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Mouse Anti-MAD1L1 Recombinant Antibody (CBFYM-0230) (CBMAB-M0275-FY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-0230
Antibody Isotype
IgG2b
Application
ELISA, IF, IP, WB

Basic Information

Immunogen
Recombinant full length MAD1 protein (Human)
Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS
Preservative
0.1% Sodium azide
Concentration
2 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Mitotic Arrest Deficient 1 Like 1
Introduction
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
8379
UniProt ID
Q9Y6D9
Alternative Names
Mitotic Arrest Deficient 1 Like 1; Mitotic Arrest Deficient 1-Like Protein 1; Mitotic Checkpoint MAD1 Protein Homolog; MAD1 Mitotic Arrest Deficient Like 1; Tax-Binding Protein 181; MAD1-Like Protein 1; TXBP181; MAD1; MAD1 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 1
Function
Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:10049595, PubMed:20133940, PubMed:29162720).
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 (PubMed:29162720).
Isoform 3
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.
Biological Process
Attachment of mitotic spindle microtubules to kinetochoreManual Assertion Based On ExperimentIBA:GO_Central
Cell divisionIEA:UniProtKB-KW
Cytoplasmic sequestering of proteinIDA:UniProtKB
Deactivation of mitotic spindle assembly checkpointIDA:UniProtKB
Mitotic spindle assembly checkpoint signalingManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of T cell proliferationIEA:Ensembl
Positive regulation of mitotic cell cycle spindle assembly checkpointManual Assertion Based On ExperimentIDA:ComplexPortal
Regulation of metaphase plate congressionManual Assertion Based On ExperimentIDA:UniProtKB
Thymus developmentIEA:Ensembl
Cellular Location
Nucleus
Chromosome, centromere, kinetochore
Nucleus envelope
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Cytoplasm, cytoskeleton, spindle
Cytoplasm, cytoskeleton, spindle pole
Co-localizes with TPR at the nucleus envelope during interphase and throughout the cell cycle (PubMed:22351768, PubMed:18981471).
From the beginning to the end of mitosis, it is seen to move from a diffusely nuclear distribution to the centrosome, to the spindle midzone and finally to the midbody (PubMed:9546394).
Localizes to kinetochores during prometaphase (PubMed:22351768, PubMed:29162720).
Does not localize to kinetochores during metaphase (PubMed:29162720).
Colocalizes with NEK2 at the kinetochore (PubMed:14978040).
Colocalizes with IK at spindle poles during metaphase and anaphase (PubMed:22351768).
Involvement in disease
Defects in MAD1L1 are involved in the development and/or progression of various types of cancer.
PTM
Phosphorylated; by BUB1 (PubMed:10198256).
Become hyperphosphorylated in late S through M phases or after mitotic spindle damage (PubMed:9546394).
Phosphorylated; by TTK (PubMed:29162720).
More Infomation

Sokolov, A. V., Manu, D. M., Nordberg, D. O., Boström, A. D., Jokinen, J., & Schiöth, H. B. (2023). Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression. Clinical epigenetics, 15(1), 1.

Chan, Y., Liu, Y., Kong, Y., Xu, W., Zeng, X., Li, H., ... & Zhu, B. (2023). Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses. Frontiers in Genetics, 14, 1105184.

Villarroya-Beltri, C., Osorio, A., Torres-Ruiz, R., Gómez-Sánchez, D., Trakala, M., Sánchez-Belmonte, A., ... & Urioste, M. (2022). Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility. Science Advances, 8(44), eabq5914.

McKinney, B. C., McClain, L. L., Hensler, C. M., Wei, Y., Klei, L., Lewis, D. A., ... & Sweet, R. A. (2022). Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk. Translational Psychiatry, 12(1), 340.

Villarroya-Beltri, C., Osorio, A., Torres-Ruiz, R., Gomez-Sanchez, D., Trakala, M., Sanchez-Belmonte, A., ... & Urioste, M. (2022). Bilallelic germline mutations in MAD1L1 induce a novel syndrome of aneuploidy with high tumor susceptibility. bioRxiv, 2022-08.

Liu, X., Xie, H., Fu, Z., Yao, Q., Han, T., Zhan, D., ... & Zhu, H. (2021). MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population. BMC Medical Genomics, 14, 1-10.

McKinney, B. C., Hensler, C. M., Wei, Y., Lewis, D. A., Wang, J., Ding, Y., & Sweet, R. A. (2020). Schizophrenia-associated differential DNA methylation in the superior temporal gyrus is distributed to many sites across the genome and annotated by the risk gene MAD1L1. medRxiv, 2020-08.

Sun, Y., Kang, G., Zhu, X., Li, R., Kang, Q., Zhang, M., ... & Yu, Q. (2020). Association of MAD1L1 polymorphism (rs871925) with prenatal famine exposure and schizophrenia in a Chinese population: A case–control study. IUBMB life, 72(2), 259-265.

Bandala-Jacques, A., Hernández-Cruz, I. A., Castro-Hernández, C., Díaz-Chávez, J., Arriaga-Canon, C., Barquet-Muñoz, S. A., ... & Herrera, L. A. (2020). Prognostic significance of the MAD1L1 1673 G: a polymorphism in ovarian adenocarcinomas. Revista de investigación clínica, 72(6), 372-379.

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For research use only. Not intended for any clinical use.

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