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Aliases for MAD2L1 Gene

Aliases for MAD2L1 Gene

  • MAD2 Mitotic Arrest Deficient-Like 1 (Yeast) 2 3 5
  • MAD2 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 1 2 3
  • Mitotic Arrest Deficient 2-Like Protein 1 3 4
  • MAD2-Like Protein 1 3 4
  • HSMAD2 3 4
  • MAD2 3 4
  • Mitotic Arrest Deficient, Yeast, Homolog-Like 1 3

External Ids for MAD2L1 Gene

Previous GeneCards Identifiers for MAD2L1 Gene

  • GC04M121738
  • GC04M121260
  • GC04M121373
  • GC04M121439
  • GC04M121338
  • GC04M120980
  • GC04M116701

Summaries for MAD2L1 Gene

Entrez Gene Summary for MAD2L1 Gene

  • MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAD2L1 Gene

MAD2L1 (MAD2 Mitotic Arrest Deficient-Like 1 (Yeast)) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include protein homodimerization activity and identical protein binding.

UniProtKB/Swiss-Prot for MAD2L1 Gene

  • Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plate.

Gene Wiki entry for MAD2L1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAD2L1 Gene

Genomics for MAD2L1 Gene

Regulatory Elements for MAD2L1 Gene

Promoters for MAD2L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAD2L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAD2L1 Gene

Chromosome:
4
Start:
120,055,608 bp from pter
End:
120,067,074 bp from pter
Size:
11,467 bases
Orientation:
Minus strand

Genomic View for MAD2L1 Gene

Genes around MAD2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAD2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAD2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAD2L1 Gene

Proteins for MAD2L1 Gene

  • Protein details for MAD2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13257-MD2L1_HUMAN
    Recommended name:
    Mitotic spindle assembly checkpoint protein MAD2A
    Protein Accession:
    Q13257
    Secondary Accessions:
    • Q53F56
    • Q548X9
    • Q6IRW7
    • Q8IZX3

    Protein attributes for MAD2L1 Gene

    Size:
    205 amino acids
    Molecular mass:
    23510 Da
    Quaternary structure:
    • Monomer and homodimer. Heterotetramer with MAD1L1. Formation of a heterotetrameric core complex containing two molecules each of MAD1L1 and of MAD2L1 promotes binding of another molecule of MAD2L1 to each MAD2L1, resulting in a heterohexamer. Interacts with CDC20, MAD2L1BP and with ADAM17/TACE. Dimeric MAD2L1 in the closed conformation interacts with CDC20. Monomeric MAD2L1 in the open conformation does not interact with CDC20. CDC20 competes with MAD1L1 for MAD2L1 binding. Interacts with TPR. Binds to UBD during mitosis. Interacts with isoform 1 and isoform 2 of NEK2.

    Three dimensional structures from OCA and Proteopedia for MAD2L1 Gene

    Alternative splice isoforms for MAD2L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAD2L1 Gene

Proteomics data for MAD2L1 Gene at MOPED

Post-translational modifications for MAD2L1 Gene

  • Phosphorylated on multiple serine residues. The level of phosphorylation varies during the cell cycle and is highest during mitosis. Phosphorylation abolishes interaction with MAD1L1 and reduces interaction with CDC20. Phosphorylated by NEK2.
  • Ubiquitination at Lys 122, Lys 166, and Lys 192
  • Modification sites at PhosphoSitePlus

Other Protein References for MAD2L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MAD2L1 (MAD2L1)

No data available for DME Specific Peptides for MAD2L1 Gene

Domains & Families for MAD2L1 Gene

Protein Domains for MAD2L1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q13257

UniProtKB/Swiss-Prot:

MD2L1_HUMAN :
  • The protein has two highly different native conformations, an inactive open conformation that cannot bind CDC20 and that predominates in cytosolic monomers, and an active closed conformation. The protein in the closed conformation preferentially dimerizes with another molecule in the open conformation, but can also form a dimer with a molecule in the closed conformation. Formation of a heterotetrameric core complex containing two molecules of MAD1L1 and of MAD2L1 in the closed conformation promotes binding of another molecule of MAD2L1 in the open conformation and the conversion of the open to the closed form, and thereby promotes interaction with CDC20.
  • Belongs to the MAD2 family.
Domain:
  • The protein has two highly different native conformations, an inactive open conformation that cannot bind CDC20 and that predominates in cytosolic monomers, and an active closed conformation. The protein in the closed conformation preferentially dimerizes with another molecule in the open conformation, but can also form a dimer with a molecule in the closed conformation. Formation of a heterotetrameric core complex containing two molecules of MAD1L1 and of MAD2L1 in the closed conformation promotes binding of another molecule of MAD2L1 in the open conformation and the conversion of the open to the closed form, and thereby promotes interaction with CDC20.
  • Contains 1 HORMA domain.
Family:
  • Belongs to the MAD2 family.
genes like me logo Genes that share domains with MAD2L1: view

No data available for Gene Families for MAD2L1 Gene

Function for MAD2L1 Gene

Molecular function for MAD2L1 Gene

GENATLAS Biochemistry:
mitotic arrest deficient protein 2-like 1,yeast homolog in the 5q-syndrome region,involved in the cell cycle control at mitotic spindle assembly checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate
UniProtKB/Swiss-Prot Function:
Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plate.
genes like me logo Genes that share phenotypes with MAD2L1: view

Animal Models for MAD2L1 Gene

MGI Knock Outs for MAD2L1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAD2L1 Gene

Localization for MAD2L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAD2L1 Gene

Nucleus. Chromosome, centromere, kinetochore. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. Note=Recruited by MAD1L1 to unattached kinetochores (Probable). Recruited to the nuclear pore complex by TPR during interphase. Recruited to kinetochores in late prometaphase after BUB1, CENPF, BUB1B and CENPE. Kinetochore association requires the presence of NEK2. Kinetochore association is repressed by UBD. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAD2L1 Gene COMPARTMENTS Subcellular localization image for MAD2L1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MAD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IDA 8824189
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MAD2L1: view

Pathways & Interactions for MAD2L1 Gene

genes like me logo Genes that share pathways with MAD2L1: view

Pathways by source for MAD2L1 Gene

Gene Ontology (GO) - Biological Process for MAD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IEA --
GO:0000278 mitotic cell cycle TAS --
GO:0007062 sister chromatid cohesion TAS --
GO:0007093 mitotic cell cycle checkpoint IGI 21274008
GO:0007264 small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with MAD2L1: view

No data available for SIGNOR curated interactions for MAD2L1 Gene

Drugs & Compounds for MAD2L1 Gene

(6) Drugs for MAD2L1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MAD2L1: view

Transcripts for MAD2L1 Gene

Unigene Clusters for MAD2L1 Gene

MAD2 mitotic arrest deficient-like 1 (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAD2L1 Gene

No ASD Table

Relevant External Links for MAD2L1 Gene

GeneLoc Exon Structure for
MAD2L1
ECgene alternative splicing isoforms for
MAD2L1

Expression for MAD2L1 Gene

mRNA expression in normal human tissues for MAD2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAD2L1 Gene

This gene is overexpressed in Bone (31.8) and Lymph node (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAD2L1 Gene



SOURCE GeneReport for Unigene cluster for MAD2L1 Gene Hs.591697

genes like me logo Genes that share expression patterns with MAD2L1: view

Protein tissue co-expression partners for MAD2L1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MAD2L1 Gene

Orthologs for MAD2L1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAD2L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAD2L1 35
  • 95.12 (n)
  • 98.54 (a)
-- 36
  • 91 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC476070 35
  • 93.98 (n)
  • 97.56 (a)
MAD2L1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mad2l1 35
  • 88.29 (n)
  • 94.15 (a)
Mad2l1 16
Mad2l1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAD2L1 35
  • 99.84 (n)
  • 100 (a)
MAD2L1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mad2l1 35
  • 88.46 (n)
  • 94.15 (a)
oppossum
(Monodelphis domestica)
Mammalia MAD2L1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves MAD2L1 35
  • 77.67 (n)
  • 89.5 (a)
MAD2L1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAD2L1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mad2l1 35
  • 73.06 (n)
  • 83.33 (a)
Str.13001 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.29023 35
zebrafish
(Danio rerio)
Actinopterygii mad2l1 35
  • 71.53 (n)
  • 78.12 (a)
mad2l1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17498 37
  • 46 (a)
mad2 35
  • 52.74 (n)
  • 45.27 (a)
mad2 36
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000751 35
  • 44.89 (n)
  • 33.67 (a)
worm
(Caenorhabditis elegans)
Secernentea mdf-2 37
  • 52 (a)
mdf-2 35
  • 57.34 (n)
  • 52.85 (a)
mdf-2 36
  • 50 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR043W 35
  • 50.44 (n)
  • 45.55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09438g 35
  • 52.23 (n)
  • 45.45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAD2 35
  • 50.71 (n)
  • 45.21 (a)
MAD2 36
  • 41 (a)
OneToOne
MAD2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MAD2 35
  • 54.21 (n)
  • 47.37 (a)
rice
(Oryza sativa)
Liliopsida Os04g0486500 35
  • 50.91 (n)
  • 46.77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9200 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05781 35
  • 51.12 (n)
  • 44.04 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mad2 35
  • 52.26 (n)
  • 47.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for MAD2L1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAD2L1 Gene

ENSEMBL:
Gene Tree for MAD2L1 (if available)
TreeFam:
Gene Tree for MAD2L1 (if available)

Paralogs for MAD2L1 Gene

Pseudogenes.org Pseudogenes for MAD2L1 Gene

genes like me logo Genes that share paralogs with MAD2L1: view

No data available for Paralogs for MAD2L1 Gene

Variants for MAD2L1 Gene

Sequence variations from dbSNP and Humsavar for MAD2L1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs903147 -- 120,066,961(-) ACCAA(A/C)TGCGC upstream-variant-2KB
rs1546120 -- 120,062,922(-) ACCTA(C/T)TGCTC intron-variant
rs1972014 -- 120,062,799(-) ATCAC(A/G)GCTAG intron-variant
rs2111143 -- 120,062,344(-) TTTAT(C/G)TTGGA intron-variant
rs2193126 -- 120,065,699(-) AATAC(A/C/T)TAAAT reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for MAD2L1 Gene

Variant ID Type Subtype PubMed ID
nsv879851 CNV Loss 21882294

Variation tolerance for MAD2L1 Gene

Residual Variation Intolerance Score: 34.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAD2L1 Gene

HapMap Linkage Disequilibrium report
MAD2L1
Human Gene Mutation Database (HGMD)
MAD2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAD2L1 Gene

Disorders for MAD2L1 Gene

Relevant External Links for MAD2L1

Genetic Association Database (GAD)
MAD2L1
Human Genome Epidemiology (HuGE) Navigator
MAD2L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAD2L1

No disorders were found for MAD2L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAD2L1 Gene

Publications for MAD2L1 Gene

  1. Identification of a human mitotic checkpoint gene: hsMAD2. (PMID: 8824189) Li Y. … Benezra R. (Science 1996) 2 3 4 23 67
  2. Mitotic arrest defective protein 2 expression abnormality and its clinicopathologic significance in human osteosarcoma. (PMID: 20132188) Yu L. … Chen J.L. (APMIS 2010) 3 23
  3. LSD1 is required for chromosome segregation during mitosis. (PMID: 20189264) Lv S. … Xu X. (Eur. J. Cell Biol. 2010) 3 23
  4. Depression of MAD2 inhibits apoptosis and increases proliferation and multidrug resistance in gastric cancer cells by regulating the activation of phosphorylated survivin. (PMID: 20440596) Wang L. … Fan D. (Tumour Biol. 2010) 3 23
  5. Spindle proteins in resected pancreatic head adenocarcinomas: BubR1 is an independent prognostic factor in pancreatobiliary-type tumours. (PMID: 20459534) Gladhaug I.P. … Clausen O.P. (Histopathology 2010) 3 23

Products for MAD2L1 Gene

Sources for MAD2L1 Gene

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