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Mad1l1 MAD1 mitotic arrest deficient 1-like 1 [ Mus musculus (house mouse) ]

Gene ID: 17120, updated on 5-Mar-2024

Summary

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Official Symbol
Mad1l1provided by MGI
Official Full Name
MAD1 mitotic arrest deficient 1-like 1provided by MGI
Primary source
MGI:MGI:1341857
See related
Ensembl:ENSMUSG00000029554 AllianceGenome:MGI:1341857
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
Mad1
Summary
Predicted to enable identical protein binding activity and kinetochore binding activity. Acts upstream of or within negative regulation of T cell proliferation; regulation of mitotic cell cycle phase transition; and thymus development. Located in cytoplasm; kinetochore; and spindle pole. Human ortholog(s) of this gene implicated in lymphoma and prostate cancer. Orthologous to human MAD1L1 (mitotic arrest deficient 1 like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 39.3), ovary adult (RPKM 12.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
5 G2; 5 78.82 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (139994444..140307346, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (140008689..140321608, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38727 Neighboring gene leucine rich repeat and fibronectin type III, extracellular 1 Neighboring gene predicted gene, 30492 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140619500-140619609 Neighboring gene STARR-seq mESC enhancer starr_14706 Neighboring gene STARR-seq mESC enhancer starr_14707 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140684659-140684995 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140686457-140686707 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140691391-140691751 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140736675-140736858 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140740159-140740368 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140747294-140747554 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140758495-140758709 Neighboring gene STARR-positive B cell enhancer ABC_E6391 Neighboring gene STARR-seq mESC enhancer starr_14708 Neighboring gene nudix hydrolase 1 Neighboring gene STARR-positive B cell enhancer ABC_E9018 Neighboring gene STARR-positive B cell enhancer ABC_E9267 Neighboring gene mitochondrial rRNA methyltransferase 2 Neighboring gene sorting nexin 8

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. Localization of mitotic arrest deficient 1 (MAD1) in mouse oocytes during the first meiosis and its functions as a spindle checkpoint protein. Zhang D, et al. Biol Reprod, 2005 Jan. PMID 15342357
  2. Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates the polarity of migrating neurons in the developing neocortex. Goo BS, et al. Mol Psychiatry, 2023 Feb. PMID 36357673, Free PMC Article
  3. Heterozygous deletion of mitotic arrest-deficient protein 1 (MAD1) increases the incidence of tumors in mice. Iwanaga Y, et al. Cancer Res, 2007 Jan 1. PMID 17210695
  4. Negative cell-cycle regulators cooperatively control self-renewal and differentiation of haematopoietic stem cells. Walkley CR, et al. Nat Cell Biol, 2005 Feb. PMID 15654333
  5. Expression of Mad1 in T cells leads to reduced thymic cellularity and impaired mitogen-induced proliferation. Rudolph B, et al. Oncogene, 2001 Mar 8. PMID 11313860

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates the polarity of migrating neurons in the developing neocortex.
    Title: Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates the polarity of migrating neurons in the developing neocortex.
  2. the simultaneous knockdown of p18, p27 and MAD1 with a medium of only stem cell factor can induce long-term culture-initiating cell expansion despite the loss of engraftment ability
    Title: Simultaneous knockdown of p18INK4C, p27Kip1 and MAD1 via RNA interference results in the expansion of long-term culture-initiating cells of murine bone marrow cells in vitro.
  3. MAD1 is present in mouse oocytes at all stages during the first meiosis and that it participates in spindle checkpoint during meiosis
    Title: Localization of mitotic arrest deficient 1 (MAD1) in mouse oocytes during the first meiosis and its functions as a spindle checkpoint protein.
  4. Together these data demonstrate that the MYC-antagonist MAD1 and cyclin-dependent kinase inhibitor p27(Kip1) cooperate to regulate the self-renewal and differentiation of HSCs in a context-dependent manner.
    Title: Negative cell-cycle regulators cooperatively control self-renewal and differentiation of haematopoietic stem cells.
  5. MAD1 and Proto-Oncogene Proteins c-myc reciprocally regulate ribosomal DNA transcription, providing a mechanism for coordination of ribosome biogenesis and cell growth
    Title: MAD1 and c-MYC regulate UBF and rDNA transcription during granulocyte differentiation.
  6. Data show that the loss of Trrap leads to chromosome missegregation, mitotic exit failure and compromised mitotic checkpoints, which are caused by defective Trrap-mediated transcription of the mitotic checkpoint proteins Mad1 and Mad2.
    Title: HAT cofactor Trrap regulates the mitotic checkpoint by modulation of Mad1 and Mad2 expression.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

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

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables kinetochore binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in attachment of mitotic spindle microtubules to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in cytoplasmic sequestering of protein ISO
Inferred from Sequence Orthology
more info
  
involved_in deactivation of mitotic spindle assembly checkpoint ISO
Inferred from Sequence Orthology
more info
  
involved_in mitotic spindle assembly checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic spindle assembly checkpoint signaling ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of metaphase plate congression ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of mitotic cell cycle phase transition IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within thymus development IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of MAD1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of MAD1 complex ISO
Inferred from Sequence Orthology
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with kinetochore ISO
Inferred from Sequence Orthology
more info
  
located_in kinetochore ISO
Inferred from Sequence Orthology
more info
  
is_active_in mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitotic spindle ISO
Inferred from Sequence Orthology
more info
  
part_of mitotic spindle assembly checkpoint MAD1-MAD2 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of mitotic spindle assembly checkpoint MAD1-MAD2 complex ISO
Inferred from Sequence Orthology
more info
  
colocalizes_with mitotic spindle pole ISO
Inferred from Sequence Orthology
more info
  
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with nuclear envelope ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
  
part_of nuclear pore nuclear basket ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitotic spindle assembly checkpoint protein MAD1
Names
MAD1-like protein 1
mitotic arrest deficient 1-like 1
mitotic arrest deficient 1-like protein 1

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_001359025.1 → NP_001345954.1  mitotic spindle assembly checkpoint protein MAD1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC121856, AC131670, AC137511, AC145748
    Consensus CDS
    CCDS19817.1
    UniProtKB/Swiss-Prot
    Q9WTX8, Q9WTX9
    Conserved Domains (1) summary
    pfam05557
    Location:54 → 715
    MAD; Mitotic checkpoint protein

  2. NM_001359027.1 → NP_001345956.1  mitotic spindle assembly checkpoint protein MAD1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC121856, AC145748
    UniProtKB/TrEMBL
    Q3TDV6
    Related
    ENSMUST00000199237.5
    Conserved Domains (1) summary
    cl25732
    Location:29 → 292
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_010752.3 → NP_034882.2  mitotic spindle assembly checkpoint protein MAD1 isoform a

    See identical proteins and their annotated locations for NP_034882.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AF083812, BI735882
    Consensus CDS
    CCDS19817.1
    UniProtKB/Swiss-Prot
    Q9WTX8, Q9WTX9
    Related
    ENSMUSP00000031534.7, ENSMUST00000031534.9
    Conserved Domains (1) summary
    pfam05557
    Location:54 → 715
    MAD; Mitotic checkpoint protein

RNA

  1. NR_152617.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC131670, AF083813
    Related
    ENSMUST00000110829.7

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    139994444..140307346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006504652.5 → XP_006504715.1  mitotic spindle assembly checkpoint protein MAD1 isoform X4

    Conserved Domains (1) summary
    pfam05557
    Location:54 → 668
    MAD; Mitotic checkpoint protein

  2. XM_036164843.1 → XP_036020736.1  mitotic spindle assembly checkpoint protein MAD1 isoform X5

    Conserved Domains (1) summary
    pfam05557
    Location:19 → 355
    MAD; Mitotic checkpoint protein

  3. XM_036164841.1 → XP_036020734.1  mitotic spindle assembly checkpoint protein MAD1 isoform X3

    Conserved Domains (1) summary
    pfam05557
    Location:54 → 618
    MAD; Mitotic checkpoint protein

  4. XM_036164842.1 → XP_036020735.1  mitotic spindle assembly checkpoint protein MAD1 isoform X3

    Conserved Domains (1) summary
    pfam05557
    Location:54 → 618
    MAD; Mitotic checkpoint protein

  5. XM_036164838.1 → XP_036020731.1  mitotic spindle assembly checkpoint protein MAD1 isoform X1

    Conserved Domains (1) summary
    pfam05557
    Location:54 → 665
    MAD; Mitotic checkpoint protein

  6. XM_036164839.1 → XP_036020732.1  mitotic spindle assembly checkpoint protein MAD1 isoform X1

    Conserved Domains (1) summary
    pfam05557
    Location:54 → 665
    MAD; Mitotic checkpoint protein

  7. XM_036164840.1 → XP_036020733.1  mitotic spindle assembly checkpoint protein MAD1 isoform X2

    Conserved Domains (1) summary
    pfam05557
    Location:54 → 665
    MAD; Mitotic checkpoint protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9WTX8.1 GenPept UniProtKB/Swiss-Prot:Q9WTX8

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