Details for: MAD1L1

Gene ID: 8379

Symbol: MAD1L1

Ensembl ID: ENSG00000002822

Description: mitotic arrest deficient 1 like 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 134.7518
    Cell Significance Index: -20.9600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 90.5208
    Cell Significance Index: -22.9600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 58.4359
    Cell Significance Index: -23.7400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 52.1788
    Cell Significance Index: -26.8400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 25.0015
    Cell Significance Index: -23.8700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.8142
    Cell Significance Index: -24.4300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.3692
    Cell Significance Index: -22.4200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.4948
    Cell Significance Index: -23.0200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.4394
    Cell Significance Index: -25.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.5652
    Cell Significance Index: -12.1800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.0396
    Cell Significance Index: 59.9000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.4772
    Cell Significance Index: 293.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1470
    Cell Significance Index: 230.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9629
    Cell Significance Index: 95.2500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9216
    Cell Significance Index: 149.8900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.8919
    Cell Significance Index: 19.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8448
    Cell Significance Index: 23.6100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7507
    Cell Significance Index: 677.8000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7421
    Cell Significance Index: 41.6400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6856
    Cell Significance Index: 245.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6422
    Cell Significance Index: 41.4300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5965
    Cell Significance Index: 45.7800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5956
    Cell Significance Index: 411.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5624
    Cell Significance Index: 34.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5354
    Cell Significance Index: 58.2400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4872
    Cell Significance Index: 8.3500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4832
    Cell Significance Index: 29.0100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4372
    Cell Significance Index: 11.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3911
    Cell Significance Index: 17.3000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.3225
    Cell Significance Index: 2.6300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3082
    Cell Significance Index: 11.6700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2953
    Cell Significance Index: 34.4100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2856
    Cell Significance Index: 6.8500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2847
    Cell Significance Index: 33.5800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2812
    Cell Significance Index: 7.0300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2461
    Cell Significance Index: 44.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2388
    Cell Significance Index: 29.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2132
    Cell Significance Index: 40.5700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2095
    Cell Significance Index: 14.4900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1483
    Cell Significance Index: 81.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1301
    Cell Significance Index: 3.4800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1149
    Cell Significance Index: 50.8100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0916
    Cell Significance Index: 4.8100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0618
    Cell Significance Index: 8.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0333
    Cell Significance Index: 0.9600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0228
    Cell Significance Index: 1.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0132
    Cell Significance Index: -24.8100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0169
    Cell Significance Index: -31.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0204
    Cell Significance Index: -31.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0229
    Cell Significance Index: -17.3600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0231
    Cell Significance Index: -31.4600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0265
    Cell Significance Index: -19.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0283
    Cell Significance Index: -0.9000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0293
    Cell Significance Index: -0.6400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0318
    Cell Significance Index: -23.5400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0322
    Cell Significance Index: -1.4600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0388
    Cell Significance Index: -0.8300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0406
    Cell Significance Index: -25.7600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0424
    Cell Significance Index: -1.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0445
    Cell Significance Index: -25.1200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0468
    Cell Significance Index: -29.2200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0493
    Cell Significance Index: -6.3800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0494
    Cell Significance Index: -5.0500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0614
    Cell Significance Index: -0.8800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0626
    Cell Significance Index: -28.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0752
    Cell Significance Index: -21.6300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0822
    Cell Significance Index: -10.5400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1037
    Cell Significance Index: -17.7000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1347
    Cell Significance Index: -28.3800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1445
    Cell Significance Index: -2.8200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1576
    Cell Significance Index: -3.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1712
    Cell Significance Index: -12.7600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1745
    Cell Significance Index: -12.3400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1771
    Cell Significance Index: -25.7500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1782
    Cell Significance Index: -9.2800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2127
    Cell Significance Index: -3.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2200
    Cell Significance Index: -25.2000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2468
    Cell Significance Index: -4.8800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2475
    Cell Significance Index: -6.6200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2560
    Cell Significance Index: -7.5400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2602
    Cell Significance Index: -15.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2705
    Cell Significance Index: -6.9100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3109
    Cell Significance Index: -24.6200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3152
    Cell Significance Index: -3.9100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3200
    Cell Significance Index: -3.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3389
    Cell Significance Index: -11.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3449
    Cell Significance Index: -9.0700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3571
    Cell Significance Index: -6.6000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.3727
    Cell Significance Index: -5.3600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3738
    Cell Significance Index: -23.5600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3932
    Cell Significance Index: -8.2300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3962
    Cell Significance Index: -8.4100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4039
    Cell Significance Index: -27.1600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4152
    Cell Significance Index: -4.9500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4247
    Cell Significance Index: -8.8100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4249
    Cell Significance Index: -13.9100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4272
    Cell Significance Index: -22.1900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4324
    Cell Significance Index: -13.7700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4328
    Cell Significance Index: -8.6900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4483
    Cell Significance Index: -12.8500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Mitotic spindle assembly checkpoint protein**: MAD1L1 is a key component of the mitotic spindle assembly checkpoint, ensuring proper chromosome segregation and preventing aneuploidy. 2. **Kinetochores and microtubule attachment**: MAD1L1 facilitates the attachment of microtubules to kinetochores, regulating the formation of the mitotic spindle. 3. **Regulation of metaphase plate congression**: MAD1L1 is involved in the regulation of metaphase plate congression, ensuring proper alignment of chromosomes during mitosis. 4. **Signaling pathways**: MAD1L1 interacts with various signaling pathways, including the Rho GTPase signaling pathway, to regulate cell cycle progression and mitotic spindle assembly. **Pathways and Functions:** 1. **Amplification of signal from kinetochores**: MAD1L1 amplifies the signal from kinetochores, ensuring proper attachment of microtubules and spindle assembly. 2. **Attachment of mitotic spindle microtubules to kinetochore**: MAD1L1 facilitates the attachment of microtubules to kinetochores, regulating the formation of the mitotic spindle. 3. **Regulation of metaphase plate congression**: MAD1L1 regulates metaphase plate congression, ensuring proper alignment of chromosomes during mitosis. 4. **Regulation of mitotic spindle assembly checkpoint**: MAD1L1 is involved in the regulation of the mitotic spindle assembly checkpoint, ensuring proper chromosome segregation and preventing aneuploidy. **Clinical Significance:** Dysregulation of MAD1L1 has been implicated in various diseases, including: 1. **Cancer**: MAD1L1 mutations have been associated with aneuploidy and tumorigenesis in various cancers, including breast, lung, and colon cancer. 2. **Neurological disorders**: MAD1L1 has been implicated in neurological disorders, including Alzheimer's disease and Parkinson's disease, where it plays a role in mitotic spindle assembly and neuronal survival. 3. **Immunological disorders**: MAD1L1 has been implicated in immunological disorders, including multiple sclerosis and autoimmune diseases, where it plays a role in T cell proliferation and differentiation. In conclusion, MAD1L1 plays a critical role in the assembly and regulation of the mitotic spindle, ensuring proper chromosome segregation and preventing aneuploidy. Its dysregulation has been implicated in various diseases, highlighting its importance in human health and disease.

Genular Protein ID: 3893795032

Symbol: MD1L1_HUMAN

Name: Mitotic spindle assembly checkpoint protein MAD1

UniProtKB Accession Codes:

Q9Y6D9 B3KR41 Q13312 Q75MI0 Q86UM4 Q9UNH0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 10 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 23 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 6 RefSeq 6 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9546394

Title: Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1.

PubMed ID: 9546394

DOI: 10.1016/s0092-8674(00)81148-4

PubMed ID: 10198256

Title: Phosphorylation of human MAD1 by the BUB1 kinase in vitro.

PubMed ID: 10198256

DOI: 10.1006/bbrc.1999.0514

PubMed ID: 10049595

Title: Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5.

PubMed ID: 10049595

DOI: 10.1006/geno.1998.5654

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14978040

Title: NEK2A interacts with MAD1 and possibly functions as a novel integrator of the spindle checkpoint signaling.

PubMed ID: 14978040

DOI: 10.1074/jbc.m314205200

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 19010891

Title: Role of a novel splice variant of mitotic arrest deficient 1 (MAD1), MAD1beta, in mitotic checkpoint control in liver cancer.

PubMed ID: 19010891

DOI: 10.1158/0008-5472.can-08-2600

PubMed ID: 18981471

Title: Tpr directly binds to Mad1 and Mad2 and is important for the Mad1-Mad2-mediated mitotic spindle checkpoint.

PubMed ID: 18981471

DOI: 10.1101/gad.1677208

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19273613

Title: Spatiotemporal control of mitosis by the conserved spindle matrix protein Megator.

PubMed ID: 19273613

DOI: 10.1083/jcb.200811012

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20133940

Title: Nucleoporin translocated promoter region (Tpr) associates with dynein complex, preventing chromosome lagging formation during mitosis.

PubMed ID: 20133940

DOI: 10.1074/jbc.m110.105890

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22351768

Title: RED, a spindle pole-associated protein, is required for kinetochore localization of MAD1, mitotic progression, and activation of the spindle assembly checkpoint.

PubMed ID: 22351768

DOI: 10.1074/jbc.m111.299131

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24374861

Title: 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.

PubMed ID: 24374861

DOI: 10.1002/path.4319

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 29162720

Title: Direct interactions of mitotic arrest deficient 1 (MAD1) domains with each other and MAD2 conformers are required for mitotic checkpoint signaling.

PubMed ID: 29162720

DOI: 10.1074/jbc.ra117.000555

PubMed ID: 12006501

Title: Crystal structure of the tetrameric Mad1-Mad2 core complex: implications of a 'safety belt' binding mechanism for the spindle checkpoint.

PubMed ID: 12006501

DOI: 10.1093/emboj/21.10.2496

PubMed ID: 10366450

Title: Characterization of MAD2B and other mitotic spindle checkpoint genes.

PubMed ID: 10366450

DOI: 10.1006/geno.1999.5831

PubMed ID: 10597320

Title: Search for in vivo somatic mutations in the mitotic checkpoint gene, hMAD1, in human lung cancers.

PubMed ID: 10597320

DOI: 10.1038/sj.onc.1203141

PubMed ID: 11423979

Title: Mutations in the mitotic check point gene, MAD1L1, in human cancers.

PubMed ID: 11423979

DOI: 10.1038/sj.onc.1204421

PubMed ID: 36322655

Title: Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.

PubMed ID: 36322655

DOI: 10.1126/sciadv.abq5914

Sequence Information:

  • Length: 718
  • Mass: 83067
  • Checksum: DA65529856A37EE3
  • Sequence:
    • MEDLGENTMV LSTLRSLNNF ISQRVEGGSG LDISTSAPGS LQMQYQQSMQ LEERAEQIRS 
KSHLIQVERE KMQMELSHKR ARVELERAAS TSARNYEREV DRNQELLTRI RQLQEREAGA 
EEKMQEQLER NRQCQQNLDA ASKRLREKED SLAQAGETIN ALKGRISELQ WSVMDQEMRV 
KRLESEKQEL QEQLDLQHKK CQEANQKIQE LQASQEARAD HEQQIKDLEQ KLSLQEQDAA 
IVKNMKSELV RLPRLERELK QLREESAHLR EMRETNGLLQ EELEGLQRKL GRQEKMQETL 
VGLELENERL LAKLQSWERL DQTMGLSIRT PEDLSRFVVE LQQRELALKD KNSAVTSSAR 
GLEKARQQLQ EELRQVSGQL LEERKKRETH EALARRLQKR VLLLTKERDG MRAILGSYDS 
ELTPAEYSPQ LTRRMREAED MVQKVHSHSA EMEAQLSQAL EELGGQKQRA DMLEMELKML 
KSQSSSAEQS FLFSREEADT LRLKVEELEG ERSRLEEEKR MLEAQLERRA LQGDYDQSRT 
KVLHMSLNPT SVARQRLRED HSQLQAECER LRGLLRAMER GGTVPADLEA AAASLPSSKE 
VAELKKQVES AELKNQRLKE VFQTKIQEFR KACYTLTGYQ IDITTENQYR LTSLYAEHPG 
DCLIFKATSP SGSKMQLLET EFSHTVGELI EVHLRRQDSI PAFLSSLTLE LFSRQTVA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.