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    MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) [ Homo sapiens (human) ]

    Gene ID: 4085, updated on 28-Jun-2015
    Official Symbol
    MAD2L1provided by HGNC
    Official Full Name
    MAD2 mitotic arrest deficient-like 1 (yeast)provided by HGNC
    Primary source
    HGNC:HGNC:6763
    See related
    HPRD:03274; MIM:601467
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAD2; HSMAD2
    Summary
    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]
    Orthologs
    See MAD2L1 in Epigenomics, MapViewer
    Location:
    4q27
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (120059422..120066858, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120980577..120988013, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1365 Neighboring gene uncharacterized LOC100996694 Neighboring gene LTV1 ribosome biogenesis factor pseudogene 1 Neighboring gene SAR1 homolog A (S. cerevisiae) pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
    NHGRI GWA Catalog
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Activation of the spindle checkpoint proteins MAD2, BUB1, and BUBR1 is necessary for the activity of HIV-1 Tat to induce mitotic arrest and subsequent apoptosis PubMed

    Go to the HIV-1, Human Interaction Database

    • APC-Cdc20 mediated degradation of Nek2A, organism-specific biosystem (from REACTOME)
      APC-Cdc20 mediated degradation of Nek2A, organism-specific biosystemLike Cyclin A, NIMA-related kinase 2A (Nek2A) is degraded during pro-metaphase in a checkpoint-independent manner.
    • APC/C-mediated degradation of cell cycle proteins, organism-specific biosystem (from REACTOME)
      APC/C-mediated degradation of cell cycle proteins, organism-specific biosystemThe Anaphase Promoting Complex or Cyclosome (APC/C) functions during mitosis to promote sister chromatid separation and mitotic exit through the degradation of mitotic cyclins and securin. This compl...
    • APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
      APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemFollowing phosphorylation of the APC/C core subunits by mitotic kinases, the activating protein, Cdc20 is recruited to the APC and promotes the multiubiquitination and subsequent degradation of the ...
    • APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint, organism-specific biosystem (from REACTOME)
      APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint, organism-specific biosystemAPC:CDC20 mediates the degradation of a number of cell cycle proteins including Cyclin A and Nek2A.
    • Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
      Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemAPC/C:Cdc20 is first activated at the prometaphase/metaphase transition through phosphorylation of core subunits of the APC/C by mitotic kinases as well as recruitment of the APC/C activator protein ...
    • Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, organism-specific biosystem (from REACTOME)
      Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, organism-specific biosystemThe signal from unattached kinetochores is amplified through a Mad2 inhibitory signal that is propagated by the binding of Mad1 to the kinetochore, the association of Mad2 with Mad1, the conversion o...
    • Amplification of signal from the kinetochores, organism-specific biosystem (from REACTOME)
      Amplification of signal from the kinetochores, organism-specific biosystemA single unattached kinetochore is capable of preventing cells from exiting mitosis. The mitotic checkpoint provides a way for a localized defect to affect the global biochemical status of the cell...
    • Cdc20:Phospho-APC/C mediated degradation of Cyclin A, organism-specific biosystem (from REACTOME)
      Cdc20:Phospho-APC/C mediated degradation of Cyclin A, organism-specific biosystemCyclin A, functions in mitosis as well as DNA replication and is degraded in the interim by the APC/C to permit normal chromosome segregation, cell division, and the onset of S phase (see Lukas an...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystem (from REACTOME)
      Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystemIn the direct inhibition model, the cytosolic Mitotic Checkpoint Complex, consisting of hBUBR1, hBUB3, Cdc20 and Mad2, directly inhibits APC/C by binding to it.
    • Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystem (from REACTOME)
      Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystemThe target of the mitotic checkpoint is the Anaphase Promoting Complex/Cyclosome (APC/C) an E3 ubiquitin ligase that targets proteins whose destruction is essential for mitotic exit. Currently, there...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
    • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
    • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
      Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
    • Mitotic Spindle Checkpoint, organism-specific biosystem (from REACTOME)
      Mitotic Spindle Checkpoint, organism-specific biosystemThe mitotic checkpoint or spindle assembly checkpoint is an evolutionarily conserved mechanism that ensures that cells with misaligned chromosomes do not exit mitosis and divide to form aneuploid cel...
    • Oocyte meiosis, organism-specific biosystem (from KEGG)
      Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Oocyte meiosis, conserved biosystem (from KEGG)
      Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
      Progesterone-mediated oocyte maturation, organism-specific biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
    • Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
      Progesterone-mediated oocyte maturation, conserved biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
    • Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystem (from REACTOME)
      Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystemThe APC/C is activated by either Cdc20 or Cdh1. While both activators associate with the APC/C, they do so at different points in the cell cycle and their binding is regulated differently (see Zacha...
    • Regulation of mitotic cell cycle, organism-specific biosystem (from REACTOME)
      Regulation of mitotic cell cycle, organism-specific biosystem
      Regulation of mitotic cell cycle
    • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
      Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
    • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
      Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    condensed chromosome kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nuclear pore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle pole IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    mitotic spindle assembly checkpoint protein MAD2A
    Names
    mitotic spindle assembly checkpoint protein MAD2A
    MAD2 (mitotic arrest deficient, yeast, homolog)-like 1
    MAD2-like protein 1
    mitotic arrest deficient 2-like protein 1
    mitotic arrest deficient, yeast, homolog-like 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002358.3NP_002349.1  mitotic spindle assembly checkpoint protein MAD2A

      See identical proteins and their annotated locations for NP_002349.1

      Status: REVIEWED

      Source sequence(s)
      AA443733, AK223433, AK313827, BC000356
      Consensus CDS
      CCDS3715.1
      UniProtKB/Swiss-Prot
      Q13257
      Conserved Domains (1) summary
      pfam02301
      Location:12191
      HORMA; HORMA domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      120059422..120066858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      120957099..120964533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)