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Mouse Anti-MBTD1 (AA 130-566) Recombinant Antibody (CBFYM-0786) (CBMAB-M0930-FY)

This product is mouse antibody that recognizes MBTD1. The antibody CBFYM-0786 can be used for immunoassay techniques such as: IP, WB.
See all MBTD1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-0786
Antibody Isotype
IgG1
Application
IP, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
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
0.09% Sodium azide
Concentration
0.5 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.
Epitope
AA 130-566

Target

Full Name
MBT DOMAIN CONTAINING 1
Introduction
MBTD1 is a Protein Coding gene. Diseases associated with MBTD1 include Endometrial Stromal Sarcoma and Endometrial Stromal Nodule. Among its related pathways are Mesodermal Commitment Pathway. An important paralog of this gene is L3MBTL2.
Entrez Gene ID
UniProt ID
Alternative Names
Mbt Domain Containing 1; MBT Domain-Containing Protein 1; SA49P01
Function
Chromatin reader component of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:27153538, PubMed:32209463).

The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR) (PubMed:27153538).

MBTD1 specifically recognizes and binds monomethylated and dimethylated 'Lys-20' on histone H4 (H4K20me1 and H4K20me2, respectively) (PubMed:19841675, PubMed:27153538, PubMed:32209463).

In the NuA4 complex, MBTD1 promotes recruitment of the complex to H4K20me marks by competing with TP53BP1 for binding to H4K20me (PubMed:27153538).

Following recruitment to H4K20me at DNA breaks, the NuA4 complex catalyzes acetylation of 'Lys-15' on histone H2A (H2AK15), blocking the ubiquitination mark required for TP53BP1 localization at DNA breaks, thereby promoting homologous recombination (HR) (PubMed:27153538).
Biological Process
Chromatin organization Source: UniProtKB-KW
Double-strand break repair via homologous recombination Source: UniProtKB
Embryonic skeletal system development Source: Ensembl
Histone acetylation Source: ComplexPortal
Histone H2A acetylation Source: ComplexPortal
Histone H4 acetylation Source: ComplexPortal
Negative regulation of transcription, DNA-templated Source: GO_Central
Positive regulation of double-strand break repair via homologous recombination Source: ComplexPortal
Positive regulation of transcription, DNA-templated Source: ComplexPortal
Regulation of apoptotic process Source: ComplexPortal
Regulation of cell cycle Source: ComplexPortal
Regulation of double-strand break repair Source: ComplexPortal
Cellular Location
Nucleus
Other locations
Chromosome
Involvement in disease
A chromosomal aberration involving MBTD1 is a cause of acute poorly differentiated myeloid leukemia. Translocation (10;17)(p15;q21) with ZMYND11.

Takubo, K., Htun, P. W., Ueda, T., Sera, Y., Iwasaki, M., Koizumi, M., ... & Honda, H. (2023). MBTD1 preserves adult hematopoietic stem cell pool size and function. Proceedings of the National Academy of Sciences, 120(32), e2206860120.

Devoucoux, M., Fort, V., Khelifi, G., Xu, J., Alerasool, N., Galloy, M., ... & Côté, J. (2022). Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes. Cell Reports, 39(11).

Li, J., Galbo Jr, P. M., Gong, W., Storey, A. J., Tsai, Y. H., Yu, X., ... & Wang, G. G. (2021). ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism. Nature communications, 12(1), 1045.

Han, L., Liu, Y. J., Ricciotti, R. W., & Mantilla, J. G. (2020). A novel MBTD1‐PHF1 gene fusion in endometrial stromal sarcoma: a case report and literature review. Genes, Chromosomes and Cancer, 59(7), 428-432.

Zhang, H., Devoucoux, M., Song, X., Li, L., Ayaz, G., Cheng, H., ... & Min, J. (2020). Structural basis for EPC1-mediated recruitment of MBTD1 into the NuA4/TIP60 acetyltransferase complex. Cell reports, 30(12), 3996-4002.

Fu, D., Lu, C., Qu, X., Li, P., Chen, K., Shan, L., & Zhu, X. (2019). LncRNA TTN-AS1 regulates osteosarcoma cell apoptosis and drug resistance via the miR-134-5p/MBTD1 axis. Aging (Albany NY), 11(19), 8374.

Plesa, A., & Sujobert, P. (2019). Cannibalistic acute myeloid leukemia with ZMYND11-MBTD1 fusion. blood, 133(16), 1789.

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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