MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan... See more...

Aliases for MAD1L1 Gene

Aliases for MAD1L1 Gene

  • Mitotic Arrest Deficient 1 Like 1 2 3 5
  • Mitotic Spindle Assembly Checkpoint Protein MAD1 3 4
  • Mitotic Arrest Deficient 1-Like Protein 1 3 4
  • Mitotic Checkpoint MAD1 Protein Homolog 3 4
  • MAD1 Mitotic Arrest Deficient Like 1 2 3
  • Tax-Binding Protein 181 3 4
  • MAD1-Like Protein 1 3 4
  • TXBP181 3 4
  • MAD1 3 4
  • MAD1 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 1 2
  • Mitotic-Arrest Deficient 1, Yeast, Homolog-Like 1 3
  • MAD1 Mitotic Arrest Deficient-Like 1 (Yeast) 2
  • Tumor Protein P53 Inducible Protein 9 3
  • TP53I9 3
  • HsMAD1 4
  • HMAD1 4
  • PIG9 3

External Ids for MAD1L1 Gene

Previous GeneCards Identifiers for MAD1L1 Gene

  • GC07M001499
  • GC07M001599
  • GC07M001628
  • GC07M001821
  • GC07M001855

Summaries for MAD1L1 Gene

Entrez Gene Summary for MAD1L1 Gene

  • MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GeneCards Summary for MAD1L1 Gene

MAD1L1 (Mitotic Arrest Deficient 1 Like 1) is a Protein Coding gene. Diseases associated with MAD1L1 include Prostate Cancer and Retroperitoneum Carcinoma. Among its related pathways are Oocyte meiosis and Mitotic Metaphase and Anaphase.

UniProtKB/Swiss-Prot Summary for MAD1L1 Gene

  • Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding.

Gene Wiki entry for MAD1L1 Gene

Additional gene information for MAD1L1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAD1L1 Gene

Genomics for MAD1L1 Gene

GeneHancer (GH) Regulatory Elements for MAD1L1 Gene

Promoters and enhancers for MAD1L1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J002231 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.1 -57 4.2 HNRNPK ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G PHF8 ZNF639 MAD1L1 NUDT1 MRM2 ENSG00000286192
GH07J002093 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +135.7 135702 8.9 CTCF ZIC2 ZNF623 REST RAD21 BCL11A MBD2 TCF12 GABPA SMC3 MRM2 MAD1L1 NUDT1 IQCE piR-38756-018 piR-36366-017 lnc-MRM2-2 ENSG00000286192
GH07J002309 Promoter/Enhancer 1.9 EPDnew FANTOM5 ENCODE CraniofacialAtlas 12.3 -79.0 -79036 5.7 ZBTB40 ZNF217 NRF1 POLR2G USF1 SP1 BCLAF1 PHF8 JUND TEAD4 SNX8 MRM2 NUDT1 MAD1L1 piR-35674-462 RF00017-5969
GH07J002298 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 12.5 -67.0 -66976 3.8 SIN3A SP1 TEAD4 EP300 RFX1 RELA MEF2C RCOR1 TRIM22 POLR2A RF00017-5968 piR-36393-468 piR-50308-569 MRM2 SNX8 NUDT1 MAD1L1 LFNG
GH07J002304 Promoter/Enhancer 1.2 Ensembl ENCODE 12.4 -71.7 -71692 0.9 PHB2 AFF1 MYC ZNF341 NCOR1 MBD2 ZNF316 NFIC ARNT NKRF piR-46662-586 piR-54764-563 piR-61028-515 piR-55650-582 piR-55654-460 MRM2 NUDT1 MAD1L1 piR-35674-462 SNX8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAD1L1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAD1L1

Top Transcription factor binding sites by QIAGEN in the MAD1L1 gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for MAD1L1 Gene

Genomic Locations for MAD1L1 Gene
417,452 bases
Minus strand
417,451 bases
Minus strand

Genomic View for MAD1L1 Gene

Genes around MAD1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAD1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAD1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAD1L1 Gene

Proteins for MAD1L1 Gene

  • Protein details for MAD1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mitotic spindle assembly checkpoint protein MAD1
    Protein Accession:
    Secondary Accessions:
    • B3KR41
    • Q13312
    • Q75MI0
    • Q86UM4
    • Q9UNH0

    Protein attributes for MAD1L1 Gene

    718 amino acids
    Molecular mass:
    83067 Da
    Quaternary structure:
    • Homodimer. Heterodimerizes with MAD2L1 in order to form a tetrameric MAD1L1-MAD2L1 core complex (PubMed:9546394, PubMed:18981471, PubMed:22351768, PubMed:12006501). Perturbation of the original MAD1L1-MAD2L1 structure by the spindle checkpoint may decrease MAD2L1 affinity for MAD1L1. CDC20 can compete with MAD1L1 for MAD2L1 binding, until the attachment and/or tension dampen the checkpoint signal, preventing further release of MAD2L1 on to CDC20. Also able to interact with the BUB1/BUB3 complex (PubMed:10198256). Interacts with NEK2 (PubMed:14978040). Interacts with TPR; the interactions occurs in a microtubule-independent manner (PubMed:18981471, PubMed:19273613, PubMed:20133940). Interacts with IK (PubMed:22351768). Interacts with the viral Tax protein (PubMed:9546394).
    • Sequence=AAC52059.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAD1L1 Gene

    Alternative splice isoforms for MAD1L1 Gene


neXtProt entry for MAD1L1 Gene

Post-translational modifications for MAD1L1 Gene

  • Phosphorylated; by BUB1. Become hyperphosphorylated in late S through M phases or after mitotic spindle damage.
  • Ubiquitination at Lys625
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MAD1L1 Gene

Domains & Families for MAD1L1 Gene

Gene Families for MAD1L1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MAD1L1 Gene

  • Mitotic checkpoint

Suggested Antigen Peptide Sequences for MAD1L1 Gene

GenScript: Design optimal peptide antigens:
  • MAD1 mitotic arrest deficient-like 1 (Yeast) (A4D218_HUMAN)
  • cDNA FLJ33640 fis, clone BRAMY2023482, highly similar to Mitotic spindle assembly checkpoint protein MAD1 (B3KR41_HUMAN)
  • Tax-binding protein 181 (MD1L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MAD1 family.
  • Belongs to the MAD1 family.
genes like me logo Genes that share domains with MAD1L1: view

Function for MAD1L1 Gene

Molecular function for MAD1L1 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. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding.
UniProtKB/Swiss-Prot Induction:
Increased by p53/TP53.
GENATLAS Biochemistry:
mitotic arrest deficient protein 1-like 1,yeast homolog induced by TP53,essential component of the mitotic spindle assembly checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate,interacting as a homodimer with MAD2L1,involved in cell cycle control

Phenotypes From GWAS Catalog for MAD1L1 Gene

Gene Ontology (GO) - Molecular Function for MAD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12006501
GO:0042802 identical protein binding IPI 16189514
GO:0043515 kinetochore binding IDA 18981471
genes like me logo Genes that share ontologies with MAD1L1: view
genes like me logo Genes that share phenotypes with MAD1L1: view

Human Phenotype Ontology for MAD1L1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAD1L1 Gene

MGI Knock Outs for MAD1L1:

Animal Model Products

miRNA for MAD1L1 Gene

miRTarBase miRNAs that target MAD1L1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAD1L1 Gene

Localization for MAD1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAD1L1 Gene

Nucleus. Chromosome, centromere, kinetochore. Nucleus envelope. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Detected at the nucleus envelope during interphase (PubMed:22351768). From the beginning to the end of mitosis, it is seen to move from a diffusely nuclear distribution to the centrosome, to the spindle midzone and finally to the midbody. Detected at kinetochores during prometaphase (PubMed:22351768). Colocalizes with NEK2 at the kinetochore (PubMed:14978040). Colocalizes with IK at spindle poles during metaphase and anaphase (PubMed:22351768). {ECO:0000269 PubMed:14978040, ECO:0000269 PubMed:22351768}.

Subcellular locations from

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 MAD1L1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IBA,IDA 17363900
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MAD1L1: view

Pathways & Interactions for MAD1L1 Gene

genes like me logo Genes that share pathways with MAD1L1: view

Pathways by source for MAD1L1 Gene

SIGNOR curated interactions for MAD1L1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MAD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007093 mitotic cell cycle checkpoint NAS 9546394
GO:0007094 mitotic spindle assembly checkpoint IDA 18981471
GO:0042130 negative regulation of T cell proliferation IEA --
GO:0048538 thymus development IEA --
genes like me logo Genes that share ontologies with MAD1L1: view

Drugs & Compounds for MAD1L1 Gene

(4) Drugs for MAD1L1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2480
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3559
genes like me logo Genes that share compounds with MAD1L1: view

Transcripts for MAD1L1 Gene

mRNA/cDNA for MAD1L1 Gene

14 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAD1L1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20 ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - - - - -
SP7: - -
SP9: -
SP12: - - - - - -
SP13: - - - -
SP14: -
SP15: - - - - -

ExUns: 21 ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c · 33d · 33e
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP6: - - - - - -
SP7: - -
SP10: -
SP11: - -
SP12: - -
SP13: - -
SP14: - -
SP17: -

Relevant External Links for MAD1L1 Gene

GeneLoc Exon Structure for

Expression for MAD1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAD1L1 Gene

Protein differential expression in normal tissues from HIPED for MAD1L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.7) and Lymph node (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAD1L1 Gene

Protein tissue co-expression partners for MAD1L1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAD1L1

SOURCE GeneReport for Unigene cluster for MAD1L1 Gene:


mRNA Expression by UniProt/SwissProt for MAD1L1 Gene:

Tissue specificity: Expressed weakly at G0/G1 and highly at late S and G2/M phase.

Evidence on tissue expression from TISSUES for MAD1L1 Gene

  • Nervous system(4.8)
  • Pancreas(4.2)
  • Skin(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAD1L1 Gene

Germ Layers:
  • mesoderm
  • reproductive
  • prostate
genes like me logo Genes that share expression patterns with MAD1L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MAD1L1 Gene

Orthologs for MAD1L1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAD1L1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MAD1L1 31 30
  • 99.44 (n)
(Bos Taurus)
Mammalia MAD1L1 31 30
  • 85.45 (n)
(Canis familiaris)
Mammalia MAD1L1 31 30
  • 84.29 (n)
(Rattus norvegicus)
Mammalia Mad1l1 30
  • 82.28 (n)
(Mus musculus)
Mammalia Mad1l1 17 31 30
  • 81.45 (n)
(Monodelphis domestica)
Mammalia -- 31
  • 70 (a)
-- 31
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia MAD1L1 31
  • 68 (a)
(Gallus gallus)
Aves MAD1L1 31 30
  • 73.18 (n)
(Anolis carolinensis)
Reptilia MAD1L1 31
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mad1l1 30
  • 64.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia mad1-A 30
(Danio rerio)
Actinopterygii mad1l1 31 30
  • 60.6 (n)
zgc56571 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006632 30
  • 47.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mad1 31 30
  • 44.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAD1 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 19 (a)
Species where no ortholog for MAD1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAD1L1 Gene

Gene Tree for MAD1L1 (if available)
Gene Tree for MAD1L1 (if available)
Evolutionary constrained regions (ECRs) for MAD1L1: view image

Paralogs for MAD1L1 Gene Pseudogenes for MAD1L1 Gene

genes like me logo Genes that share paralogs with MAD1L1: view

No data available for Paralogs for MAD1L1 Gene

Variants for MAD1L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAD1L1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
722376 Benign: not provided 2,216,009(-) C/T INTRON_VARIANT
758233 Benign: not provided 2,014,598(-) C/T SYNONYMOUS_VARIANT
771869 Likely Benign: not provided 1,980,497(-) G/A SYNONYMOUS_VARIANT
785208 Benign: not provided 1,898,239(-) C/T SYNONYMOUS_VARIANT
787047 Benign: not provided 2,213,240(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MAD1L1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAD1L1 Gene

Variant ID Type Subtype PubMed ID
dgv1067e201 CNV deletion 23290073
dgv1068e201 CNV deletion 23290073
dgv1069e201 CNV deletion 23290073
dgv1070e201 CNV deletion 23290073
dgv11138n54 CNV loss 21841781
dgv11139n54 CNV loss 21841781
dgv11140n54 CNV loss 21841781
dgv11141n54 CNV loss 21841781
dgv11142n54 CNV loss 21841781
dgv11143n54 CNV loss 21841781
dgv1179e199 CNV deletion 23128226
dgv3474n106 CNV deletion 24896259
dgv3737e59 CNV duplication 20981092
dgv796n27 CNV loss 19166990
esv1002584 CNV deletion 20482838
esv1002751 CNV insertion 20482838
esv1004176 CNV insertion 20482838
esv1005388 CNV deletion 20482838
esv1008479 CNV deletion 20482838
esv1021970 CNV deletion 17803354
esv1051273 CNV deletion 17803354
esv1064342 CNV deletion 17803354
esv1086937 CNV deletion 17803354
esv1260882 CNV insertion 17803354
esv1280895 CNV insertion 17803354
esv1309588 CNV insertion 17803354
esv1587480 CNV deletion 17803354
esv1621443 CNV deletion 17803354
esv1651495 CNV deletion 17803354
esv1656328 CNV deletion 17803354
esv1660511 CNV insertion 17803354
esv1699347 CNV deletion 17803354
esv1734258 CNV deletion 17803354
esv1790768 CNV insertion 17803354
esv2083782 CNV deletion 18987734
esv2164289 CNV deletion 18987734
esv2218091 CNV deletion 18987734
esv22857 CNV loss 19812545
esv2304578 CNV deletion 18987734
esv2312132 CNV deletion 18987734
esv2332356 CNV deletion 18987734
esv2353291 CNV deletion 18987734
esv2458937 CNV deletion 19546169
esv24890 CNV loss 19812545
esv2568241 CNV insertion 19546169
esv2654648 CNV deletion 19546169
esv2657037 CNV deletion 23128226
esv2662272 CNV deletion 23128226
esv26649 CNV gain+loss 19812545
esv2665376 CNV deletion 23128226
esv2666795 CNV deletion 23128226
esv2674509 CNV deletion 23128226
esv2674584 CNV deletion 23128226
esv2678786 CNV deletion 23128226
esv2733782 CNV deletion 23290073
esv2733784 CNV deletion 23290073
esv2733785 CNV deletion 23290073
esv2733786 CNV deletion 23290073
esv2733787 CNV deletion 23290073
esv2733788 CNV deletion 23290073
esv2733789 CNV deletion 23290073
esv2733790 CNV deletion 23290073
esv2733791 CNV deletion 23290073
esv2733792 CNV deletion 23290073
esv2733793 CNV deletion 23290073
esv2733795 CNV deletion 23290073
esv2733796 CNV deletion 23290073
esv2733797 CNV deletion 23290073
esv2733799 CNV deletion 23290073
esv2733800 CNV deletion 23290073
esv2733801 CNV deletion 23290073
esv2733802 CNV deletion 23290073
esv2733803 CNV deletion 23290073
esv2733804 CNV deletion 23290073
esv2733807 CNV deletion 23290073
esv2733808 CNV deletion 23290073
esv2733809 CNV deletion 23290073
esv2733810 CNV deletion 23290073
esv2733811 CNV deletion 23290073
esv2733812 CNV deletion 23290073
esv2733813 CNV deletion 23290073
esv2733816 CNV deletion 23290073
esv2733819 CNV deletion 23290073
esv2733821 CNV deletion 23290073
esv2733822 CNV deletion 23290073
esv2733823 CNV deletion 23290073
esv2733824 CNV deletion 23290073
esv2733825 CNV deletion 23290073
esv2733826 CNV deletion 23290073
esv2733827 CNV deletion 23290073
esv2733829 CNV deletion 23290073
esv2733830 CNV deletion 23290073
esv2733831 CNV deletion 23290073
esv2733832 CNV deletion 23290073
esv2733833 CNV deletion 23290073
esv2733834 CNV deletion 23290073
esv2733835 CNV deletion 23290073
esv2733836 CNV deletion 23290073
esv2733837 CNV deletion 23290073
esv2733838 CNV deletion 23290073
esv2733840 CNV deletion 23290073
esv2733841 CNV deletion 23290073
esv2733842 CNV deletion 23290073
esv2761136 CNV gain 21179565
esv28954 CNV gain 19812545
esv29771 CNV loss 19812545
esv3095416 CNV deletion 24192839
esv3310455 CNV novel sequence insertion 20981092
esv3310483 CNV novel sequence insertion 20981092
esv3328466 CNV duplication 20981092
esv3393368 CNV duplication 20981092
esv3424533 CNV duplication 20981092
esv3444551 CNV duplication 20981092
esv3446161 CNV insertion 20981092
esv3448106 CNV duplication 20981092
esv3528 CNV loss 18987735
esv3541030 CNV deletion 23714750
esv3541031 CNV deletion 23714750
esv3541032 CNV deletion 23714750
esv3541041 CNV deletion 23714750
esv3541042 CNV deletion 23714750
esv3541043 CNV deletion 23714750
esv3571560 CNV loss 25503493
esv3611827 CNV loss 21293372
esv3611831 CNV gain 21293372
esv3611832 CNV loss 21293372
esv3611833 CNV loss 21293372
esv3611835 CNV loss 21293372
esv3905 CNV loss 18987735
esv4844 CNV loss 18987735
esv995598 CNV deletion 20482838
esv999994 CNV gain 20482838
nsv1017814 CNV gain 25217958
nsv1021173 CNV loss 25217958
nsv1021310 CNV loss 25217958
nsv1030397 CNV gain 25217958
nsv1074060 CNV deletion 25765185
nsv1074474 CNV deletion 25765185
nsv1074999 CNV deletion 25765185
nsv1077483 CNV duplication 25765185
nsv1109838 CNV deletion 24896259
nsv1117689 CNV deletion 24896259
nsv1119101 CNV deletion 24896259
nsv1121669 CNV deletion 24896259
nsv1124159 CNV deletion 24896259
nsv1125257 CNV insertion 24896259
nsv1126771 CNV deletion 24896259
nsv1130861 CNV deletion 24896259
nsv1133396 CNV tandem duplication 24896259
nsv1133645 CNV deletion 24896259
nsv1135977 CNV deletion 24896259
nsv1137185 CNV deletion 24896259
nsv1139881 CNV duplication 24896259
nsv1140733 CNV deletion 24896259
nsv1140734 CNV deletion 24896259
nsv1142659 CNV deletion 24896259
nsv1142660 CNV deletion 24896259
nsv1142661 CNV deletion 24896259
nsv1146803 CNV deletion 26484159
nsv1149392 CNV deletion 26484159
nsv1150199 CNV deletion 26484159
nsv1150279 CNV deletion 26484159
nsv1150882 CNV insertion 26484159
nsv1153340 CNV deletion 26484159
nsv1161478 CNV duplication 26073780
nsv365724 CNV deletion 16902084
nsv365745 CNV insertion 16902084
nsv365970 CNV deletion 16902084
nsv366131 CNV deletion 16902084
nsv366600 CNV insertion 16902084
nsv366761 CNV deletion 16902084
nsv464252 CNV loss 19166990
nsv464253 CNV loss 19166990
nsv464254 CNV loss 19166990
nsv471193 CNV loss 18288195
nsv471204 CNV loss 18288195
nsv509186 CNV insertion 20534489
nsv511366 CNV loss 21212237
nsv511941 CNV loss 21212237
nsv511942 CNV loss 21212237
nsv5616 CNV deletion 18451855
nsv5617 CNV deletion 18451855
nsv605833 CNV loss 21841781
nsv605834 CNV loss 21841781
nsv605835 CNV loss 21841781
nsv605836 CNV loss 21841781
nsv605837 CNV loss 21841781
nsv605839 CNV gain+loss 21841781
nsv605843 CNV loss 21841781
nsv605844 CNV gain 21841781
nsv605858 CNV loss 21841781
nsv605859 CNV loss 21841781
nsv605860 CNV loss 21841781
nsv830881 CNV loss 17160897
nsv830883 CNV loss 17160897
nsv830884 CNV loss 17160897
nsv830885 CNV loss 17160897
nsv830886 CNV loss 17160897
nsv950788 CNV deletion 24416366
nsv950789 CNV deletion 24416366
nsv950790 CNV deletion 24416366

Variation tolerance for MAD1L1 Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.66; 86.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAD1L1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAD1L1 Gene

Disorders for MAD1L1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MAD1L1 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, somatic
retroperitoneum carcinoma
  • carcinoma of retroperitoneum
breast cancer
  • breast cancer, familial
lung cancer
  • adenocarcinoma of lung
  • sczd
- elite association - COSMIC cancer census association via MalaCards


  • Note=Defects in MAD1L1 are involved in the development and/or progression of various types of cancer. {ECO:0000269 PubMed:10597320, ECO:0000269 PubMed:11423979}.

Additional Disease Information for MAD1L1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAD1L1: view

No data available for Genatlas for MAD1L1 Gene

Publications for MAD1L1 Gene

  1. Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1. (PMID: 9546394) Jin DY … Jeang KT (Cell 1998) 2 3 4 23 54
  2. NEK2A interacts with MAD1 and possibly functions as a novel integrator of the spindle checkpoint signaling. (PMID: 14978040) Lou Y … Yao X (The Journal of biological chemistry 2004) 3 4 23 54
  3. Crystal structure of the tetrameric Mad1-Mad2 core complex: implications of a 'safety belt' binding mechanism for the spindle checkpoint. (PMID: 12006501) Sironi L … Musacchio A (The EMBO journal 2002) 3 4 23 54
  4. Phosphorylation of human MAD1 by the BUB1 kinase in vitro. (PMID: 10198256) Seeley TW … Zhen JY (Biochemical and biophysical research communications 1999) 3 4 23 54
  5. Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5. (PMID: 10049595) Jin DY … Jeang KT (Genomics 1999) 2 3 4 54

Products for MAD1L1 Gene