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    MAD2L1BP MAD2L1 binding protein [ Homo sapiens (human) ]

    Gene ID: 9587, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MAD2L1BPprovided by HGNC
    Official Full Name
    MAD2L1 binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:21059
    See related
    Ensembl:ENSG00000124688 MIM:618136; AllianceGenome:HGNC:21059
    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
    CMT2; p31comet
    Summary
    The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 14.5), duodenum (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAD2L1BP in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43629540..43640941)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43458178..43469674)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43597277..43608678)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I and III subunit C Neighboring gene exportin 5 Neighboring gene small Cajal body-specific RNA 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:43514706-43515905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43545520-43546020 Neighboring gene DNA polymerase eta Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene GTP binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43604555-43605342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43605343-43606129 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43612192-43612380 Neighboring gene radial spoke head component 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43639230-43639862 Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43655287-43655898 Neighboring gene uncharacterized LOC124901320

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors. Abdel-Salam GMH, et al. JCI Insight, 2023 Nov 22. PMID 37796616, Free PMC Article
    2. Coordinated regulation of p31(Comet) and Mad2 expression is required for cellular proliferation. Date DA, et al. Cell Cycle, 2013 Dec 15. PMID 24131926, Free PMC Article
    3. Depletion of p31comet protein promotes sensitivity to antimitotic drugs. Ma HT, et al. J Biol Chem, 2012 Jun 15. PMID 22544748, Free PMC Article
    4. [Molecular pathogenesis of hereditary motor and sensory neuropathy]. Kotruchow K, et al. Postepy Biochem, 2011. PMID 22235654
    5. p31(comet) acts to ensure timely spindle checkpoint silencing subsequent to kinetochore attachment. Hagan RS, et al. Mol Biol Cell, 2011 Nov. PMID 21965286, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
      Title: Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
    2. 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.
    3. p31(comet) promotes homologous recombination by inactivating REV7 through the TRIP13 ATPase.
      Title: p31(comet) promotes homologous recombination by inactivating REV7 through the TRIP13 ATPase.
    4. Mitotic slippage is determined by p31(comet) and the weakening of the spindle-assembly checkpoint.
      Title: Mitotic slippage is determined by p31(comet) and the weakening of the spindle-assembly checkpoint.
    5. The phosphorylation of p31(comet) by Plk1 prevents a futile cycle of MCC assembly and disassembly during the active mitotic checkpoint.
      Title: Role of Polo-like kinase 1 in the regulation of the action of p31(comet) in the disassembly of mitotic checkpoint complexes.
    6. TRIP13-p31(comet) intercepts and disassembles free mitotic checkpoint complex not bound to anaphase-promoting complex/cyclosome through mediating the local unfolding of the Mad2 C-terminal region.
      Title: Mechanistic insight into TRIP13-catalyzed Mad2 structural transition and spindle checkpoint silencing.
    7. MAD2-p31(comet) axis may serve as a potential therapeutic target for glioma.
      Title: MAD2-p31(comet) axis deficiency reduces cell proliferation, migration and sensitivity of microtubule-interfering agents in glioma.
    8. Thes authors show that p31(comet) binding to the TRIP13 N-terminal domain positions the disordered MAD2 N-terminus for engagement by the TRIP13 "pore loops", which then unfold MAD2 in the presence of ATP.
      Title: The AAA+ ATPase TRIP13 remodels HORMA domains through N-terminal engagement and unfolding.
    9. p31comet-induced cell death is mediated by interactions with Mad2
      Title: p31comet-Induced Cell Death Is Mediated by Binding and Inactivation of Mad2.
    10. the oligomeric form of TRIP13 binds both p31(comet) and MCC
      Title: Mode of interaction of TRIP13 AAA-ATPase with the Mad2-binding protein p31comet and with mitotic checkpoint complexes.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    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, MGC11282

    Gene Ontology Provided by GOA

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of exit from mitosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    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
    Names
    caught by MAD2 protein
    p31(comet)

    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_001003690.2 → NP_001003690.1  MAD2L1-binding protein isoform 1

      See identical proteins and their annotated locations for NP_001003690.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL353602, AL537692, BC002904, BE297042, BU845738
      Consensus CDS
      CCDS47431.1
      UniProtKB/Swiss-Prot
      Q15013
      Related
      ENSP00000410818.2, ENST00000451025.6
      Conserved Domains (1) summary
      pfam06581
      Location:68 → 306
      p31comet; Mad1 and Cdc20-bound-Mad2 binding

    2. NM_014628.3 → NP_055443.1  MAD2L1-binding protein isoform 2

      See identical proteins and their annotated locations for NP_055443.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant differs in the 5' region compared to variant 1, which includes a part of the coding sequence. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      BC002904, BI255998, CB991410
      Consensus CDS
      CCDS4904.1
      UniProtKB/Swiss-Prot
      B4DLV3, E9PAT7, Q15013, Q6IBB1
      Related
      ENSP00000361244.4, ENST00000372171.5
      Conserved Domains (1) summary
      pfam06581
      Location:10 → 274
      p31comet; Mad1 and Cdc20-bound-Mad2 binding

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43629540..43640941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43458178..43469674
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356857.1 → XP_054212832.1  MAD2L1-binding protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15013.1 GenPept UniProtKB/Swiss-Prot:Q15013

    Gene LinkOut

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

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