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Aliases for MAD1L1 Gene

Aliases for MAD1L1 Gene

  • MAD1 Mitotic Arrest Deficient Like 1 2 3 5
  • Mitotic Arrest Deficient 1-Like Protein 1 3 4
  • Mitotic Checkpoint MAD1 Protein Homolog 3 4
  • 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
  • Mitotic Spindle Assembly Checkpoint Protein MAD1 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 (MAD1 Mitotic Arrest Deficient Like 1) is a Protein Coding gene. Diseases associated with MAD1L1 include Prostate Cancer and Gastric Cardia Carcinoma. Among its related pathways are APC-Cdc20 mediated degradation of Nek2A and C-MYB transcription factor network.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAD1L1 Gene

Genomics for MAD1L1 Gene

Regulatory Elements for MAD1L1 Gene

Enhancers for MAD1L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G002298 1.5 FANTOM5 Ensembl ENCODE 12.4 -67.0 -66976 3.8 HDGF PKNOX1 CREB3L1 SIN3A TCF12 FOS JUNB TBX21 SMARCA4 PBX2 MRM2 SNX8 NUDT1 MAD1L1 LFNG GC07P002305 IMMP1LP3
GH07G002309 1.5 FANTOM5 ENCODE 12.3 -79.0 -79036 5.7 CREB3L1 MLX YBX1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SNX8 NUDT1 MRM2 MAD1L1 GC07P002305 GC07M002345
GH07G002304 1.2 Ensembl ENCODE 12.4 -71.7 -71686 0.9 ATF1 ARNT TCF12 GATA2 JUNB NCOA1 REST ZNF592 CREB3 MBD2 MRM2 NUDT1 MAD1L1 GC07P002305 IMMP1LP3
GH07G002093 0.8 FANTOM5 ENCODE 18.2 +139.6 139631 1.1 MAFF MNT MAFK NFE2L2 MAD1L1 NUDT1 MRM2 GC07P002097 GC07M002088
GH07G002037 1.3 FANTOM5 Ensembl ENCODE 10.9 +195.3 195311 1.3 HDAC1 SMARCA5 IRF2 RNF2 L3MBTL2 BHLHE40 CEBPB DPF2 RAD51 ZBTB33 NUDT1 MAD1L1 MRM2 LFNG GC07M001999 GC07M002088
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAD1L1 on UCSC Golden Path with GeneCards custom track

Promoters for MAD1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000207739 543 1401 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YBX1 ZNF2

Genomic Location for MAD1L1 Gene

Chromosome:
7
Start:
1,815,792 bp from pter
End:
2,233,243 bp from pter
Size:
417,452 bases
Orientation:
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:
    Q9Y6D9-MD1L1_HUMAN
    Recommended name:
    Mitotic spindle assembly checkpoint protein MAD1
    Protein Accession:
    Q9Y6D9
    Secondary Accessions:
    • B3KR41
    • Q13312
    • Q75MI0
    • Q86UM4
    • Q9UNH0

    Protein attributes for MAD1L1 Gene

    Size:
    718 amino acids
    Molecular mass:
    83067 Da
    Quaternary structure:
    • Homodimer. Heterodimerizes with MAD2L1 in order to form a tetrameric MAD1L1-MAD2L1 core complex. 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 and the viral Tax protein. Interacts with NEK2. Interacts with TPR; the interactions occurs in a microtubule-independent manner.
    SequenceCaution:
    • Sequence=AAC52059.1; Type=Frameshift; Positions=663; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAD1L1 Gene

    Alternative splice isoforms for MAD1L1 Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

  • Abcam antibodies for MAD1L1

No data available for DME Specific Peptides for MAD1L1 Gene

Domains & Families for MAD1L1 Gene

Protein Domains for MAD1L1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y6D9

UniProtKB/Swiss-Prot:

MD1L1_HUMAN :
  • Belongs to the MAD1 family.
Family:
  • Belongs to the MAD1 family.
genes like me logo Genes that share domains with MAD1L1: view

No data available for Gene Families for MAD1L1 Gene

Function for MAD1L1 Gene

Molecular function for MAD1L1 Gene

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
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.

Gene Ontology (GO) - Molecular Function for MAD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12006501
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

CRISPR Products

miRNA for MAD1L1 Gene

miRTarBase miRNAs that target MAD1L1

Inhibitory RNA Products

Flow Cytometry 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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=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. Colocalizes with NEK2 at the kinetochore.

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 MAD1L1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for MAD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IEA,IDA 17363900
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IDA --
GO:0005643 colocalizes_with nuclear pore IDA 18981471
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

Gene Ontology (GO) - Biological Process for MAD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0007067 mitotic nuclear division IEA --
GO:0007093 mitotic cell cycle checkpoint NAS 9546394
GO:0007094 mitotic spindle assembly checkpoint IBA --
genes like me logo Genes that share ontologies with MAD1L1: view

No data available for SIGNOR curated interactions for MAD1L1 Gene

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 2050
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2864
genes like me logo Genes that share compounds with MAD1L1: view

Transcripts for MAD1L1 Gene

mRNA/cDNA for MAD1L1 Gene

Unigene Clusters for MAD1L1 Gene

MAD1 mitotic arrest deficient-like 1 (yeast):
Representative Sequences:

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: - - - - - - - - - - - - - -
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9: -
SP10:
SP11:
SP12: - - - - - -
SP13: - - - -
SP14: -
SP15: - - - - -
SP16:
SP17:
SP18:

ExUns: 21 ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c · 33d · 33e
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP5:
SP6: - - - - - -
SP7: - -
SP8:
SP9:
SP10: -
SP11: - -
SP12: - -
SP13: - -
SP14: - -
SP15:
SP16:
SP17: -
SP18:

Relevant External Links for MAD1L1 Gene

GeneLoc Exon Structure for
MAD1L1
ECgene alternative splicing isoforms for
MAD1L1

Expression for MAD1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MAD1L1 Gene



Protein tissue co-expression partners for MAD1L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAD1L1 Gene:

MAD1L1

SOURCE GeneReport for Unigene cluster for MAD1L1 Gene:

Hs.654838

mRNA Expression by UniProt/SwissProt for MAD1L1 Gene:

Q9Y6D9-MD1L1_HUMAN
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
Systems:
  • reproductive
Organs:
Pelvis:
  • prostate
genes like me logo Genes that share expression patterns with MAD1L1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MAD1L1 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia MAD1L1 34 35
  • 85.45 (n)
dog
(Canis familiaris)
Mammalia MAD1L1 34 35
  • 84.29 (n)
rat
(Rattus norvegicus)
Mammalia Mad1l1 34
  • 82.28 (n)
mouse
(Mus musculus)
Mammalia Mad1l1 34 16 35
  • 81.45 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MAD1L1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAD1L1 34 35
  • 73.18 (n)
lizard
(Anolis carolinensis)
Reptilia MAD1L1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mad1l1 34
  • 64.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia mad1-A 34
zebrafish
(Danio rerio)
Actinopterygii mad1l1 34 35
  • 60.6 (n)
zgc56571 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006632 34
  • 47.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mad1 34 35
  • 44.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAD1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 19 (a)
OneToOne
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

ENSEMBL:
Gene Tree for MAD1L1 (if available)
TreeFam:
Gene Tree for MAD1L1 (if available)

Paralogs for MAD1L1 Gene

Pseudogenes.org 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 from dbSNP and Humsavar for MAD1L1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1801368 A cancer cell line 1,936,821(-) CCTGC(A/C/G)CGAGG reference, missense
rs1801500 A cancer cell line 1,936,779(-) ACTGC(A/C/G)CGGGC reference, missense
rs201951163 A breast cancer cell line 1,936,789(+) TCGCT(C/G/T)GCACT reference, missense
rs28939694 A prostate cancer cell line
rs371561369 A prostate cancer cell line 1,936,828(+) CAGGC(A/G)CTGCC reference, missense

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)

Relevant External Links for MAD1L1 Gene

Human Gene Mutation Database (HGMD)
MAD1L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAD1L1

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

Disorders for MAD1L1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAD1L1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, hereditary, 5
gastric cardia carcinoma
  • carcinoma of cardia of stomach
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MD1L1_HUMAN
  • 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}.

Relevant External Links for MAD1L1

Genetic Association Database (GAD)
MAD1L1
Human Genome Epidemiology (HuGE) Navigator
MAD1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAD1L1
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 D.-Y. … Jeang K.-T. (Cell 1998) 2 3 4 22 64
  2. NEK2A interacts with MAD1 and possibly functions as a novel integrator of the spindle checkpoint signaling. (PMID: 14978040) Lou Y. … Yao X. (J. Biol. Chem. 2004) 3 4 22 64
  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. (EMBO J. 2002) 3 4 22 64
  4. Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5. (PMID: 10049595) Jin D.-Y. … Jeang K.-T. (Genomics 1999) 2 3 4 64
  5. Phosphorylation of human MAD1 by the BUB1 kinase in vitro. (PMID: 10198256) Seeley T.W. … Zhen J.Y. (Biochem. Biophys. Res. Commun. 1999) 3 4 22 64

Products for MAD1L1 Gene

Sources for MAD1L1 Gene

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