibition of the APC/C complex0.64
    Mitotic Spindle Checkpoint0.62
    Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MAD2L1
        Cell Cycle / Checkpoint Control

    2 GeneGo (Thomson Reuters) Pathways for MAD2L1
        Cell cycle Role of APC in cell cycle regulation
    Cell cycle Spindle assembly and chromosome separation

    1 BioSystems Pathway for MAD2L1
        Cell cycle


    Selected Reactome Pathways for MAD2L1 (see all 7)
        Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
    Resolution of Sister Chromatid Cohesion
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
    Mitotic Prometaphase
    Separation of Sister Chromatids


    4 Kegg Pathways  (Kegg details for MAD2L1):
        Cell cycle
    Oocyte meiosis
    Progesterone-mediated oocyte maturation
    HTLV-I infection


    MAD2L1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MAD2L1: 
              Cell Cycle in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MAD2L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MAD2L1 (Q132571, 2, 3 ENSP000002965094) via UniProtKB, MINT, STRING, and/or I2D (see all 576)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGOL2Q562F61, 2, 3EBI-78203,EBI-989213 MINT-8212643 MINT-8295741 MINT-8210333 MINT-8211871 MINT-8210370 MINT-8210344 MINT-8210355 MINT-8211862 MINT-8210383 MINT-8212589 MINT-8211761 I2D: score=2 
    HIST1H4CP628053, ENSP000003670344I2D: score=2 STRING: ENSP00000367034
    HIST1H4HP628053, ENSP000002893524I2D: score=2 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=2 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation IEA--
    GO:0000278mitotic cell cycle TAS--
    GO:0007093mitotic cell cycle checkpoint IDA8824189
    GO:0007094mitotic spindle assembly checkpoint TAS--
    GO:0031145anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process TAS--

    MAD2L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MAD2L1 (MD2L1)

    6 Novoseek inferred chemical compound relationships for MAD2L1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 71.2 12 14583462 (3), 16112690 (1), 8824189 (1), 12235289 (1) (see all 5)
    monastrol 67.3 1 10973989 (1)
    paclitaxel 48.3 17 15059905 (4), 18691855 (2), 16075279 (1), 11451998 (1) (see all 6)
    cisplatin 24.2 15 16880791 (6), 15735033 (5), 18691855 (1)
    vincristine 0.0741 1 12527913 (1)
    serine 0 5 12574116 (2), 20034488 (1)



    MAD2L1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MAD2L1 gene: 
    NM_002358.3  

    Unigene Cluster for MAD2L1:

    MAD2 mitotic arrest deficient-like 1 (yeast)
    Hs.591697  [show with all ESTs]
    Unigene Representative Sequence: NM_002358
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296509(uc003idl.2 uc003idm.2) ENST00000333047 ENST00000512484
    ENST00000504707 ENST00000511295
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAD2L1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MAD2L1:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidMAD2L1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAD2L1
    Predesigned siRNA for gene silencing in human, mouse, rat MAD2L1
    Clone
    Products:
         
    OriGene clones in human, mouse for MAD2L1 (see all 7)
    OriGene ORF clones in mouse, rat for MAD2L1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAD2L1 (NM_002358)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAD2L1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAD2L1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MAD2L1
    OriGene qSTAR qPCR primer pairs in human, mouse for MAD2L1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAD2L1
      QuantiTect SYBR Green Assays in human, mouse, rat MAD2L1
      QuantiFast Probe-based Assays in human, mouse, rat MAD2L1

    Additional mRNA sequence: 

    AF394735.1 AJ000186.1 AK223433.1 AK298228.1 AK313827.1 BC000356.2 BC005945.1 BC070283.1 

    8 DOTS entries:

    DT.315367  DT.91760226  DT.100803604  DT.100803606  DT.95272195  DT.95142518  DT.95272196  DT.100761812 

    Selected AceView cDNA sequences (see all 225):

    BU509710 CA337564 BQ223232 BG527529 AA749451 AA565833 BU620900 BU632901 
    BC000356 BQ959603 AI918545 CA430932 CR623744 BE886793 AJ000186 AI250233 
    BQ425846 CA429116 BM680911 BQ428342 CA489378 BE270292 BX092337 AI686723 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MAD2L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTTATAA
    MAD2L1 Expression
    About this image


    MAD2L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Gonad
             Primary Oocyte Primary Follicle
    MAD2L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAD2L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591697
        Pathway & Disease-focused RT2 Profiler PCR Array including MAD2L1: 
              Cell Cycle in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MAD2L1
    OriGene qSTAR qPCR primer pairs in human, mouse for MAD2L1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAD2L1
    QuantiTect SYBR Green Assays in human, mouse, rat MAD2L1
    QuantiFast Probe-based Assays in human, mouse, rat MAD2L1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAD2L1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAD2L1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mad2l11 , 5 MAD2 mitotic arrest deficient-like 1 (yeast)5
    MAD2 mitotic arrest deficient-like 11
    88.29(n)1
    94.15(a)1
      6 (30.56 cM)5
    561501  NM_019499.41  NP_062372.21 
     665353905 
    chicken
    (Gallus gallus)
    Aves MAD2L11 MAD2 mitotic arrest deficient-like 1 (yeast) 77.67(n)
    89.5(a)
      422675  NM_001277749.1  NP_001264678.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAD2L16
    MAD2 mitotic arrest deficient-like 1 (yeast)
    83(a)
    1 ↔ 1
    5(139791554-139797320)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.290232 Xenopus laevis transcribed sequence with moderate similarity more 77.92(n)    BU915284.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mad2l11 MAD2 mitotic arrest deficient-like 1 (yeast) 71.53(n)
    78.12(a)
      550434  NM_001017739.1  NP_001017739.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG174983
    mad21
    mitotic spindle checkpoint3
    mad21
    46(a)3
    52.74(n)1
    45.27(a)1
      386561  NM_139734.31  NP_647991.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mdf-21 , 3 Expression: germ cells, embryo, L1
    larva, L2 larva, more3
    mdf-21
    52(a)3
    57.34(n)1
    52.85(a)1
      1770461  NM_001028392.51  NP_001023563.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAD2(YJL030W)4
    MAD21
    Component of the spindle-assembly checkpoint complex; more4
    MAD21
    50.71(n)1
    45.21(a)1
      10(387657-388247)4
    8534221, 4  NP_012504.31  NP_012504.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MAD21 MAD2 54.21(n)
    47.37(a)
      822195  NM_113502.3  NP_189227.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04865001 Os04g0486500 50.91(n)
    46.77(a)
      4336215  NM_001059673.1  NP_001053138.1 


    ENSEMBL Gene Tree for MAD2L1 (if available)
    TreeFam Gene Tree for MAD2L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for MAD2L1 gene

    MAD2L1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for MAD2L1
    PGOHUM00000258795 PGOHUM00000248940 PGOHUM00000234658 PGOHUM00000243850


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MAD2L1 (see all 200)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs285388381,2
    C,F--120980087(+) AATAAG/ACATTA 1 -- ds500111Minor allele frequency- A:0.19NA WA CSA EA 373
    rs286167851,2
    C,F,H--120980212(+) GTACCA/GGATGA 1 -- ds500119Minor allele frequency- G:0.09NS EA NA WA CSA 1994
    rs1475402771,2
    --120980240(+) CAGGAA/GTAAGC 1 -- ds50010--------
    rs1393949271,2
    --120980247(+) AAGCAC/TAGTAT 1 -- ds50010--------
    rs1836801221,2
    --120980279(+) GGCTGA/GCAATA 1 -- ds50010--------
    rs1500557591,2
    --120980446(+) ATTGAA/GGACAC 1 -- ds50010--------
    rs1879409711,2
    --120980631(+) TAAAAC/GTTGAT 1 -- ut310--------
    rs1998897731,2
    --120980650(+) ACACA-/TGAAAAA 1 -- ut310--------
    rs1906799891,2
    --120981034(+) TGACAA/GAAAAA 1 -- ut310--------
    rs1827611771,2
    --120981127(+) AGGAAA/CAATTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MAD2L1 (120976763 - 120988229 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MAD2L1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv879851CNV Loss21882294

    Human Gene Mutation Database (HGMD): MAD2L1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAD2L1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAD2L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 601467    OMIM disorders: --

    Selected diseases for MAD2L1 (see all 34):    
    About MalaCards
    marginal zone b-cell lymphoma    familial renal cell carcinoma    5q- syndrome    anoxia
    soft tissue sarcoma    nasopharyngitis    familial breast cancer    human t-cell leukemia virus type 1
    testicular germ cell tumor    alcohol dependence    germ cell tumors    retinoblastoma
    b-cell lymphomas    renal cell carcinoma    ulcerative colitis    t-cell leukemia
    hepatocellular carcinoma    colorectal cancer    breast cancer    osteosarcoma


    MAD2L1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MAD2L1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 38.2 28 12527913 (3), 18691855 (3), 19461085 (2), 16880791 (2) (see all 12)
    gastric cancer 23.8 33 19461085 (5), 15484292 (4), 20440596 (4), 16112690 (3) (see all 6)
    nasopharyngeal carcinoma 20.5 4 12527913 (1), 11133821 (1), 15735033 (1)
    hepatocellular carcinoma 17.3 13 18715617 (4), 15574775 (1)
    tumors 16.5 23 15070740 (3), 18477210 (3), 17333263 (2), 15254432 (2) (see all 10)
    retinoblastoma 12.4 2 17456764 (1)
    colorectal cancer 3.66 8 15457580 (3), 12970887 (3), 17297307 (1)
    ovarian carcinoma 1.01 1 17234259 (1)
    cancer lung 0 1 10439037 (1)
    chromosomal aberrations 0 1 17333263 (1)

    Genetic Association Database (GAD): MAD2L1
    Human Genome Epidemiology (HuGE) Navigator: MAD2L1 (5 documents)

    Export disorders for MAD2L1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for MAD2L1 gene, integrated from 10 sources (see all 279):
    (articles sorted by number of sources associating them with MAD2L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human mitotic checkpoint gene: hsMAD2. (PubMed id 8824189)1, 2, 3, 9 Li Y. and Benezra R. (Science 1996)
    2. Insights into Mad2 regulation in the spindle checkpoint revealed by the crystal structure of the symmetric Mad2 dimer. (PubMed id 18318601)1, 2, 9 Yang M....Luo X. (PLoS Biol. 2008)
    3. p31comet blocks Mad2 activation through structural mimicry. (PubMed id 18022368)1, 2, 9 Yang M.... Luo X. (Cell 2007)
    4. Mad2 phosphorylation regulates its association with Mad1 and the APC/C. (PubMed id 12574116)1, 2, 9 Wassmann K.... Benezra R. (EMBO J. 2003)
    5. The Mad2 spindle checkpoint protein undergoes similar major conformational changes upon binding to either Mad1 or Cdc20. (PubMed id 11804586)1, 2, 9 Luo X.... Yu H. (Mol. Cell 2002)
    6. The Mad2 spindle checkpoint protein has two distinct natively folded states. (PubMed id 15024386)1, 2, 9 Luo X.... Yu H. (Nat. Struct. Mol. Biol. 2004)
    7. The Mad2 conformational dimer: structure and implications for the spindle assembly checkpoint. (PubMed id 18022367)1, 2, 9 Mapelli M.... Musacchio A. (Cell 2007)
    8. Crystal structure of the tetrameric Mad1-Mad2 core complex: implications of a 'safety belt' binding mechanism for the spindle checkpoint. (PubMed id 12006501)1, 2, 9 Sironi L....Musacchio A. (EMBO J. 2002)
    9. 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, 2, 9 Nelson K.K.... Blobel C.P. (Biochem. J. 1999)
    10. Perturbation of the chromosomal binding of RCC1, Mad2 and survivin causes spindle assembly defects and mitotic catastrophe. (PubMed id 18712773)1, 2, 9 Ho C.-Y.... Li H.-Y. (J. Cell. Biochem. 2008)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 4085 HGNC: 6763 AceView: MAD2L1 Ensembl:ENSG00000164109 euGenes: HUgn4085
    ECgene: MAD2L1 Kegg: 4085 H-InvDB: MAD2L1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MAD2L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAD2L1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MAD2L1 gene:
    Search GeneIP for patents involving MAD2L1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of MAD2L1
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for MAD2L1 (MAD2L1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MAD2L1   OriGene RNAi products in human, mouse, rat for MAD2L1  
     OriGene qPCR primer pairs and template standards for MAD2L1   OriGene Protein Over-expression Lysate for MAD2L1  
     OriGene MassSpec something-or-other for MAD2L1   OriGene clones in human, mouse for MAD2L1  
     OriGene qSTAR qPCR primer pairs in human, mouse for MAD2L1   OriGene Purified Protein for MAD2L1  
     OriGene ORF clones in mouse, rat for MAD2L1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MAD2L1   OriGene Custom Protein Services for MAD2L1  

     
     
     Block miRNA regulation of human, mouse, rat MAD2L1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MAD2L1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAD2L1 Predesigned siRNA for gene silencing in human, mouse, rat MAD2L1
     QuantiFast Probe-based Assays in human, mouse, rat MAD2L1 QuantiTect SYBR Green Assays in human, mouse, rat MAD2L1
     PCR Arrays including human, mouse, rat MAD2L1 Search Chromatin IP Primers for MAD2L1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAD2L1  GeneGlobe Interaction Network for MAD2L1
     Regulatory tfbs in MAD2L1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MAD2L1 GenScript cDNA clones with any tag delivered in your preferred vector for MAD2L1
     GenScript Custom Assay Services for MAD2L1 GenScript Custom overexpressing Cell Line Services for MAD2L1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for MAD2L1 

     Search Tocris compounds for MAD2L1 (MD2L1)
     Proteins for MAD2L1
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MAD2L1 antibodies
     MAD2L1 proteins
     MAD2L1 lysates
     Antibodies for MAD2L1
     See all of Abcam's Antibodies, Kits and Proteins for MAD2L1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for MAD2L1
     Proteins for MAD2L1
     Antibodies for MAD2L1
     ELISAs for MAD2L1
     CLIAs for MAD2L1



     Browse ESI BIO Cell Lines and PureStem Progenitors for MAD2L1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAD2L1
     SwitchGear 3'UTR luciferase reporter plasmids for MAD2L1
     SwitchGear Promoter luciferase reporter plasmids for MAD2L1
     ThermoFisher Antibody for MAD2L1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAD2L1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAD2L1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAD2L1
     LSBio Antibodies in human, mouse, rat for MAD2L1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 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, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MAD2L1 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4