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

Summary

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. Part of MAD1 complex and mitotic spindle assembly checkpoint MAD1-MAD2 complex. Is expressed in brain; cerebral cortex; future brain; hippocampus; and telencephalon. Human ortholog(s) of this gene implicated in lymphoma; mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition; and prostate cancer. Orthologous to human MAD1L1 (mitotic arrest deficient 1 like 1). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MAD1 upregulation sensitizes to inflammation-mediated tumor formation.
Title: MAD1 upregulation sensitizes to inflammation-mediated tumor formation.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Dcr21 (e-PCR), detects polymorphism
- UniSTS:507723

D5Dcr22 (e-PCR), detects polymorphism
- UniSTS:507724

D5Dcr23 (e-PCR), detects polymorphism
- UniSTS:507725

AW550425 (e-PCR)
- UniSTS:179307

NoName (e-PCR)
- UniSTS:224693

AI173502 (e-PCR)
- UniSTS:159469

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinetochore binding	ISO Inferred from Sequence Orthology more info
enables kinetochore binding	ISS Inferred from Sequence or Structural Similarity 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
involved_in 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
involved_in mitotic spindle assembly checkpoint signaling	ISS Inferred from Sequence or Structural Similarity 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 positive regulation of mitotic cell cycle spindle assembly checkpoint	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of metaphase plate congression	ISO Inferred from Sequence Orthology more info
involved_in regulation of metaphase plate congression	ISS Inferred from Sequence or Structural Similarity 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 centrosome	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 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
located_in kinetochore	ISS Inferred from Sequence or Structural Similarity 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
located_in mitotic spindle	ISS Inferred from Sequence or Structural Similarity 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
colocalizes_with mitotic spindle pole	ISS Inferred from Sequence or Structural Similarity 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
colocalizes_with nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
part_of nuclear pore nuclear basket	ISO Inferred from Sequence Orthology more info
part_of nuclear pore nuclear basket	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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)

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
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
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

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

139994444..140307346 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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