ENSG00000002822


Homo sapiens

Features
Gene ID: ENSG00000002822
  
Biological name :MAD1L1
  
Synonyms : MAD1L1 / mitotic arrest deficient 1 like 1 / Q9Y6D9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p22.3
Gene start: 1815793
Gene end: 2233243
  
Corresponding Affymetrix probe sets: 204857_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000385334
Ensembl peptide - ENSP00000384155
Ensembl peptide - ENSP00000390099
Ensembl peptide - ENSP00000414877
Ensembl peptide - ENSP00000413139
Ensembl peptide - ENSP00000401901
Ensembl peptide - ENSP00000397417
Ensembl peptide - ENSP00000395457
Ensembl peptide - ENSP00000394886
Ensembl peptide - ENSP00000394069
Ensembl peptide - ENSP00000393037
Ensembl peptide - ENSP00000265854
Ensembl peptide - ENSP00000382562
NCBI entrez gene - 8379     See in Manteia.
OMIM - 602686
RefSeq - XM_017012691
RefSeq - NM_001013836
RefSeq - NM_001013837
RefSeq - NM_001304523
RefSeq - NM_001304524
RefSeq - NM_001304525
RefSeq - NM_003550
RefSeq - XM_005249877
RefSeq - XM_011515567
RefSeq - XM_011515568
RefSeq - XM_011515571
RefSeq - XM_017012690
RefSeq Peptide - NP_003541
RefSeq Peptide - NP_001013858
RefSeq Peptide - NP_001013859
RefSeq Peptide - NP_001291452
RefSeq Peptide - NP_001291453
RefSeq Peptide - NP_001291454
swissprot - C9JX80
swissprot - C9JTA2
swissprot - C9JPS1
swissprot - C9JP81
swissprot - C9JKI7
swissprot - Q9Y6D9
swissprot - C9J9H5
swissprot - C9JJ38
swissprot - C9JIR0
swissprot - C9K086
Ensembl - ENSG00000002822
  
Related genetic diseases (OMIM): 176807 - Prostate cancer, somatic, 176807
  602686 - Lymphoma, somatic
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mad1l1ENSDARG00000033852Danio rerio
 MAD1L1ENSGALG00000004224Gallus gallus
 Mad1l1ENSMUSG00000029554Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR008672  Spindle assembly checkpoint component Mad1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007062 sister chromatid cohesion TAS
 biological_processGO:0007093 mitotic cell cycle checkpoint NAS
 biological_processGO:0007094 mitotic spindle assembly checkpoint IBA
 biological_processGO:0042130 negative regulation of T cell proliferation IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051315 attachment of mitotic spindle microtubules to kinetochore IBA
 biological_processGO:0090235 regulation of metaphase plate congression IDA
 biological_processGO:1901990 regulation of mitotic cell cycle phase transition IEA
 cellular_componentGO:0000775 chromosome, centromeric region IEA
 cellular_componentGO:0000776 kinetochore IEA
 cellular_componentGO:0000777 condensed chromosome kinetochore IEA
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005643 nuclear pore IDA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome NAS
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005819 spindle NAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0072686 mitotic spindle IDA
 cellular_componentGO:0097431 mitotic spindle pole IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043515 kinetochore binding IDA


Pathways (from Reactome)
Pathway description
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164109 MAD2L1 / Q13257 / mitotic arrest deficient 2 like 1  / reaction / complex






 

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