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Aliases for MAD2L1 Gene

Aliases for MAD2L1 Gene

  • Mitotic Arrest Deficient 2 Like 1 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
  • MAD2 3 4
  • Mitotic Spindle Assembly Checkpoint Protein MAD2A 3
  • Mitotic Arrest Deficient, Yeast, Homolog-Like 1 3
  • MAD2 Mitotic Arrest Deficient-Like 1 3
  • HSMAD2 3
  • HsMAD2 4

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 (Mitotic Arrest Deficient 2 Like 1) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (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

Additional gene information for MAD2L1 Gene

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

Genomics for MAD2L1 Gene

GeneHancer (GH) Regulatory Elements for MAD2L1 Gene

Promoters and enhancers for MAD2L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J120064 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 655 +0.7 709 4.5 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B SP3 MXD4 REST MAD2L1 ENSG00000250938 USP53 ENSG00000253825
GH04J120071 Enhancer 0.7 Ensembl ENCODE 0.7 -4.3 -4327 0.4 CTCF ZNF654 TRIM22 ZNF143 SMC3 REST RAD21 ENSG00000250938 MAD2L1 LTV1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAD2L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAD2L1 gene promoter:
  • POU3F2
  • LUN-1
  • AREB6
  • AML1a
  • Egr-1
  • Olf-1
  • MRF-2
  • TBP
  • Egr-2
  • Evi-1

Genomic Locations for MAD2L1 Gene

Genomic Locations for MAD2L1 Gene
chr4:120,055,608-120,067,074
(GRCh38/hg38)
Size:
11,467 bases
Orientation:
Minus strand
chr4:120,976,763-120,988,229
(GRCh37/hg19)
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 (via ubiquitin-like 1 domain) during mitosis. Interacts with isoform 1 and isoform 2 of NEK2. Interacts with HSF1; this interaction occurs in mitosis (PubMed:18794143).

    Three dimensional structures from OCA and Proteopedia for MAD2L1 Gene

    Alternative splice isoforms for MAD2L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAD2L1 Gene

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 posLast=192192, posLast=166166, and isoforms=122
  • Modification sites at PhosphoSitePlus

Other Protein References for MAD2L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAD2L1 Gene

Domains & Families for MAD2L1 Gene

Gene Families for MAD2L1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

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.
Family:
  • Belongs to the MAD2 family.
genes like me logo Genes that share domains with MAD2L1: view

Function for MAD2L1 Gene

Molecular function for MAD2L1 Gene

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.
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

Phenotypes From GWAS Catalog for MAD2L1 Gene

Gene Ontology (GO) - Molecular Function for MAD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10200259
GO:0042802 identical protein binding IPI 16525508
GO:0042803 protein homodimerization activity IPI 18022367
genes like me logo Genes that share ontologies with MAD2L1: view
genes like me logo Genes that share phenotypes with MAD2L1: view

Animal Models for MAD2L1 Gene

MGI Knock Outs for MAD2L1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAD2L1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 colocalizes_with kinetochore IDA,IEA 8824189
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IEA,IDA 18981471
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

Gene Ontology (GO) - Biological Process for MAD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IEA --
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0007093 mitotic cell cycle checkpoint IGI 21274008
GO:0007094 mitotic spindle assembly checkpoint IEA --
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

mRNA/cDNA for MAD2L1 Gene

Unigene Clusters for MAD2L1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MAD2L1 Gene



Protein tissue co-expression partners for MAD2L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAD2L1 Gene:

MAD2L1

SOURCE GeneReport for Unigene cluster for MAD2L1 Gene:

Hs.591697

Evidence on tissue expression from TISSUES for MAD2L1 Gene

  • Nervous system(4.5)
  • Bone marrow(4.2)
  • Lung(4.2)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with MAD2L1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MAD2L1 34 33
  • 99.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 99 (a)
OneToMany
MAD2L1 33
  • 95.12 (n)
-- 34
  • 91 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC476070 33
  • 93.98 (n)
MAD2L1 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAD2L1 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mad2l1 33
  • 88.46 (n)
mouse
(Mus musculus)
Mammalia Mad2l1 16 34 33
  • 88.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves MAD2L1 34 33
  • 77.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAD2L1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mad2l1 33
  • 73.06 (n)
Str.13001 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29023 33
zebrafish
(Danio rerio)
Actinopterygii mad2l1 34 33
  • 71.53 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mad2 34 33
  • 52.74 (n)
OneToOne
CG17498 35
  • 46 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000751 33
  • 44.89 (n)
worm
(Caenorhabditis elegans)
Secernentea mdf-2 34 35 33
  • 57.34 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09438g 33
  • 52.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAD2 36 34 33
  • 50.71 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR043W 33
  • 50.44 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MAD2 33
  • 54.21 (n)
rice
(Oryza sativa)
Liliopsida Os04g0486500 33
  • 50.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToOne
Cin.9200 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mad2 33
  • 52.26 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05781 33
  • 51.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9200 33
Species where no ortholog for MAD2L1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAD2L1: view image

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 Variation AA Info Type
rs1000452513 -- 120,065,360(-) A/G intron_variant
rs1000725629 -- 120,060,677(-) G/A intron_variant
rs1000733427 -- 120,066,869(-) G/A upstream_transcript_variant
rs1000765150 -- 120,066,980(-) C/T upstream_transcript_variant
rs1000803668 -- 120,065,917(-) A/G intron_variant

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)

Additional Variant Information for MAD2L1 Gene

Human Gene Mutation Database (HGMD)
MAD2L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAD2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MAD2L1 Gene

Disorders for MAD2L1 Gene

Additional Disease Information for MAD2L1

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

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 (New York, N.Y.) 1996) 2 3 4 22 58
  2. Insights into mad2 regulation in the spindle checkpoint revealed by the crystal structure of the symmetric mad2 dimer. (PMID: 18318601) Yang M … Luo X (PLoS biology 2008) 3 4 22 58
  3. Perturbation of the chromosomal binding of RCC1, Mad2 and survivin causes spindle assembly defects and mitotic catastrophe. (PMID: 18712773) Ho CY … Li HY (Journal of cellular biochemistry 2008) 3 4 22 58
  4. The Mad2 conformational dimer: structure and implications for the spindle assembly checkpoint. (PMID: 18022367) Mapelli M … Musacchio A (Cell 2007) 3 4 22 58
  5. p31comet blocks Mad2 activation through structural mimicry. (PMID: 18022368) Yang M … Luo X (Cell 2007) 3 4 22 58

Products for MAD2L1 Gene

Sources for MAD2L1 Gene

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