Mad2l1 MAD2 mitotic arrest deficient-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mad2l1provided by MGI
Official Full Name: MAD2 mitotic arrest deficient-like 1provided by MGI
Primary source: MGI:MGI:1860374
See related: Ensembl:ENSMUSG00000029910 AllianceGenome:MGI:1860374
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: MAD2
Summary: Predicted to enable protein C-terminus binding activity and protein homodimerization activity. Involved in negative regulation of apoptotic process and positive regulation of mitotic cell cycle spindle assembly checkpoint. Acts upstream of or within mitotic sister chromatid segregation and mitotic spindle assembly checkpoint signaling. Located in several cellular components, including kinetochore; nucleus; and spindle pole. Is expressed in several structures, including central nervous system; genitourinary system; and retina. Orthologous to human MAD2L1 (mitotic arrest deficient 2 like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver E14 (RPKM 32.4), CNS E11.5 (RPKM 26.2) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C1; 6 30.56 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (66512205..66518091)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (66535221..66541107)

Chromosome 6 - NC_000072.7 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?

MAD2-Dependent Insulin Receptor Endocytosis Regulates Metabolic Homeostasis.
Title: MAD2-Dependent Insulin Receptor Endocytosis Regulates Metabolic Homeostasis.
Inhibition of MAD2L1 Mediates Pulmonary Fibrosis through Impairment of Mitochondrial Function and Induction of Cell Senescence.
Title: Inhibition of MAD2L1 Mediates Pulmonary Fibrosis through Impairment of Mitochondrial Function and Induction of Cell Senescence.
Acute systemic loss of Mad2 leads to intestinal atrophy in adult mice.
Title: Acute systemic loss of Mad2 leads to intestinal atrophy in adult mice.
immunofluorescence staining for mitotic arrest deficient 2-like 1 and the protein kinase TTK, components of the spindle assembly checkpoint (SAC), suggested that this delay possibly involved SAC activation.
Title: Oxidative Stress Delays Prometaphase/Metaphase of the First Cleavage in Mouse Zygotes via the MAD2L1-Mediated Spindle Assembly Checkpoint.
Mad2-positive tumors have a higher frequency of developing persistent subclones that avoid remission and continue to grow.
Title: Negative Selection and Chromosome Instability Induced by Mad2 Overexpression Delay Breast Cancer but Facilitate Oncogene-Independent Outgrowth.
reduced MAD2 levels attenuate the apoptotic response to mis-segregating sex chromosomes and allow the formation of aneuploid sperm.
Title: Reduced MAD2 levels dampen the apoptotic response to non-exchange sex chromosomes and lead to sperm aneuploidy.
p31comet-induced cell death is mediated by interactions with Mad2
Title: p31comet-Induced Cell Death Is Mediated by Binding and Inactivation of Mad2.
study shows that Mad2 is a novel substrate for CCP6 in megakaryocytes; Mad2 polyglutamylation plays a crucial role in the regulation of megakaryopoiesis
Title: Cytosolic carboxypeptidase CCP6 is required for megakaryopoiesis by modulating Mad2 polyglutamylation.
Exacerbating chromosome missegregation in CENP-E+/- mice by reducing levels of another mitotic checkpoint component, Mad2, results in elevated cell death and decreased tumor formation compared with reduction of either protein alone.
Title: Chromosome missegregation rate predicts whether aneuploidy will promote or suppress tumors.
Mad2 is also repressed by p53 and its upregulation is required for chromosome instability in a p53 mutant tumor model
Title: Mad2 is a critical mediator of the chromosome instability observed upon Rb and p53 pathway inhibition.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236555

RH124336 (e-PCR)
- UniSTS:161158

Mad2l1 (e-PCR), detects polymorphism
- UniSTS:225980

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
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 establishment of centrosome localization	ISO Inferred from Sequence Orthology more info
involved_in establishment of mitotic spindle orientation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitotic cell cycle checkpoint signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitotic sister chromatid segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitotic spindle assembly checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitotic spindle assembly checkpoint signaling	ISA Inferred from Sequence Alignment more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	ISO Inferred from Sequence Orthology more info
involved_in mitotic spindle assembly checkpoint signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of mitotic metaphase/anaphase transition	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology 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
part_of mitotic checkpoint complex	ISO Inferred from Sequence Orthology 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
part_of nuclear pore nuclear basket	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	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 MAD2A

Names: MAD2 (mitotic arrest deficient, homolog)-like 1; MAD2-like protein 1; mitotic arrest deficient 2-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_001355624.1 → NP_001342553.1 mitotic spindle assembly checkpoint protein MAD2A

Status: VALIDATED

Source sequence(s)

AC122874

Consensus CDS

CCDS20210.1

UniProtKB/Swiss-Prot

Q9JI53, Q9Z1B5

UniProtKB/TrEMBL

Q3TV93, Q5HZH8

Related

ENSMUSP00000112304.2, ENSMUST00000116605.8

Conserved Domains (1) summary

pfam02301
Location:16 → 191

HORMA; HORMA domain
NM_019499.5 → NP_062372.2 mitotic spindle assembly checkpoint protein MAD2A

See identical proteins and their annotated locations for NP_062372.2

Status: VALIDATED

Source sequence(s)

AC122874

Consensus CDS

CCDS20210.1

UniProtKB/Swiss-Prot

Q9JI53, Q9Z1B5

UniProtKB/TrEMBL

Q3TV93, Q5HZH8

Related

ENSMUSP00000098897.2, ENSMUST00000101343.2

Conserved Domains (1) summary

pfam02301
Location:16 → 191

HORMA; HORMA domain