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    MAD2L1BP MAD2L1 binding protein [ Homo sapiens (human) ]

    Gene ID: 9587, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    MAD2L1-binding protein
    Names
    caught by MAD2 protein
    p31(comet)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001003690.2NP_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:68306
      p31comet; Mad1 and Cdc20-bound-Mad2 binding
    2. NM_014628.3NP_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:10274
      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_054356857.1XP_054212832.1  MAD2L1-binding protein isoform X1