Property Summary

NCBI Gene PubMed Count 83
PubMed Score 12.73
PubTator Score 108.36

Knowledge Summary


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Gene RIF (47)

26528791 MAD1L1 rs12666575 polymorphism may play a protective role against schizophrenia (SCZ) in the Chinese population. rs12666575 may be associated with general psychopathology and thought disturbance in SCZ patients.
26183163 MAD1L1 Arg558His and MAD2L1 Leu84Met interaction with smoking increase the risk of colorectal cancer
25898113 We also show that replication perturbations result in relocalization of MAD1/MAD2 in human cells, suggesting that the role of SAC in DNA repair is conserved.
25447996 Mad1 has a role in secretion and cell migration.
24862574 Here we demonstrate that the centromere protein CENP-I is required to generate a stable association of RZZ and Mad1 with kinetochores.
24728176 An important role of ATM-mediated Mad1 Serine 214 phosphorylation in mitosis.
24724894 This article reviews Mad1 and Mad2 - structural and functional relationship with implication in genetic diseases, specifically in cancer. [review]
24695965 MAD1 kinetochore localization dictates the spindle assembly checkpoint in metaphase.
24637323 Mad1, in addition to converting Mad2 to its active conformation, scaffolds formation of a higher-order mitotic checkpoint complex at kinetochores.
24581499 Results show that Mad1-Mad2 must be targeted to nuclear pore complexes (NPCs) in order to produce the premitotic Cdc20 inhibitor, which ensures that anaphase and mitotic exit are robustly coupled to the establishment and correction of kinetochore-microtubule attachments.
24477933 Mad1 is required for mitotic arrest even when C-Mad2 is artificially recruited to kinetochores. The C-terminal globular domain of Mad1 and conserved residues in this region are required for this unexpected function of Mad1.
24374861 PRAP1 is a protein interacting partner of MAD1 and that PRAP1 is able to down-regulate MAD1 and suppress mitotic checkpoint signalling in hepatocellular carcinoma.
24344181 Tpr is required for normal SAC response by stabilizing Mad1 and Mad2 before mitosis.
24095110 High mad-1 expression is associated with myelodysplastic syndrome.
23860928 MAD1L1 might be used as a prognostic biomarker for breast cancer and expression of MAD1L1 in nuclei is also a predict biomarker of contraindication to pacilitaxel treatment in breast cancer.
23459071 These data indicate that hypoxia-induced Mad1 lowers doxorubicin-stimulated generation of reactive oxygen species through mitochondrial inhibition and subsequently contributes to tumor resistance to doxorubicin
23407047 The polymorphism MAD1 1673 G --> A affects SAC functionality, increasing the frequency of aneuploid cells. This polymorphism modifies the response to agents that alter the dynamics of microtubules in patients with ovarian cancer
23099851 Mad1 expression is inversely related to miR-125b expression in oral SCC tissues.
22778409 These results suggest that levels of Mad1 must be tightly regulated to prevent aneuploidy and transformation and that Mad1 up-regulation may promote tumors and cause resistance to current therapies.
22493223 results indicate that CTD is a part of an extensive kinetochore-binding interface of Mad1, and rationalize graded kinetochore targeting of Mad1 during checkpoint signaling
22351768 RED is required for kinetochore localization of MAD1, mitotic progression, and activation of the spindle assembly checkpoint.
21772247 Mad2 requires association with Mad1 to adopt the closed conformation. The Mad1:C-Mad2 complex is regulated by p31comet-dependent 'capping'. Mad1:C-Mad2 acts as a template to sustain the SAC. It challenges the distinction between SAC & mitotic timer.
21394085 Data suggest a model in which chromosome biorientation errors, which recruit Mad1-Mad2 to kinetochores, may be signalled not only through Mad2, but also through the activity of widely conserved kinases, to ensure fidelity of cell division.
21345218 TGFbeta1 induced MAD1 expression by recruitment C/EBPalpha/beta heterodimers, SP1, and SMAD3 binding to promoter of the MAD1.
21327106 Nup153 levels regulate the localization of Mad1 during the metaphase/anaphase transition thereby affecting its phoshorylation status and in turn spindle checkpoint activity and mitotic exit
20677014 Observational study of gene-disease association. (HuGE Navigator)
20624899 Sustained Mps1 activity is required in mitosis to recruit O-Mad2 to the Mad1-C-Mad2 core complex.
20544396 Suppression of telomerase activity mediated by PinX1 is involved in the Mad1/c-Myc pathway.
20516147 These results suggest that genetic variants in MAD1L1 and MAD2L1 confer susceptibility to lung cancer.
20516147 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19762557 Mad1 recruits RBP2 to the hTERT promoter that, in turn, demethylates H3-K4, thereby contributing to a stable repression of the hTERT gene in normal or differentiated malignant cells.
19224688 The expression of hTERT mRNA and deletion of Mad1 protein are closely related to pathogenesis of lung cancer.
19010891 the novel splicing variant MAD1beta may have functions different from those of MAD1alpha and may play opposing roles to MAD1alpha in mitotic checkpoint control in hepatocarcinogenesis.
18981471 Tpr regulates Mad1-Mad2 proteins are regulated during the cell cycle and mitotic spindle checkpoint signaling.
18922800 mechanistic roles contributed by protein phosphorylation and Plk1 to the spindle assembly checkpoint activity of Mad1
18491369 These results suggest that MAD1 promoter genotype may be involved in tumor progression. Moreover, the loss of MAD1 protein expression may be related to the tumor recurrence after surgical resection of HCC.
18491369 Observational study of gene-disease association. (HuGE Navigator)
18318601 Existence of a symmetric Mad2 dimer with Mad1-assisted conformational activation in the spindle checkpoint.
17998396 PRP4 is a spindle assembly checkpoint protein required for MAD1 localization to the kinetochores.
17674037 The MAD1 gene could be a candidate tumor suppressor gene, and the down-regulation of MAD1 expression may contribute to tumorigenesis in human stomach.
17333263 Chromophobe renal cell carcinoma presented underexpression of MAD1, and MAD2L2.
15782113 Stable partial downregulation of the spindle checkpoint gene MAD1, which is observed in human cancer, leads to a functional inactivation of the spindle checkpoint resulting in gross aneuploidy
14978040 NEK2A interacts with MAD1 during spindle checkpoint signaling
12876282 a regulatory mechanism for the mitotic checkpoint in which MAD1 is inhibited by p53.
12351790 Hec1 was required for the recruitment of Mps1 kinase and Mad1/Mad2 complexes to kinetochores
11980658 Expression of mitotic spindle checkpoint protein hsMAD1 correlates with cellular proliferation and is activated by a gain-of-function p53 mutant.

AA Sequence

PAFLSSLTLELFSRQTVA                                                        701 - 718

Text Mined References (95)

PMID Year Title
26528791 2016 Genetic association of GWAS-supported MAD1L1 gene polymorphism rs12666575 with schizophrenia susceptibility in a Chinese population.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26183163 2015 MAD1L1 Arg558His and MAD2L1 Leu84Met interaction with smoking increase the risk of colorectal cancer.
25898113 2015 DNA damage response and spindle assembly checkpoint function throughout the cell cycle to ensure genomic integrity.
25447996 2014 A Golgi-localized pool of the mitotic checkpoint component Mad1 controls integrin secretion and cell migration.
25416956 2014 A proteome-scale map of the human interactome network.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25036637 2014 A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways.
24862574 2014 CENP-I and Aurora B act as a molecular switch that ties RZZ/Mad1 recruitment to kinetochore attachment status.
24728176 2014 ATM-mediated Mad1 Serine 214 phosphorylation regulates Mad1 dimerization and the spindle assembly checkpoint.
24724894 2014 Mitotic checkpoint proteins Mad1 and Mad2 - structural and functional relationship with implication in genetic diseases.
24695965 2014 Conditional targeting of MAD1 to kinetochores is sufficient to reactivate the spindle assembly checkpoint in metaphase.
24637323 2014 Recruitment of Mad1 to metaphase kinetochores is sufficient to reactivate the mitotic checkpoint.
24581499 2014 Nuclear pores protect genome integrity by assembling a premitotic and Mad1-dependent anaphase inhibitor.
24477933 2014 A direct role of Mad1 in the spindle assembly checkpoint beyond Mad2 kinetochore recruitment.
24374861 2014 Proline-rich acidic protein 1 (PRAP1) is a novel interacting partner of MAD1 and has a suppressive role in mitotic checkpoint signalling in hepatocellular carcinoma.
24344181 2013 Spindle assembly checkpoint robustness requires Tpr-mediated regulation of Mad1/Mad2 proteostasis.
24280982 2014 Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
24166486 2013 GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
24095110 2013 Telomere length, c-myc and mad-1 expression could represent prognosis markers of myelodysplastic syndrome.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23860928 2013 Increased expression of mitotic arrest deficient-like 1 (MAD1L1) is associated with poor prognosis and insensitive to Taxol treatment in breast cancer.
23666239 2013 Meta-analysis identifies four new loci associated with testicular germ cell tumor.
23459071 2013 Mad1 mediates hypoxia-induced doxorubicin resistance in colon cancer cells by inhibiting mitochondrial function.
23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
23407047 2013 The MAD1 1673 G ? A polymorphism alters the function of the mitotic spindle assembly checkpoint and is associated with a worse response to induction chemotherapy and sensitivity to treatment in patients with advanced epithelial ovarian cancer.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23099851 2013 miR-125b promotes cell death by targeting spindle assembly checkpoint gene MAD1 and modulating mitotic progression.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22778409 2012 Up-regulation of the mitotic checkpoint component Mad1 causes chromosomal instability and resistance to microtubule poisons.
22688191 2012 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
22493223 2012 Structure of human Mad1 C-terminal domain reveals its involvement in kinetochore targeting.
22351768 2012 RED, a spindle pole-associated protein, is required for kinetochore localization of MAD1, mitotic progression, and activation of the spindle assembly checkpoint.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
21772247 2011 Probing the in vivo function of Mad1:C-Mad2 in the spindle assembly checkpoint.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21394085 2011 Constitutive Mad1 targeting to kinetochores uncouples checkpoint signalling from chromosome biorientation.
21345218 2011 TGF?1 enhances MAD1 expression and stimulates promoter-bound Pol II phosphorylation: basic functions of C/EBP, SP and SMAD3 transcription factors.
21327106 The nucleoporin Nup153 affects spindle checkpoint activity due to an association with Mad1.
21269460 2011 Initial characterization of the human central proteome.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20834067 2010 Joint influence of small-effect genetic variants on human longevity.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
20624899 2010 Sustained Mps1 activity is required in mitosis to recruit O-Mad2 to the Mad1-C-Mad2 core complex.
20544396 2010 PinX1 inhibits telomerase activity in gastric cancer cells through Mad1/c-Myc pathway.
20516147 2010 Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancer.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20133940 2010 Nucleoporin translocated promoter region (Tpr) associates with dynein complex, preventing chromosome lagging formation during mitosis.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19762557 2010 Chromatin remodeling: recruitment of histone demethylase RBP2 by Mad1 for transcriptional repression of a Myc target gene, telomerase reverse transcriptase.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19273613 2009 Spatiotemporal control of mitosis by the conserved spindle matrix protein Megator.
19224688 2009 [Expression of hTERT and Mad1 in lung cancer in Gejiu and Xuanwei of Yunnan Province].
19010891 2008 Role of a novel splice variant of mitotic arrest deficient 1 (MAD1), MAD1beta, in mitotic checkpoint control in liver cancer.
18981471 2008 Tpr directly binds to Mad1 and Mad2 and is important for the Mad1-Mad2-mediated mitotic spindle checkpoint.
18922800 2008 Requirements for protein phosphorylation and the kinase activity of polo-like kinase 1 (Plk1) for the kinetochore function of mitotic arrest deficiency protein 1 (Mad1).
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18491369 2008 Mitotic checkpoint gene MAD1 in hepatocellular carcinoma is associated with tumor recurrence after surgical resection.
18318601 2008 Insights into mad2 regulation in the spindle checkpoint revealed by the crystal structure of the symmetric mad2 dimer.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17998396 2007 PRP4 is a spindle assembly checkpoint protein required for MPS1, MAD1, and MAD2 localization to the kinetochores.
17674037 2007 MAD1 (mitotic arrest deficiency 1) is a candidate for a tumor suppressor gene in human stomach.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17363900 2007 The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions.
17333263 2007 Expression changes of the MAD mitotic checkpoint gene family in renal cell carcinomas characterized by numerical chromosome changes.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16341674 2005 Transcriptome analysis of human gastric cancer.
16288203 2006 The N-terminus of rodent and human MAD1 confers species-specific stringency to spindle assembly checkpoint.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15782113 2005 Partial downregulation of MAD1 causes spindle checkpoint inactivation and aneuploidy, but does not confer resistance towards taxol.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14978040 2004 NEK2A interacts with MAD1 and possibly functions as a novel integrator of the spindle checkpoint signaling.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12876282 2003 Transcriptional regulation of mitotic checkpoint gene MAD1 by p53.
12853948 2003 The DNA sequence of human chromosome 7.
12837246 2003 Multiple tumor suppressor pathways negatively regulate telomerase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12351790 2002 Role of Hec1 in spindle checkpoint signaling and kinetochore recruitment of Mad1/Mad2.
12006501 2002 Crystal structure of the tetrameric Mad1-Mad2 core complex: implications of a 'safety belt' binding mechanism for the spindle checkpoint.
11980658 2002 Expression of mitotic spindle checkpoint protein hsMAD1 correlates with cellular proliferation and is activated by a gain-of-function p53 mutant.
11804586 2002 The Mad2 spindle checkpoint protein undergoes similar major conformational changes upon binding to either Mad1 or Cdc20.
11423979 2001 Mutations in the mitotic check point gene, MAD1L1, in human cancers.
11181178 2001 Mitotic checkpoint proteins HsMAD1 and HsMAD2 are associated with nuclear pore complexes in interphase.
10597320 1999 Search for in vivo somatic mutations in the mitotic checkpoint gene, hMAD1, in human lung cancers.
10366450 1999 Characterization of MAD2B and other mitotic spindle checkpoint genes.
10198256 1999 Phosphorylation of human MAD1 by the BUB1 kinase in vitro.
10049595 1999 Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5.
9546394 1998 Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1.