Recombinant Human Mitotic spindle assembly checkpoint protein MAD1 (MAD1L1)

Code CSB-YP897310HU
MSDS
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Source Yeast
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Code CSB-EP897310HU
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Source E.coli
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Code CSB-EP897310HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP897310HU
MSDS
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Source Baculovirus
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Code CSB-MP897310HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
MAD1L1
Uniprot No.
Alternative Names
hMAD1; HsMAD1; MAD1; MAD1 mitotic arrest deficient like 1 (yeast); MAD1-like protein 1; MAD1L1; MD1L1_HUMAN; Mitotic arrest deficient 1; Mitotic arrest deficient 1-like protein 1; Mitotic checkpoint MAD1 protein homolog; Mitotic spindle assembly checkpoint protein MAD1; PIG9; Tax binding protein 181; Tax-binding protein 181; TP53I9; Tumor protein p53 inducible protein 9; TXBP181
Species
Homo sapiens (Human)
Expression Region
1-718
Target Protein 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
Protein Length
full length protein
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Forms a heterotetrameric complex with the closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling.; Sequesters MAD2L1 in the cytoplasm preventing its function as an activator of the mitotic spindle assembly checkpoint (SAC) resulting in SAC impairment and chromosomal instability in hepatocellular carcinomas.
Gene References into Functions
  1. Data suggest that LMO7 interacts with MAD1 during spindle assembly phase of mitosis; LMO7 plays role in control of mitosis progression and exerts effect on spindle assembly checkpoint; LMO7 colocalizes with actin filaments; LMO7 does not colocalize with MAD1 at kinetochores in prometaphase nor at spindle poles in metaphase. (LMO7 = LIM domain only protein-7; MAD1 = mitotic spindle assembly checkpoint protein MAD1) PMID: 29158164
  2. Therefore, Mps1 promotes checkpoint activation through sequentially phosphorylating Knl1, Bub1, and Mad1. This sequential multi-target phosphorylation cascade makes the checkpoint highly responsive to Mps1 and to kinetochore-microtubule attachment. PMID: 28072388
  3. This study showed that MAD1L1 as a susceptibility gene for both of these genetically overlapping disorders is associated with a decreased bottom-up responsiveness of the mesolimbic reward system and related cortical regions involved in the salience network as well as with reduced top-down control processes. PMID: 27184339
  4. Results show that low DNA methylation levels of LINC00682, MAD1L1, and LINE-2 was strongly correlated with hepatocellular carcinomas recurrence, patient disease-free survival, and/or overall survival. PMID: 26138747
  5. MAD1L1 positive expression may be associated with tumour progression and metastasis in small-cell lung cancer (SCLC) and may thus serve as a new biomarker for prognosis in these patients. PMID: 26499943
  6. In this review, we highlight a novel Mad1 role in chromosome alignment, which is the first conserved mechanism that links the spindle assembly checkpoint and kinesin-mediated chromosome gliding. PMID: 26752263
  7. MAD1L1 Arg558His and MAD2L1 Leu84Met interaction with smoking increase the risk of colorectal cancer PMID: 26183163
  8. 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. PMID: 26528791
  9. 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. PMID: 25898113
  10. Mad1 has a role in secretion and cell migration. PMID: 25447996
  11. MAD1 kinetochore localization dictates the spindle assembly checkpoint in metaphase. PMID: 24695965
  12. This article reviews Mad1 and Mad2 - structural and functional relationship with implication in genetic diseases, specifically in cancer. [review] PMID: 24724894
  13. 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. PMID: 24477933
  14. An important role of ATM-mediated Mad1 Serine 214 phosphorylation in mitosis. PMID: 24728176
  15. Here we demonstrate that the centromere protein CENP-I is required to generate a stable association of RZZ and Mad1 with kinetochores. PMID: 24862574
  16. 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. PMID: 24374861
  17. Mad1, in addition to converting Mad2 to its active conformation, scaffolds formation of a higher-order mitotic checkpoint complex at kinetochores. PMID: 24637323
  18. 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. PMID: 24581499
  19. Tpr is required for normal SAC response by stabilizing Mad1 and Mad2 before mitosis. PMID: 24344181
  20. 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. PMID: 23860928
  21. High mad-1 expression is associated with myelodysplastic syndrome. PMID: 24095110
  22. 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 PMID: 23459071
  23. 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 PMID: 23407047
  24. Mad1 expression is inversely related to miR-125b expression in oral SCC tissues. PMID: 23099851
  25. 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. PMID: 22778409
  26. The expression of hTERT mRNA and deletion of Mad1 protein are closely related to pathogenesis of lung cancer. PMID: 19224688
  27. 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 PMID: 22493223
  28. 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 PMID: 21327106
  29. RED is required for kinetochore localization of MAD1, mitotic progression, and activation of the spindle assembly checkpoint. PMID: 22351768
  30. 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. PMID: 21772247
  31. TGFbeta1 induced MAD1 expression by recruitment C/EBPalpha/beta heterodimers, SP1, and SMAD3 binding to promoter of the MAD1. PMID: 21345218
  32. 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. PMID: 21394085
  33. These results suggest that genetic variants in MAD1L1 and MAD2L1 confer susceptibility to lung cancer. PMID: 20516147
  34. Suppression of telomerase activity mediated by PinX1 is involved in the Mad1/c-Myc pathway. PMID: 20544396
  35. Sustained Mps1 activity is required in mitosis to recruit O-Mad2 to the Mad1-C-Mad2 core complex. PMID: 20624899
  36. 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. PMID: 19762557
  37. Expression of mitotic spindle checkpoint protein hsMAD1 correlates with cellular proliferation and is activated by a gain-of-function p53 mutant. PMID: 11980658
  38. Hec1 was required for the recruitment of Mps1 kinase and Mad1/Mad2 complexes to kinetochores PMID: 12351790
  39. a regulatory mechanism for the mitotic checkpoint in which MAD1 is inhibited by p53. PMID: 12876282
  40. NEK2A interacts with MAD1 during spindle checkpoint signaling PMID: 14978040
  41. 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 PMID: 15782113
  42. Chromophobe renal cell carcinoma presented underexpression of MAD1, and MAD2L2. PMID: 17333263
  43. The MAD1 gene could be a candidate tumor suppressor gene, and the down-regulation of MAD1 expression may contribute to tumorigenesis in human stomach. PMID: 17674037
  44. PRP4 is a spindle assembly checkpoint protein required for MAD1 localization to the kinetochores. PMID: 17998396
  45. Existence of a symmetric Mad2 dimer with Mad1-assisted conformational activation in the spindle checkpoint. PMID: 18318601
  46. 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. PMID: 18491369
  47. mechanistic roles contributed by protein phosphorylation and Plk1 to the spindle assembly checkpoint activity of Mad1 PMID: 18922800
  48. Tpr regulates Mad1-Mad2 proteins are regulated during the cell cycle and mitotic spindle checkpoint signaling. PMID: 18981471
  49. 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. PMID: 19010891

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Involvement in disease
Defects in MAD1L1 are involved in the development and/or progression of various types of cancer.
Subcellular Location
Nucleus. Chromosome, centromere, kinetochore. Nucleus envelope. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole.; [Isoform 3]: Cytoplasm.
Protein Families
MAD1 family
Tissue Specificity
[Isoform 1]: Expressed in hepatocellular carcinomas and hepatoma cell lines (at protein level).; [Isoform 3]: Expressed in hepatocellular carcinomas and hepatoma cell lines (at protein level).
Database Links

HGNC: 6762

OMIM: 602686

KEGG: hsa:8379

STRING: 9606.ENSP00000265854

UniGene: Hs.654838

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