ENSMUSG00000029910


Mus musculus

Features
Gene ID: ENSMUSG00000029910
  
Biological name :Mad2l1
  
Synonyms : Mad2l1 / Mitotic spindle assembly checkpoint protein MAD2A / Q9Z1B5
  
Possible biological names infered from orthology : mitotic arrest deficient 2 like 1 / Q13257
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: C1
Gene start: 66535390
Gene end: 66547220
  
Corresponding Affymetrix probe sets: 10538832 (MoGene1.0st)   1422460_at (Mouse Genome 430 2.0 Array)   1443171_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000098897
Ensembl peptide - ENSMUSP00000112304
NCBI entrez gene - 56150     See in Manteia.
MGI - MGI:1860374
RefSeq - XM_006506406
RefSeq - NM_019499
RefSeq Peptide - NP_062372
RefSeq Peptide - NP_001342553
swissprot - Q5HZH8
swissprot - Q9Z1B5
Ensembl - ENSMUSG00000029910
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mad2l1ENSDARG00000004713Danio rerio
 MAD2L1ENSGALG00000011967Gallus gallus
 MAD2L1ENSG00000164109Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003511  HORMA domain
 IPR027097  Mitotic spindle checkpoint protein Mad2
 IPR036570  HORMA domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000070 mitotic sister chromatid segregation IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007093 mitotic cell cycle checkpoint ISO
 biological_processGO:0007094 mitotic spindle assembly checkpoint ISA
 biological_processGO:0042177 negative regulation of protein catabolic process ISS
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0045841 negative regulation of mitotic metaphase/anaphase transition TAS
 biological_processGO:0045930 negative regulation of mitotic cell cycle ISO
 biological_processGO:0051301 cell division IEA
 biological_processGO:0090267 positive regulation of mitotic cell cycle spindle assembly checkpoint ISO
 biological_processGO:1904667 negative regulation of ubiquitin protein ligase activity ISO
 cellular_componentGO:0000775 chromosome, centromeric region IDA
 cellular_componentGO:0000776 kinetochore ISO
 cellular_componentGO:0000777 condensed chromosome kinetochore IEA
 cellular_componentGO:0000922 spindle pole IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005643 nuclear pore ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005694 chromosome IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISS
 cellular_componentGO:0072686 mitotic spindle ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0042803 protein homodimerization activity ISO


Pathways (from Reactome)
Pathway description
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
Inactivation of APC/C via direct inhibition of the APC/C complex
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
APC/C:Cdc20 mediated degradation of mitotic proteins
APC-Cdc20 mediated degradation of Nek2A
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000377 abnormal hair follicle "malformed invagination of the epidermis from which the hair shaft develops" [J:65031]
Show

Allelic Composition: Gt(ROSA)26Sortm1Fan/Gt(ROSA)26Sortm1Fan,Tg(T-cre)1Lwd/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1Fan/Gt(ROSA)26Sortm1Fan,Tg(T-cre)1Lwd/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
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Allelic Composition: Gt(ROSA)26Sortm1Fan/Gt(ROSA)26Sortm1Fan,Tg(T-cre)1Lwd/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
Show

Allelic Composition: Htttm1Mem/Htttm7Mem
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * CD-1

 MP:0002021 increased incidence of induced tumors "higher than normal frequency of tumor incidence induced by a carcinogen or mutagen" [J:44427]
Show

Allelic Composition: Bub3tm1Jvd/Bub3+,Rae1tm1Jvd/Rae1+
Genetic Background: Not Specified

 MP:0002027 lung adenocarcinoma "malignant neoplasm of epithelial cells in the lung" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:18542]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0003815 nude "having no hair at some time during or throughout lifespan, generally referring to primary genetic hairlessness" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1Fan/Gt(ROSA)26Sortm1Fan,Tg(T-cre)1Lwd/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0004023 abnormal chromosome number "chromosome count is other than the expected diploid chromosome number" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Bub3tm1Jvd/Bub3+,Rae1tm1Jvd/Rae1+
Genetic Background: Not Specified

Allelic Composition: Mad1l1tm1.1Ktj/Mad1l1+,Mad2l1tm1Sorg/Mad2l1+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6J

 MP:0004024 aneuploidy "chromosome count is not an exact multiple of the haploid number " [llw2:Linda Washburn , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bub3tm1Jvd/Bub3+,Rae1tm1Jvd/Rae1+
Genetic Background: Not Specified

Allelic Composition: Mad1l1tm1.1Ktj/Mad1l1+,Mad2l1tm1Sorg/Mad2l1+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6J

Allelic Composition: Mad2l1tm2Sorg/Mad2l1tm2Sorg,Tg(KRT14-cre)1Amc/?
Genetic Background: Not Specified

 MP:0004028 chromosome breakage "chromosome instability in the from of increased frequency of spontaneous breakage with or without rearrangements" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004046 abnormal mitosis "anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004965 inner cell mass degeneration 
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0005501 abnormal skin physiology "atypical function of the membranous protective covering of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1Fan/Gt(ROSA)26Sortm1Fan,Tg(T-cre)1Lwd/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bub3tm1Jvd/Bub3+,Rae1tm1Jvd/Rae1+
Genetic Background: Not Specified

Allelic Composition: Mad1l1tm1.1Ktj/Mad1l1+,Mad2l1tm1Sorg/Mad2l1+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6J

 MP:0008481 increased spleen germinal center number "greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0008866 chromosomal instability "abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:12446840]
Show

Allelic Composition: Tbc1d4tm1.2Arte/Tbc1d4tm1.2Arte
Genetic Background: involves: C57BL/6 * CBA

 MP:0009762 abnormal mitotic spindle assembly checkpoint "an anomaly in the process that normally prevents inaccurate segregation of chromosome by inhibiting cell-cycle progression in response to a signal generated by mitotic spindle damage or by chromosomes that have not attached to microtubules" [PMID:19372138]
Show

Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Mad1l1tm1.1Ktj/Mad1l1+,Mad2l1tm1Sorg/Mad2l1+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6J

 MP:0010380 inner cell mass apoptosis "the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0010681 abnormal hair follicle bulb morphology "any structural anomaly of the thickened portion of the proximal portion of the hair follicle that contains rapidly proliferating matrix cells, melanocytes and outer root sheath cells" [PMID:19211055]
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Allelic Composition: Mad2l1tm2Sorg/Mad2l1tm2Sorg,Tg(KRT14-cre)1Amc/?
Genetic Background: Not Specified

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Mad2l1tm2Sorg/Mad2l1tm2Sorg,Tg(KRT14-cre)1Amc/?
Genetic Background: Not Specified

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
Show

Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0011194 abnormal hair follicle physiology "any functional anomaly of the invagination of the epidermis from which the hair shaft develops" [MESH:A10.272.497.500, MGI:mnk]
Show

Allelic Composition: Mad2l1tm2Sorg/Mad2l1tm2Sorg,Tg(KRT14-cre)1Amc/?
Genetic Background: Not Specified

 MP:0012114 absent inner cell mass proliferation 
Show

Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
Show

Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006398 Cdc20 / Q9JJ66 / Cell division cycle / Q12834* / cell division cycle 20*  / complex / reaction
 ENSMUSG00000029554 Mad1l1 / Q9WTX8 / Mus musculus MAD1 mitotic arrest deficient 1-like 1 (Mad1l1), transcript variant 2, mRNA. / Q9Y6D9* / mitotic arrest deficient 1 like 1*  / complex / reaction
 ENSMUSG00000066979 Bub3 / Q9WVA3 / Mitotic checkpoint protein BUB3 / O43684* / BUB3, mitotic checkpoint protein*  / complex / reaction
 ENSMUSG00000026622 Nek2 / O35942 / Serine/threonine-protein kinase Nek2 / P51955* / NIMA related kinase 2*  / complex / reaction
 ENSMUSG00000040084 Bub1b / Q9Z1S0 / Mitotic checkpoint serine/threonine-protein kinase BUB1 beta / O60566* / BUB1 mitotic checkpoint serine/threonine kinase B*  / complex / reaction
 ENSMUSG00000019942 Cdk1 / P11440 / Cyclin-dependent kinase 1 / P06493*  / reaction / complex






 

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