Details for: MAD1L1

Gene ID: 8379

Symbol: MAD1L1

Ensembl ID: ENSG00000002822

Description: mitotic arrest deficient 1 like 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 2.33
    Marker Score: 6585
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 1.79
    Marker Score: 2152
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.72
    Marker Score: 538
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.67
    Marker Score: 10031.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.65
    Marker Score: 3895
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.65
    Marker Score: 10531.5
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.6
    Marker Score: 12293
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167296
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.46
    Marker Score: 469
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.45
    Marker Score: 28940
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.45
    Marker Score: 873.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.43
    Marker Score: 87946
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.39
    Marker Score: 2150
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.38
    Marker Score: 12997
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.37
    Marker Score: 51970
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.37
    Marker Score: 3715
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.35
    Marker Score: 913
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.34
    Marker Score: 21029
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.32
    Marker Score: 379
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.28
    Marker Score: 11023
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.28
    Marker Score: 4724
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.27
    Marker Score: 581
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.26
    Marker Score: 11973
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.25
    Marker Score: 4830
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.24
    Marker Score: 12824
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.22
    Marker Score: 1319
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.21
    Marker Score: 44531
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.2
    Marker Score: 504.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.18
    Marker Score: 17666
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.18
    Marker Score: 1188
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.17
    Marker Score: 4784
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 1.17
    Marker Score: 1030
  • Cell Name: pre-B-I cell (CL0000956)
    Fold Change: 1.14
    Marker Score: 290
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.13
    Marker Score: 4665
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.07
    Marker Score: 56553
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.07
    Marker Score: 1511
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.06
    Marker Score: 10514
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.06
    Marker Score: 4548
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.06
    Marker Score: 591.5
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.05
    Marker Score: 763
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.04
    Marker Score: 22215
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71681
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47905
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.99
    Marker Score: 258
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 0.99
    Marker Score: 2422
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.99
    Marker Score: 1926
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30390
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.98
    Marker Score: 2736
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.96
    Marker Score: 355
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2401
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 484
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.93
    Marker Score: 2403
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 0.93
    Marker Score: 2920
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.91
    Marker Score: 373
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.91
    Marker Score: 1625
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.91
    Marker Score: 349
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2709
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.89
    Marker Score: 358
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5080
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.89
    Marker Score: 441
  • Cell Name: memory regulatory T cell (CL0002678)
    Fold Change: 0.89
    Marker Score: 309
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.88
    Marker Score: 14199
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.88
    Marker Score: 1017
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.88
    Marker Score: 1000.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.88
    Marker Score: 421
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.88
    Marker Score: 526
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.88
    Marker Score: 1687
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.88
    Marker Score: 1717
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 0.87
    Marker Score: 843
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.87
    Marker Score: 637
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.87
    Marker Score: 959
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.87
    Marker Score: 8781
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.86
    Marker Score: 235
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 0.86
    Marker Score: 1468
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.85
    Marker Score: 868
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.85
    Marker Score: 315
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.84
    Marker Score: 1211
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.84
    Marker Score: 408
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.84
    Marker Score: 524
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.84
    Marker Score: 1230
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 0.83
    Marker Score: 253
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.82
    Marker Score: 1348
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.82
    Marker Score: 235
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.81
    Marker Score: 470
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.81
    Marker Score: 388
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.81
    Marker Score: 398
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.8
    Marker Score: 1305
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.8
    Marker Score: 738
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.8
    Marker Score: 197
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 604
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.79
    Marker Score: 761
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.79
    Marker Score: 605
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.78
    Marker Score: 9119
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.78
    Marker Score: 1104
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.77
    Marker Score: 3239
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.77
    Marker Score: 836

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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:

Database IDs:

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. For the full schema, download it here.