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MAD1L1 (mitotic arrest deficient 1 like 1)

Written2018-02Keli Lima, João Agostinho Machado-Neto
Department of Clinical, Toxicological and Bromatological Analysis, Faculty of Pharmaceutical Sciences of Ribeirão Preto, (KL), Department of Pharmacology, Institute of Biomedical Sciences of the University of São Paulo (JAMN), São Paulo, Brazil.

Abstract MAD1L1 is coiled-coil protein that binds to improperly attached kinetochrore, what results in recruitment and interaction with MAD2L1, activation of the mitotic checkpoint complex, inhibition of the anaphase-promoting complex/cyclosome and cell cycle arrest. During interphase, MAD1L1 regulates mitosis entrance at nuclear pore complexes (MAD2L1-dependent mechanism) and Golgi apparatus-related functions (MAD2L1-independent mechanism). Alterations in MAD1L1 are associated with chromosomal instability, aneuploidy, and cancer susceptibility. The present review contains data on MAD1L1 DNA, RNA, protein encoded and function.

Keywords MAD1L1; Mitotic arrest deficient 1 like 1; MAD1; Spindle checkpoint; Cell cycle; Chromosome segregation

(Note : for Links provided by Atlas : click)


Alias (NCBI)MAD1
MAD1 Mitotic Arrest Deficient Like 1
Mitotic Checkpoint MAD1 Protein Homolog
Tax-Binding Protein 181
MAD1-Like Protein 1
Tumor Protein P53 Inducible Protein 9
HGNC (Hugo) MAD1L1
HGNC Alias symbHsMAD1
HGNC Previous nameMAD1 (mitotic arrest deficient, yeast, homolog)-like 1
 MAD1 mitotic arrest deficient-like 1 (yeast)
 MAD1 mitotic arrest deficient like 1
LocusID (NCBI) 8379
Atlas_Id 41226
Location 7p22.3  [Link to chromosome band 7p22]
Location_base_pair Starts at 1815795 and ends at 2232945 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping MAD1L1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
t(5;7)(q34;p22) with fusion gene RARS/MAD1L1


Description The entire MAD1L1 gene is approximately 417.1 Kb (start: 1815792 and end: 2232971 bp; orientation: Minus strand). The MAD1L1 gene encodes for 6 transcript variants. The transcript variant 1 (start: 1815792 and end: 2232948 bp; orientation: Minus strand; 19 exons; mRNA: 2754 bp) is the longest transcript variant. Transcript variant 2 (mRNA: 2717 bp), transcript variant 3 (mRNA: 2714 bp) and transcript variant 4 (mRNA: 2538 bp) differs in the 5' UTR compared to transcript variant 1. The transcript variants 1-4 encode the protein isoform a (718 aa protein). The transcript variant 5 (mRNA: 2376 bp; 17 exons) lacks some exons in the 5' UTR and displays an alternate exon in the 5' coding region, what results in an alternative start codon, frameshift, and a shorter and distinct protein (isoform b; 626 aa). The transcript variant 6 is the shortest transcript variant (start: 1815792 and end: 1940550 bp; 4 exons; mRNA: 1318 bp), it displays an alternative 5'-terminal exon, uses an in-frame start codon and encodes the protein isoform c (174 aa).


  Figure 1. MAD1L1 protein structure. MAD1L1 protein contains a MAD1L1 oligomerization domain, MAD2L1-binding domain and RLK motif (Arg-Leu-Lys; essential for BUB1 and BUB3 interactions). This figure was adapted from Canman et al., 2002; Sironi et al., 2002.
Description MAD1L1 is a 718-residue coiled-coil protein that interacts with MAD2L1, and is composite of a MAD1L1 oligomerization domain, MAD2L1-binding domain and RLK motif (Arg-Leu-Lys; essential for BUB1 and BUB3 interactions) (Canman et al., 2002; Sironi et al., 2002) (Figure 1). MAD1L1-MAD2L1 complexes form a tetramer-like structure due to the parallel intermolecular coiled-coil between α 1 helices from different MAD1L1 molecules (Nasmyth, 2005; Sironi et al., 2002).
Expression Ubiquitous.
Localisation During mitosis, MAD1L1 is localized predominantly at unattached kinetochore. During interphase, MAD1L1 is localized in perinuclear region, nuclear pore complex, centrosome and Golgi apparatus (Campbell et al., 2001; Rodriguez-Bravo et al., 2014; Wan et al., 2014).
  Figure 2. MAD1L1 functions in spindle assembly checkpoint. (Upper panel) During mitosis, MAD1L1 binds to improperly attached kinetochrore, what results in recruitment and interaction with MAD2L1, and activation of the mitotic checkpoint complex (MCC). The MCC inhibits the anaphase-promoting complex/cyclosome (APC/C) and leads to cell cycle arrest. (Lower panel) In absence of unattached kinetochores, MAD1L1/MAD2L1 complex is not recruited, what results in chromosome segregation during anaphase. This figure was created using Servier Medical Art tools (
Function MAD1L1 belongs to the assembly control of the mitotic spindle, which acts as a component capable of blocking the onset of the anaphase if the chromosomes are not correctly aligned on the metaphase plate (Hardwick and Murray, 1995). The MAD1L1 protein has approximately 83 kDa and interacts with other proteins, such as MAD2L1, to perform its functions (Campbell et al., 2001; Wright et al., 2017). The complex MAD1L1/MAD2L1 binds to improperly attached kinetochrore, induces MAD1L1 phosphorylation by MPS1, and acts as an anchor for the formation of other protein interactions, including MAD2L1-CDC20 complex. The molecular events upon MAD1L1 and unattached kinetochores interaction lead to the formation of mitotic checkpoint complex (MCC), inhibition of anaphase-promoting complex/cyclosome (APC/C), and cell cycle arrest (Reviewed by Schuyler et al., 2012 and London and Biggins, 2014) (Figure 2).
Rodriguez-Bravo and colleagues (Rodriguez-Bravo et al., 2014) reported that the MAD1L1-MAD2L1 complex anchored to the nuclear pore complexes emits an inhibitory signal that limits the speed of the mitosis, facilitating corrections of possible errors, which would avoid a cell cycle arrest. Alterations in MAD1L1 are associated with chromosomal instability and aneuploidy (Avram et al., 2014; Tsukasaki et al., 2001).
Wan and colleagues (Wan et al., 2014) reported an elegant mechanistic study that described the non-related spindle assembly checkpoint and MAD2L1 independent functions for MADlL1. During interphase, MAD1L1 is localized in the Golgi apparatus, and participates in integrin secretion, adhesion, mobility, cell migration and PTK2 (FAK) signaling pathway (Wan et al., 2014).
Homology MAD1L1 has a high homology among different species (Table 1).
Table 1. Comparative identity of human MAD1L1 with other species
% Identity for: Homo sapiens MAD1L1SymbolProteinDNA

vs. P. troglodytes


vs. M. mulatta


vs. C. lupus


vs. B. taurus


vs. M. musculus


vs. R. norvegicus


vs. G. gallus


vs. X. tropicalis


vs. D. rerio


vs. D. melanogaster


vs. A. gambiae




Somatic Recurrent mutations in the MAD1L1 gene are rare, and 153 missense substitution, 69 synonymous substitution, 8 nonsense substitution, 1 frameshift insertion and 8 frameshift deletion mutations are reported in COSMIC (Catalogue of Somatic Mutations in Cancer; Similar findings were reported in cBioPortal (, which includes 41824 cancer samples: somatic mutation frequency in MAD1L1 was 0.5% (195 mutations, being 166 missense and 29 truncating mutations). Analyzing together, mutation, amplification, deep deletion and multiple alterations, the total of cancer samples with any type of alteration was 570 (1.4%).

Implicated in

Entity Colorectal cancer
Note In HCT116 colorectal carcinoma cell line, MAD1L1 silencing disturbed the spindle checkpoint and leaded to aneuploidy (Kienitz et al., 2005). On the other hand, the induction of MAD1L1 overexpression resulted in aberrant mitotic timing, aneuploidy and resistance to apoptosis in DLD1 cells, a chromosomally stable colorectal cancer cell line (Ryan et al., 2012). The presence of the genotype His/His for the MAD1L1 Arg558His (rs1801368) polymorphism was associated with increased risk for colorectal cancer, using a dominant model, in a Chinese cohort (Zhong et al., 2015).
Entity Liver cancer
Note MAD1L1 expression was observed in 70% of new early diagnosed cases and 30% of recurrence hepatocellular carcinoma patients, suggesting that the loss of MAD1L1 may be involved in disease progression (Nam et al., 2008). MAD1L1 was found to be methylated in 50% of hepatocellular carcinoma cell lines and primary samples tested. Low MAD1L1 methylation was associated with increased tumor size and recurrence in hepatocellular carcinoma patients (Cui et al., 2016). Sze and colleagues (Sze et al., 2008) identified a novel splicing variant of MAD1L1, which was found overexpressed in 24% of hepatocellular carcinoma samples. Using functional studies, the authors showed that the ectopic expression of this novel splicing variant results mitotic checkpoint impairment and aneuploidy hematoma cell lines (Sze et al., 2008).
Entity Lung cancer
Note An initial screening for MAD1L1 mutations in 49 lung cancer patients found one sample with somatic mutation (T299A) and 1 sample with a possible germline mutation (R556H). Coe and colleagues (Coe et al., 2006) reported that the gain of a region on 7p22.3, including 350 Kbp fragment centered at MAD1L1, was observed in 13 out of 14 small-cell lung cancers (H187, H378, H889, H1607, H1672, H2107, H2141, H2171, HCC33, H82, H289, H524, H526, and H841) and in none of normal (BL289, BL1607, BL1672, BL2107, BL2141, and BL2171) cell lines analyzed. Using immunohistochemistry analysis, MAD1L1 positive expression was found to be higher in lymph node metastasis and primary tumor samples from small-cell lung cancer patients compared to adjacent non-cancerous tissue samples (Li et al., 2016). In small-cell lung cancer, the presence of MAD1L1 expression was associated with advanced stage of the disease, increased tumor size, higher incidence of lymph node metastasis and recurrence, and it was an independent predictor of poor survival outcomes (Li et al., 2016). In a cohort containing 1000 lung cancer patients and 1000 healthy donors, the genotype His/His for the MAD1L1 Arg558His (rs1801368) polymorphism was associated with lung cancer risk (Guo et al., 2010).
Entity Breast cancer
Note MAD1L1 was frequently higher expressed in tumor compared to non-malignant or normal breast cancer samples (Ryan et al., 2012; Yuan et al., 2006) and increased levels of MAD1L1 were associated with poor survival outcomes (Ryan et al., 2012). Conversely, high cytoplasm expression of MAD1L1 was observed in both, normal and breast cancer samples. However, nuclear MAD1L1 expression was significantly more frequent in breast cancer (28%) than normal (2%) samples (Sun et al., 2013). In the same study, the author also reported that nuclear MAD1L1 was associated with lower age onset, increased tumor size, higher tumor stage, presence of TP53 mutations and disease subtypes, and positive nuclear MAD1L1 was an independent predictor of worse clinical outcomes in breast cancer patients (Sun et al., 2013). In MCF-7, a breast cancer cell line, siRNA-mediate MAD1L1 silencing increased migration and reduced E-cadherin expression (Chen et al., 2012).
Entity Gastric cancer
Note Using proteomic approaches in primary samples of gastric carcinomas and its corresponding non-cancerous gastric mucosa, MAD1L1 was identified as lower expressed in gastric carcinoma samples (Nishigaki et al., 2005). Later, the same research group reported that MAD1L1 was downregulated in 47% of gastric adenomas and 60% of gastric carcinomas, and advanced carcinomas presented lower levels compared to early carcinomas (Osaki et al., 2007). In MKN-1, a gastric carcinoma cell line, ectopic MAD1L1 expression reduced proliferation and cell cycle progression (Osaki et al., 2007).
Entity Head and neck/oral cancer
Note Bhattacharjya and colleagues (Bhattacharjya et al., 2013) described a negative correlation between MAD1L1 and MIR125B, a miRNA associated with the suppression of malignant phenotype, in primary samples from head and neck/oral cancer patients. Recently, the with fusion gene RARS /MAD1L1 was identified in 10% of nasopharyngeal carcinoma and head and neck cancer samples (Zhong et al., 2017). Functional studies indicated that RARS/MAD1L1 enhances cell proliferation, clonogenicity and tumorigenicity (Zhong et al., 2017).
Entity Kidney cancer
Note Using quantitative PCR, Pinto and colleagues (Pinto et al., 2007) reported that MAD1L1 is expressed at low levels in chromophobe renal cell carcinoma compared to normal kidney samples. The authors also reported that MAD1L1 mRNA levels are reduced in samples from clear cell kidney carcinoma compared to healthy donors (Pinto et al., 2008).
Entity Ovarian cancer
Note MAD1L1 mRNA levels were found to be downregulated in chemoresistant compared to chemosensitive epithelial ovarian tumors (Ju et al., 2009). Santibáñez and colleagues (Santibanez et al., 2013) reported that the genotype AA for the polymorphism MAD1L1 G1673A (rs1801368) was associated with advanced epithelial ovarian cancer risk and that the allele A was significantly associated with increased aneuploid cells in ovarian tumor samples. Functional studies indicate that the AA genotype is also associated with higher frequency of micronuclei and nondisjunction events (Santibanez et al., 2013).
Entity Glioma
Note MAD1L1 gene expression was increased in grade IV gliomas compared to normal brain tissues (Bie et al., 2011).
Entity Leukemia
Note MAD1L1 is highly expressed in leukemia cell lines (Jurkat and K562) compared to normal peripheral blood mononuclear cells. In normal leukocytes, cell proliferation induction by PHA plus IL2 increased MAD1L1 expression (Iwanaga and Jeang, 2002).
Entity Lymphoma
Note Using proteomics and transcriptomics approaches, MAD1L1 was higher expressed in follicular lymphoma - compared to mantle cell lymphoma -derived cell lines (Weinkauf et al., 2007) .
Entity Myeloproliferative neoplasm
Note Using whole-genome sequencing, Sloma and colleagues (Sloma et al., 2017) reported the presence of R270W heterozygous mutation in MAD1L1 gene in unusual case of BCR / ABL1 - and JAK2 V617F -positive chronic myeloid leukemia during chronic phase and accelerate phase. However, upon blast crisis evolution, the MAD1L1R270W mutation was found in homozygosis. The authors also reported the MAD1L1R270W mutation in an additional case of JAK2V617F -positive essential thrombocythemia (1 out of 101 myeloproliferative neoplasm cases tested) (Sloma et al., 2017).
Entity Prostate cancer
Note MAD1L1 heterozygous mutations were found in 2 out of 7 prostate cancer cell lines (LNCaP: MAD1L1R556C, and LPC4: MAD1L1R359Q) and 2 out of 33 (MAD1L1R59C and a stop codon at 318) primary samples from prostate carcinoma patients (Tsukasaki et al., 2001).
Entity Testicular germ cell tumor
Note Using a large cohort of testicular germ cell tumor and healthy donors, and genome-wide association study as approach, Chung and colleagues (Chung et al., 2013) identified that the SNP rs12699477 of MAD1L1 was associated with testicular germ cell tumor risk.

To be noted

Initially, the MAD1L1 (mitotic arrest deficient 1 like 1) gene located in chromosome 7p22.3 was known as MAD1. However, the MXD1 (MAX dimerization protein 1) gene located in chromosome 2p13.3 was also known as MAD1, what generated confusion in the literature. Therefore, it is recommended that the HUGO nomenclature should be used in current studies involving both genes to avoid misinterpretation.
Data from the crossing between MAD1L1+/- mice suggest that total deletion of the gene resulted in embryonic lethality (Iwanaga et al., 2007). MAD1L1 haploinsufficient mice had a higher incidence of cancer, including hepatocellular carcinoma, rhabdomyosarcoma, osteosarcoma, hemangiosarcoma, uterine sarcoma and lung cancer. In addition, treatment with antineoplastic drug, vincristine, significantly increased tumor development in MAD1L1+/- mice, but not in MAD1L1+/+ mice, indicating that MAD1L1 plays a relevant role in genomic stability and carcinogenesis (Iwanaga et al., 2007; Rao et al., 2009).
Recently, a genetic variation of MAD1L1 gene (rs1801368) has been identified as a potential candidate for contributing to mosaic loss of chromosome Y and cancer susceptibility in large cohorts (Wright et al., 2017).


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This paper should be referenced as such :
Keli Lima, Joao Agostinho Machado-Neto
MAD1L1 (mitotic arrest deficient 1 like 1)
Atlas Genet Cytogenet Oncol Haematol. 2018;22(10):429-434.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;7)(p22;p22) TTYH3::MAD1L1

External links


HGNC (Hugo)MAD1L1   6762
Atlas Explorer : (Salamanque)MAD1L1
Entrez_Gene (NCBI)MAD1L1    mitotic arrest deficient 1 like 1
AliasesMAD1; PIG9; TP53I9; TXBP181
GeneCards (Weizmann)MAD1L1
Ensembl hg19 (Hinxton)ENSG00000002822 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000002822 [Gene_View]  ENSG00000002822 [Sequence]  chr7:1815795-2232945 [Contig_View]  MAD1L1 [Vega]
ICGC DataPortalENSG00000002822
TCGA cBioPortalMAD1L1
AceView (NCBI)MAD1L1
Genatlas (Paris)MAD1L1
SOURCE (Princeton)MAD1L1
Genetics Home Reference (NIH)MAD1L1
Genomic and cartography
GoldenPath hg38 (UCSC)MAD1L1  -     chr7:1815795-2232945 -  7p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAD1L1  -     7p22.3   [Description]    (hg19-Feb_2009)
GoldenPathMAD1L1 - 7p22.3 [CytoView hg19]  MAD1L1 - 7p22.3 [CytoView hg38]
Genome Data Viewer NCBIMAD1L1 [Mapview hg19]  
OMIM176807   602686   
Gene and transcription
Genbank (Entrez)AF083811 AF123318 AK090959 AK310481 AK310831
RefSeq transcript (Entrez)NM_001013836 NM_001013837 NM_001304523 NM_001304524 NM_001304525 NM_003550
Consensus coding sequences : CCDS (NCBI)MAD1L1
Gene ExpressionMAD1L1 [ NCBI-GEO ]   MAD1L1 [ EBI - ARRAY_EXPRESS ]   MAD1L1 [ SEEK ]   MAD1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAD1L1 [ Firebrowse - Broad ]
GenevisibleExpression of MAD1L1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8379
GTEX Portal (Tissue expression)MAD1L1
Human Protein AtlasENSG00000002822-MAD1L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6D9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6D9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6D9
Domains : Interpro (EBI)Mad1   
Domain families : Pfam (Sanger)MAD (PF05557)   
Domain families : Pfam (NCBI)pfam05557   
Conserved Domain (NCBI)MAD1L1
PDB (RSDB)1GO4    4DZO   
PDB Europe1GO4    4DZO   
PDB (PDBSum)1GO4    4DZO   
PDB (IMB)1GO4    4DZO   
Structural Biology KnowledgeBase1GO4    4DZO   
SCOP (Structural Classification of Proteins)1GO4    4DZO   
CATH (Classification of proteins structures)1GO4    4DZO   
AlphaFold pdb e-kbQ9Y6D9   
Human Protein Atlas [tissue]ENSG00000002822-MAD1L1 [tissue]
Protein Interaction databases
IntAct (EBI)Q9Y6D9
Complex Portal (EBI)Q9Y6D9 CPX-85 Mitotic spindle assembly checkpoint MAD1-MAD2 complex
Q9Y6D9 CPX-82 Mitotic spindle assembly checkpoint Mad1 complex
Q9Y6D9 CPX-82 Mitotic spindle assembly checkpoint Mad1 complex
Ontologies - Pathways
Ontology : AmiGOkinetochore  kinetochore  kinetochore  protein binding  nuclear envelope  centrosome  spindle  cytosol  mitotic spindle assembly checkpoint signaling  mitotic spindle assembly checkpoint signaling  mitotic spindle assembly checkpoint signaling  mitotic spindle assembly checkpoint signaling  negative regulation of T cell proliferation  identical protein binding  kinetochore binding  nuclear pore nuclear basket  thymus development  cell division  attachment of mitotic spindle microtubules to kinetochore  mitotic spindle  mitotic spindle  regulation of metaphase plate congression  positive regulation of mitotic cell cycle spindle assembly checkpoint  mitotic spindle pole  MAD1 complex  mitotic spindle assembly checkpoint MAD1-MAD2 complex  
Ontology : EGO-EBIkinetochore  kinetochore  kinetochore  protein binding  nuclear envelope  centrosome  spindle  cytosol  mitotic spindle assembly checkpoint signaling  mitotic spindle assembly checkpoint signaling  mitotic spindle assembly checkpoint signaling  mitotic spindle assembly checkpoint signaling  negative regulation of T cell proliferation  identical protein binding  kinetochore binding  nuclear pore nuclear basket  thymus development  cell division  attachment of mitotic spindle microtubules to kinetochore  mitotic spindle  mitotic spindle  regulation of metaphase plate congression  positive regulation of mitotic cell cycle spindle assembly checkpoint  mitotic spindle pole  MAD1 complex  mitotic spindle assembly checkpoint MAD1-MAD2 complex  
REACTOMEQ9Y6D9 [protein]
REACTOME PathwaysR-HSA-68877 [pathway]   
NDEx NetworkMAD1L1
Atlas of Cancer Signalling NetworkMAD1L1
Wikipedia pathwaysMAD1L1
Orthology - Evolution
GeneTree (enSembl)ENSG00000002822
Phylogenetic Trees/Animal Genes : TreeFamMAD1L1
Homologs : HomoloGeneMAD1L1
Homology/Alignments : Family Browser (UCSC)MAD1L1
Gene fusions - Rearrangements
Fusion : MitelmanCYTH3::MAD1L1 [7p22.1/7p22.3]  
Fusion : MitelmanGRB10::MAD1L1 [7p12.1/7p22.3]  
Fusion : MitelmanMAD1L1::SERGEF [7p22.3/11p15.1]  
Fusion : MitelmanRARS::MAD1L1 [5q34/7p22.3]  
Fusion : MitelmanTTYH3::MAD1L1 [7p22.3/7p22.3]  
Fusion : FusionHubADAP1--MAD1L1    API5--MAD1L1    APLP2--MAD1L1    C7ORF50--MAD1L1    COL5A1--MAD1L1    CREBBP--MAD1L1    CYTH3--MAD1L1    DAZAP1--MAD1L1    DOCK1--MAD1L1    DSCR3--MAD1L1   
ECHDC2--MAD1L1    ELFN1--MAD1L1    FAM20C--MAD1L1    FBXL18--MAD1L1    FHOD3--MAD1L1    GALNT16--MAD1L1    GLI3--MAD1L1    GRB10--MAD1L1    GSR--MAD1L1    GTDC1--MAD1L1   
HDAC4--MAD1L1    HEXB--MAD1L1    HMGB1--MAD1L1    HOXA3--MAD1L1    IKZF3--MAD1L1    INPP5A--MAD1L1    IQCE--MAD1L1    KCTD7--MAD1L1    LUC7L--MAD1L1    MAD1L1--AHSA2   
MAD1L1--C11ORF24    MAD1L1--C7ORF50    MAD1L1--CALM1    MAD1L1--CAPN2    MAD1L1--CHST12    MAD1L1--CNTNAP2    MAD1L1--DCAF6    MAD1L1--EIF3B    MAD1L1--GAK    MAD1L1--GDI2   
MAD1L1--GPC1    MAD1L1--GUK1    MAD1L1--IQCE    MAD1L1--MAD1L1    MAD1L1--MAFK    MAD1L1--MROH3P    MAD1L1--PHF13    MAD1L1--PRKAR1B    MAD1L1--PTP4A1    MAD1L1--PWWP2B   
MAD1L1--RARS    MAD1L1--RGS12    MAD1L1--RPA3    MAD1L1--SERGEF    MAD1L1--SKIL    MAD1L1--TNK2    MAD1L1--TTYH3    MAD1L1--UBA52    MAD1L1--UBB    MAD1L1--UNC50   
MAD1L1--ZADH2    MAFK--MAD1L1    MEST--MAD1L1    NECAP1--MAD1L1    PHF14--MAD1L1    PPP1R12C--MAD1L1    PRKAR1B--MAD1L1    RAB40C--MAD1L1    RAPGEF5--MAD1L1    SMARCA4--MAD1L1   
SNX8--MAD1L1    SRGN--MAD1L1    SUN1--MAD1L1    TANGO2--MAD1L1    TBC1D16--MAD1L1    TIAL1--MAD1L1    TMEM184A--MAD1L1    TTC3--MAD1L1    TTYH3--MAD1L1    UBAP2L--MAD1L1   
Fusion : QuiverMAD1L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAD1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAD1L1
Exome Variant ServerMAD1L1
GNOMAD BrowserENSG00000002822
Varsome BrowserMAD1L1
ACMGMAD1L1 variants
Genomic Variants (DGV)MAD1L1 [DGVbeta]
DECIPHERMAD1L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAD1L1 
ICGC Data PortalMAD1L1 
TCGA Data PortalMAD1L1 
Broad Tumor PortalMAD1L1
OASIS PortalMAD1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAD1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMAD1L1
Mutations and Diseases : HGMDMAD1L1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)MAD1L1
DoCM (Curated mutations)MAD1L1
CIViC (Clinical Interpretations of Variants in Cancer)MAD1L1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM176807    602686   
Genetic Testing Registry MAD1L1
NextProtQ9Y6D9 [Medical]
Target ValidationMAD1L1
Huge Navigator MAD1L1 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDMAD1L1
Pharm GKB GenePA372
Clinical trialMAD1L1
DataMed IndexMAD1L1
PubMed152 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 14:10:55 CET 2022

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