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MAD1L1 Gene

protein-coding   GIFtS: 68
GCID: GC07M001855

MAD1 Mitotic Arrest Deficient-Like 1 (Yeast)

(Previous names: MAD1 (mitotic arrest deficient, yeast, homolog)-like 1)
  See MAD1L1-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)
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Aliases
MAD1 Mitotic Arrest Deficient-Like 1 (Yeast)1 2     PIG92
TXBP1812 3 5     TP53I92
Mitotic Arrest Deficient 1-Like Protein 12 3     Mitotic Spindle Assembly Checkpoint Protein MAD12
Mitotic Checkpoint MAD1 Protein Homolog2 3     Mitotic-Arrest Deficient 1, Yeast, Homolog-Like 12
Tax-Binding Protein 1812 3     Tumor Protein P53 Inducible Protein 92
MAD12 3     HsMAD13
MAD1-Like Protein 12 3     hMAD13
MAD1 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 11     

External Ids:    HGNC: 67621   Entrez Gene: 83792   Ensembl: ENSG000000028227   OMIM: 6026865   UniProtKB: Q9Y6D93   

Export aliases for MAD1L1 gene to outside databases

Previous GC identifers: GC07M001499 GC07M001599 GC07M001628 GC07M001821


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MAD1L1 Gene:
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all
chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with
MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Three transcript variants encoding
the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MAD1L1 Gene:
MAD1L1 (MAD1 mitotic arrest deficient-like 1 (yeast)) is a protein-coding gene. Diseases associated with MAD1L1 include lymphoma, somatic, and prostate cancer, somatic.

UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9
Function: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes
are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the
correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT
promoter and represses telomerase expression, possibly by interfering with MYC binding

Gene Wiki entry for MAD1L1 (Mad1) 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAD1L1 gene promoter:
         NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): MAD1L1 promoter sequence
   Search Chromatin IP Primers for MAD1L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAD1L1


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

Entrez Gene cytogenetic band: 7p22   Ensembl cytogenetic band:  7p22.3   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)
MAD1L1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M001855:  view genomic region     (about GC identifiers)

Start:
1,855,428 bp from pter      End:
2,272,878 bp from pter
Size:
417,451 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 1,908,333-2,321,257     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 core complex.
Perturbation of the original MAD1L1-MAD2L1 structure by the spindle checkpoint may decrease MAD2L1 affinity for
MAD1L1. CDC20 can compete with MAD1L1 for MAD2L1 binding, until the attachment and/or tension dampen the
checkpoint signal, preventing further release of MAD2L1 on to CDC20. Also able to interact with the BUB1/BUB3
complex and the viral Tax protein. Interacts with NEK2. Interacts with TPR; the interactions occurs in a
microtubule-independent manner
Sequence caution: Sequence=AAC52059.1; Type=Frameshift; Positions=663;
2 PDB 3D structures from and Proteopedia for MAD1L1:
1GO4 (3D)        4DZO (3D)    
Secondary accessions: Q13312 Q75MI0 Q86UM4 Q9UNH0

Explore the universe of human proteins at neXtProt for MAD1L1: NX_Q9Y6D9

Explore proteomics data for MAD1L1 at MOPED

Post-translational modifications: 

  • Phosphorylated; by BUB1. Become hyperphosphorylated in late S through M phases or after mitotic spindle damage1
  • Ubiquitination2 at Lys625
  • Modification sites at PhosphoSitePlus

  • See MAD1L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001013858.1  NP_001013859.1  NP_003541.2  

    ENSEMBL proteins: 
     ENSP00000384155   ENSP00000382562   ENSP00000385334   ENSP00000394886   ENSP00000394069  
     ENSP00000414877   ENSP00000393037   ENSP00000397417   ENSP00000401901   ENSP00000413139  
     ENSP00000390099   ENSP00000395457   ENSP00000265854  
    Reactome Protein details: Q9Y6D9

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR008672 Mad1

    Graphical View of Domain Structure for InterPro Entry Q9Y6D9

    ProtoNet protein and cluster: Q9Y6D9

    1 Blocks protein domain: IPB008672 Mitotic checkpoint

    UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9
    Similarity: Belongs to the MAD1 family


    Find genes that share domains with MAD1L1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MD1L1_HUMAN, Q9Y6D9
    Function: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes
    are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the
    correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT
    promoter and represses telomerase expression, possibly by interfering with MYC binding
    Induction: Increased by p53/TP53

         Genatlas biochemistry entry for MAD1L1:
    mitotic arrest deficient protein 1-like 1,yeast homolog induced by TP53,essential component of the mitotic spindle
    assembly checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase
    plate,interacting as a homodimer with MAD2L1,involved in cell cycle control

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12006501
         
    Find genes that share ontologies with MAD1L1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAD1L1:
     Increased cell death in breast  Synthetic lethal with cisplati 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mad1l1):
     cellular  mortality/aging  no phenotypic analysis  tumorigenesis 

    Find genes that share phenotypes with MAD1L1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mad1l1tm1.1Ktj for MAD1L1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAD1L1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAD1L1

    miRNA
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    miRTarBase miRNAs that target MAD1L1:
    hsa-mir-20a-5p (MIRT050540), hsa-mir-149-5p (MIRT045498)

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    Inhib. RNA
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    Addgene plasmids for MAD1L1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MD1L1_HUMAN, Q9Y6D9: Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, microtubule
    organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=From the beginning to the end of mitosis,
    it is seen to move from a diffusely nuclear distribution to the centrosome, to the spindle midzone and finally to
    the midbody. Colocalizes with NEK2 at the kinetochore
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    mitochondrion4

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776colocalizes with kinetochore IDA17363900
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0005634nucleus IDA--
    GO:0005643colocalizes with nuclear pore IDA18981471
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with MAD1L1           About GenesLikeMe


    (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).
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    SuperPaths for MAD1L1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    4Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92
    5Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
    Amplification of signal from the kinetochores0.00


    Find genes that share SuperPaths with MAD1L1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for MAD1L1
        Cell cycle Spindle assembly and chromosome separation

    2 BioSystems Pathways for MAD1L1
        Cell cycle
    C-MYB transcription factor network

    4 Reactome Pathways for MAD1L1
        Resolution of Sister Chromatid Cohesion
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
    Mitotic Prometaphase
    Separation of Sister Chromatids


    3 Kegg Pathways  (Kegg details for MAD1L1):
        Cell cycle
    Progesterone-mediated oocyte maturation
    Viral carcinogenesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAD1L1
    Interactions:

        GeneGlobe Interaction Network for MAD1L1

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

    Selected Interacting proteins for MAD1L1 (Q9Y6D91, 2, 3 ENSP000003825624) via UniProtKB, MINT, STRING, and/or I2D (see all 997)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TUBGCP4Q9UGJ12, 3, ENSP000002603834MINT-68293 MINT-7947479 I2D: score=4 STRING: ENSP00000260383
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000362649
    NDC80O147772, 3, ENSP000002615974MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000261597
    HDAC2Q927692, 3, ENSP000003813314MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000381331
    TEX11Q8IYF32, 3, ENSP000003409954MINT-66279 I2D: score=5 STRING: ENSP00000340995
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000089mitotic metaphase NAS9546394
    GO:0000090mitotic anaphase NAS9546394
    GO:0000093mitotic telophase NAS9546394
    GO:0000278mitotic cell cycle TAS--
    GO:0007067mitosis IEA--

    Find genes that share ontologies with MAD1L1           About GenesLikeMe



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MAD1L1 (MD1L1)

    2 Novoseek inferred chemical compound relationships for MAD1L1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 62.3 3 9546394 (1)
    serine 0 2 12574116 (2)

    2 PharmGKB related drug/compound annotations for MAD1L1 gene    About this table
    Drug/compound PharmGKB Annotation
    carboplatinCA  
    paclitaxelCA  



    Find genes that share compounds with MAD1L1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MAD1L1 gene (3 alternative transcripts): 
    NM_001013836.1  NM_001013837.1  NM_003550.2  

    Unigene Cluster for MAD1L1:

    MAD1 mitotic arrest deficient-like 1 (yeast)
    Hs.654838  [show with all ESTs]
    Unigene Representative Sequence: AK310831
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000481633 ENST00000402746(uc003sle.1 uc003sli.1) ENST00000399654(uc003slh.1 uc003slf.1 uc003slg.1 uc010ksh.1 uc010ksi.1 uc010ksj.3)
    ENST00000406869 ENST00000468372 ENST00000496548 ENST00000477172 ENST00000450235
    ENST00000437877(uc003sld.1) ENST00000438959 ENST00000444373 ENST00000421113
    ENST00000483165 ENST00000491858 ENST00000464742 ENST00000459731 ENST00000486340
    ENST00000469871
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    Additional mRNA sequence: 

    AF083811.1 AF123318.1 AK090959.1 AK310481.1 AK310831.1 AK314227.1 BC009964.2 BC018870.2 
    U33822.1 

    24 DOTS entries:

    DT.100820801  DT.100719823  DT.101980030  DT.100708775  DT.95178583  DT.95178581  DT.95178584  DT.100724625 
    DT.95258931  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:

    AW183144 AW272458 AI806304 AW628827 BQ429811 BQ429773 BG200630 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MAD1L1 (see all 18)    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for MAD1L1

    (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)
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    MAD1L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTCCCGGAG
    MAD1L1 Expression
    About this image


    MAD1L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    MAD1L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAD1L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654838

    UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9
    Tissue specificity: Expressed weakly at G0/G1 and highly at late S and G2/M phase

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MAD1L1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mad1l11 , 5 MAD1 mitotic arrest deficient 1-like 11, 5 81.45(n)1
    81.4(a)1
      5 (78.82 cM)5
    171201  NM_010752.31  NP_034882.21 
     1400086895 
    chicken
    (Gallus gallus)
    Aves MAD1L11 MAD1 mitotic arrest deficient-like 1 (yeast) 73.18(n)
    70.01(a)
      427658  XM_004945136.1  XP_004945193.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAD1L16
    MAD1 mitotic arrest deficient-like 1 (yeast)
    63(a)
    1 ↔ 1
    GL343327.1(1345-526928)
    African clawed frog
    (Xenopus laevis)
    Amphibia mad1-A2 spindle checkpoint protein Xmad1 74.69(n)    AF126481.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc565712 similar to MAD1 mitotic arrest deficient-like 1 (yeast) 79.37(n)   393886  BC050170.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mad11 Mad1 44.97(n)
    28.93(a)
      35954  NM_136633.4  NP_610477.2 


    ENSEMBL Gene Tree for MAD1L1 (if available)
    TreeFam Gene Tree for MAD1L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAD1L1 gene

    Find genes that share paralogs with MAD1L1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for MAD1L1
    PGOHUM00000259718 PGOHUM00000249514


    (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)
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    Selected SNPs for MAD1L1 (see all 10753)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18015001,2,,4
    CA cancer cell line4 --1976415(-) ACTGCG/ACGGGC 6 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs18013681,2,,4
    C,FA cancer cell line4 --1976457(-) CCTGCA/C/GCGAGG 9 H P R mis1 ese39EA NA CSA EU 2296
    VAR_0197184
    A breast cancer cell line4--see VAR_0197182 E K mis40--------
    rs289396941,2,4
    A prostate cancer cell line4--see VAR_0197082 mis40--------
    VAR_0197104
    Lung cancer cell line4--see VAR_0197102 T A mis40--------
    VAR_0197114
    A prostate cancer cell line4--see VAR_0197112 R Q mis40--------
    VAR_0197074
    A lymphoid cancer cell line4--see VAR_0197072 S L mis40--------
    VAR_0197154
    A prostate cancer cell line4--see VAR_0197152 R C mis40--------
    VAR_0197164
    One individual with lung cancer4--see VAR_0197162 R H mis40--------
    VAR_0197144
    A breast cancer cell line4--see VAR_0197142 E K mis40--------

    HapMap Linkage Disequilibrium report for MAD1L1 (1855428 - 2105428 bp, first 250kb of MAD1L1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MAD1L1 (see all 145):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1699347CNV Deletion17803354
    esv2733812CNV Deletion23290073
    esv1656328CNV Deletion17803354
    esv2733830CNV Deletion23290073
    esv2733803CNV Deletion23290073
    esv2733804CNV Deletion23290073
    esv2733795CNV Deletion23290073
    esv2733801CNV Deletion23290073
    esv2458937CNV Deletion19546169
    dgv1114e201CNV Deletion23290073

    Human Gene Mutation Database (HGMD): MAD1L1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAD1L1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAD1L1

    (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.)
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    OMIM gene information: 602686   
    OMIM disorders: 176807  
    UniProtKB/Swiss-Prot: MD1L1_HUMAN, Q9Y6D9
  • Note=Defects in MAD1L1 are involved in the development and/or progression of various types of cancer

  • 2 diseases for MAD1L1:    
    About MalaCards
    lymphoma, somatic    prostate cancer, somatic


    Find genes that share disorders with MAD1L1           About GenesLikeMe

    3 Novoseek inferred disease relationships for MAD1L1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 19.8 2 17333263 (1)
    cancer 5.15 2 16157026 (1), 11980658 (1)
    tumors 0 10 17333263 (2), 18791270 (1), 11490301 (1)

    Genetic Association Database (GAD): MAD1L1
    Human Genome Epidemiology (HuGE) Navigator: MAD1L1 (5 documents)

    Export disorders for MAD1L1 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)
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    PubMed articles for MAD1L1 gene, integrated from 10 sources (see all 146):
    (articles sorted by number of sources associating them with MAD1L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1. (PubMed id 9546394)1, 2, 3, 9 Jin D.-Y.... Jeang K.-T. (Cell 1998)
    2. Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5. (PubMed id 10049595)1, 2, 3 Jin D.-Y....Jeang K.-T. (Genomics 1999)
    3. Phosphorylation of human MAD1 by the BUB1 kinase in vitro. (PubMed id 10198256)1, 2, 9 Seeley T.W.... Zhen J.Y. (Biochem. Biophys. Res. Commun. 1999)
    4. NEK2A interacts with MAD1 and possibly functions as a novel integrator of the spindle checkpoint signaling. (PubMed id 14978040)1, 2, 9 Lou Y.... Yao X. (J. Biol. Chem. 2004)
    5. 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)
    6. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1, 4 (Nat. Genet. 2011)
    7. Joint influence of small-effect genetic variants on human longevity. (PubMed id 20834067)1, 4 Yashin A.I....Ukraintseva S.V. (Aging (Albany NY) 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PubMed id 20889312)1, 4 Wang K.S....Aragam N. (Schizophr. Res. 2010)
    10. Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancer. (PubMed id 20516147)1, 4 Guo Y....Lin D. (J. Med. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8379 HGNC: 6762 AceView: MAD1L1 Ensembl:ENSG00000002822 euGenes: HUgn8379
    ECgene: MAD1L1 Kegg: 8379 H-InvDB: MAD1L1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MAD1L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAD1L1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAD1L1 gene:
    Search GeneIP for patents involving MAD1L1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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