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MAD2L1BP MAD2L1 binding protein [ Homo sapiens (human) ]

Gene ID: 9587, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43629540..43640941)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43458178..43469674)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43597277..43608678)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes 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 RNA polymerase I and III subunit C Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene exportin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 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 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 DNA polymerase eta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24612 Neighboring gene uncharacterized LOC124901320 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43655287-43655898 Neighboring gene GTP binding protein 2 Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene radial spoke head component 9

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
  • 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. 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
  2. Depletion of p31comet protein promotes sensitivity to antimitotic drugs. Ma HT, et al. J Biol Chem, 2012 Jun 15. PMID 22544748, Free PMC Article
  3. [Molecular pathogenesis of hereditary motor and sensory neuropathy]. Kotruchow K, et al. Postepy Biochem, 2011. PMID 22235654
  4. 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
  5. Mitotic slippage is determined by p31(comet) and the weakening of the spindle-assembly checkpoint. Lok TM, et al. Oncogene, 2020 Mar. PMID 32029899, Free PMC Article

See all (63) 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)

Genotypes

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_2023_10

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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