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

Summary

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Official Symbol: Mad2l1provided by MGI
Official Full Name: MAD2 mitotic arrest deficient-like 1provided by MGI
Primary source: MGI:1860374
See related: Ensembl:ENSMUSG00000029910; Vega:OTTMUSG00000023406
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MAD2; AA673185

Genomic context

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Location :: 6 C1; 6 30.56 cM

Sequence :: Chromosome: 6; NC_000072.6 (66535468..66540991)

See Mad2l1 in Epigenomics, MapViewer

Chromosome 6 - NC_000072.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Data show that Mad2 haploinsufficiency is protective in the presence of a cycle-specific DNA synthesis agent in vivo, and Ape1/Ref-1 inhibitor in vitro.
Title: Mad2 haploinsufficiency protects hematopoietic progenitor cells subjected to cell-cycle stress in vivo and to inhibition of redox function of Ape1/Ref-1 in vitro.
Pcid2 is essential for B cell survival through the regulation of MAD2 expression during B cell differentiation
Title: Critical role of Pcid2 in B cell survival through the regulation of MAD2 expression.
tumours that experience transient Mad2 overexpression and consequent chromosome instability recur at markedly elevated rates
Title: Mad2-induced chromosome instability leads to lung tumour relapse after oncogene withdrawal.
Mad2 is involved in synergistic growth of immature hematopoietic progenitor cells in response to stem cell factor plus Granulocyte-Macrophage Colony-Stimulating Factor
Title: Mad2 is required for optimal hematopoiesis: Mad2 associates with c-Kit in MO7e cells.
Our results provide further evidence for the role of MAD2 as a spindle checkpoint protein in mouse oocytes.
Title: RNA Interference as a tool to study the function of MAD2 in mouse oocyte meiotic maturation.
a functional Mad2-dependent spindle checkpoint exists during the first meiotic division in mammalian oocytes
Title: Metaphase I arrest upon activation of the Mad2-dependent spindle checkpoint in mouse oocytes.
Data suggest that Mad2 and BubR1 must cooperate to inhibit Cdc20 activity.
Title: Spindle checkpoint function requires Mad2-dependent Cdc20 binding to the Mad3 homology domain of BubR1.
that Brca1(Delta11/Delta11) cells displayed decreased expression of a number of genes that are involved in the spindle checkpoint, including Mad2
Title: A requirement for breast-cancer-associated gene 1 (BRCA1) in the spindle checkpoint.
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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Alleles

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

Targeted (knock-out) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:207818	BioGRID:106700	AHSG	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:122229	ANAPC1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:118982	ANAPC4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:119537	ANAPC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:119538	ANAPC7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:123924	ANTXR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:115118	BCLAF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:107166	BUB1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:127149	C1orf52	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:114400	CDC16	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:107427	CDC20	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:114242	CDC23	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:128878	CDC26	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:107431	CDC27	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:109534	DNAJA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:203183	Foxp3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:109854	INSR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:235913	Iqcb1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:115418	KIF20A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:124714	KNSTRN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:113971	MAD1L1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:110260	MAD2L1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:114955	MAD2L1BP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:116335	NUDT5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:111887	RCN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:115292	THRAP3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:117543	TOR1AIP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:113028	TPR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:116624	TPX2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:207818	BioGRID:113134	TUBG1	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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APC/C-mediated degradation of cell cycle proteins, organism-specific biosystem (from REACTOME)
APC/C-mediated degradation of cell cycle proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, organism-specific biosystem (from REACTOME)
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Amplification of signal from the kinetochores, organism-specific biosystem (from REACTOME)
Amplification of signal from the kinetochores, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
Cell Cycle Checkpoints, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
Cell Cycle, Mitotic, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cell cycle, organism-specific biosystem (from KEGG)
Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
Cell cycle, organism-specific biosystem (from WikiPathways)
Cell cycle, organism-specific biosystem(From http://en.wikipedia.org/wiki/Cell_cycle) The cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle in...
Cell cycle, conserved biosystem (from KEGG)
Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
Cell cycle signaling pathway, organism-specific biosystem (from LIPID MAPS)
Cell cycle signaling pathway, organism-specific biosystem
Cell cycle signaling pathway
HTLV-I infection, organism-specific biosystem (from KEGG)
HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
HTLV-I infection, conserved biosystem (from KEGG)
HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystem (from REACTOME)
Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystem (from REACTOME)
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystemcomputationally inferred pathway (not manually curated)
M Phase, organism-specific biosystem (from REACTOME)
M Phase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic Anaphase, organism-specific biosystem (from REACTOME)
Mitotic Anaphase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
Mitotic Metaphase and Anaphase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
Mitotic Prometaphase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic Spindle Checkpoint, organism-specific biosystem (from REACTOME)
Mitotic Spindle Checkpoint, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Oocyte meiosis, organism-specific biosystem (from KEGG)
Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
Oocyte meiosis, conserved biosystem (from KEGG)
Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
Progesterone-mediated oocyte maturation, organism-specific biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
Progesterone-mediated oocyte maturation, conserved biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystem (from REACTOME)
Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Regulation of mitotic cell cycle, organism-specific biosystem (from REACTOME)
Regulation of mitotic cell cycle, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
Resolution of Sister Chromatid Cohesion, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
Separation of Sister Chromatids, organism-specific biosystemcomputationally inferred pathway (not manually curated)

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

Homology

Homologs of the Mad2l1 gene: The Mad2l1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
cell cycle	IEA Inferred from Electronic Annotation more info
cell division	IEA Inferred from Electronic Annotation more info
mitosis	IEA Inferred from Electronic Annotation more info
mitotic cell cycle checkpoint	ISO Inferred from Sequence Orthology more info
mitotic sister chromatid segregation	IMP Inferred from Mutant Phenotype more info	PubMed
mitotic spindle assembly checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
mitotic spindle assembly checkpoint	ISA Inferred from Sequence Alignment more info	PubMed
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info
negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
negative regulation of mitotic anaphase-promoting complex activity	ISO Inferred from Sequence Orthology more info
negative regulation of mitotic metaphase/anaphase transition	TAS Traceable Author Statement more info	PubMed
negative regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP Inferred from Mutant Phenotype more info
positive regulation of mitotic cell cycle spindle assembly checkpoint	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
chromosome	IEA Inferred from Electronic Annotation more info
chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	ISO Inferred from Sequence Orthology more info
kinetochore	IDA Inferred from Direct Assay more info	PubMed
kinetochore	ISO Inferred from Sequence Orthology more info
mitotic spindle	ISO Inferred from Sequence Orthology more info
nucleus	ISO Inferred from Sequence Orthology more info
perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
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: mitotic spindle assembly checkpoint protein MAD2A; MAD2-like protein 1; mitotic arrest deficient 2-like protein 1; MAD2 (mitotic arrest deficient, homolog)-like 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_019499.4 → NP_062372.2 mitotic spindle assembly checkpoint protein MAD2A

Status: PROVISIONAL

Source sequence(s)

AC122874

Consensus CDS

CCDS20210.1

UniProtKB/TrEMBL

Q5HZH8

UniProtKB/Swiss-Prot

Q9Z1B5

Related

ENSMUSP00000098897, OTTMUSP00000027374, ENSMUST00000101343, OTTMUST00000056851

Conserved Domains (1) summary

pfam02301
Location:12 – 191
Blast Score: 469

HORMA; HORMA domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000072.6 Reference GRCm38.p1 C57BL/6J

Range

66535468..66540991

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000028.1 Alternate Mm_Celera

Range

68657930..68663453

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01053939.1 (82069..87592)	None
genomic	AC122874.2 (79333..84857)	None
genomic	AF259902.1	None	129
genomic	AF261919.1	AAF69525.1	129
genomic	AF261920.1	None	129
genomic	AF261921.1	None	129
genomic	CH466523.1	EDK98785.1	mixed
mRNA	AK008638.1	BAB25799.1	C57BL/6J
mRNA	AK010401.1	None	C57BL/6J
mRNA	AK012590.1	BAB28338.1	C57BL/6J
mRNA	AK082934.1	BAC38700.1	C57BL/6J
mRNA	AK160286.1	BAE35726.1	C57BL/6J
mRNA	AK166065.1	None
mRNA	BC089012.1	AAH89012.1	C57BL/6
mRNA	U83902.1	AAD09238.1	C57BL/6J