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    Mad2l1bp MAD2L1 binding protein [ Mus musculus (house mouse) ]

    Gene ID: 66591, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mad2l1bpprovided by MGI
    Official Full Name
    MAD2L1 binding proteinprovided by MGI
    Primary source
    MGI:MGI:1913841
    See related
    Ensembl:ENSMUSG00000034509 AllianceGenome:MGI:1913841
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CMT2A; CMT2B; Mad2lbp; mKIAA0110; 0610009D16Rik; 2510031P20Rik
    Summary
    Predicted to be involved in deactivation of mitotic spindle assembly checkpoint and regulation of exit from mitosis. Predicted to act upstream of or within mitotic spindle assembly checkpoint signaling. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nucleus. Orthologous to human MAD2L1BP (MAD2L1 binding protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver E14.5 (RPKM 16.5), large intestine adult (RPKM 15.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mad2l1bp in Genome Data Viewer
    Location:
    17 C; 17 22.88 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (46458311..46464477, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (46147385..46153551, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene polymerase (RNA) II (DNA directed) polypeptide K pseudogene Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene radial spoke head 9 homolog (Chlamydomonas) Neighboring gene STARR-positive B cell enhancer ABC_E5614 Neighboring gene STARR-positive B cell enhancer ABC_E5615 Neighboring gene GTP binding protein 2 Neighboring gene polymerase (DNA directed), eta (RAD 30 related)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Biallelic variants in MAD2L1BP (p31(comet)) cause female infertility characterized by oocyte maturation arrest. Huang L, et al. Elife, 2023 Jun 19. PMID 37334967, Free PMC Article
    2. Oocyte-dependent activation of mitogen-activated protein kinase (ERK1/2) in cumulus cells is required for the maturation of the mouse oocyte-cumulus cell complex. Su YQ, et al. Dev Biol, 2003 Nov 1. PMID 14568551
    3. Mitotic Checkpoint Regulators Control Insulin Signaling and Metabolic Homeostasis. Choi E, et al. Cell, 2016 Jul 28. PMID 27374329, Free PMC Article
    4. p31comet-Induced Cell Death Is Mediated by Binding and Inactivation of Mad2. Shin HJ, et al. PLoS One, 2015. PMID 26544187, Free PMC Article
    5. Identification of a MAD2-binding protein, CMT2, and its role in mitosis. Habu T, et al. EMBO J, 2002 Dec 2. PMID 12456649, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in MAD2L1BP (p31[comet]) cause female infertility characterized by oocyte maturation arrest.
      Title: Biallelic variants in MAD2L1BP (p31(comet)) cause female infertility characterized by oocyte maturation arrest.
    2. p31comet-induced cell death is mediated by interactions with Mad2
      Title: p31comet-Induced Cell Death Is Mediated by Binding and Inactivation of Mad2.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0110

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in deactivation of mitotic spindle assembly checkpoint IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in deactivation of mitotic spindle assembly checkpoint ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mitotic spindle assembly checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in regulation of exit from mitosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of exit from mitosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MAD2L1-binding protein

    NCBI Reference Sequences (RefSeq)

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    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_025649.3 → NP_079925.2  MAD2L1-binding protein

      Status: VALIDATED

      Source sequence(s)
      AC110562, AI851249, AK004224
      Consensus CDS
      CCDS28821.1
      UniProtKB/Swiss-Prot
      Q99J05, Q9D0Y3, Q9DCX1
      UniProtKB/TrEMBL
      Q3U0U3
      Related
      ENSMUSP00000125915.2, ENSMUST00000171172.3
      Conserved Domains (1) summary
      pfam06581
      Location:41 → 276
      p31comet; Mad1 and Cdc20-bound-Mad2 binding

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      46458311..46464477 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DCX1.2 GenPept UniProtKB/Swiss-Prot:Q9DCX1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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