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Mouse Anti-KMT2E Recombinant Antibody (CBFYM-1195) (CBMAB-M1352-FY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-1195
Application
WB, IP, IF, IHC-P, ELISA

Basic Information

Specificity
Human
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
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
LYSINE METHYLTRANSFERASE 2E
Introduction
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized.
Entrez Gene ID
55904
UniProt ID
Q8IZD2
Alternative Names
Lysine Methyltransferase 2E; Myeloid/Lymphoid Or Mixed-Lineage Leukemia 5 (Trithorax Homolog, Drosophila); Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 5; Lysine (K)-Specific Methyltransferase 2E; MLL5; Histone-Lysine N-Methyltransferase MLL5
Function
Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402).
Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402).
Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity).
Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655).
Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655).
During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity).
Biological Process
Cell cycleIEA:UniProtKB-KW
Chromatin organizationIEA:UniProtKB-KW
DNA methylationISS:UniProtKB
Erythrocyte differentiationISS:UniProtKB
Neutrophil activationISS:UniProtKB
Neutrophil mediated immunityISS:UniProtKB
Positive regulation of G1/S transition of mitotic cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of histone H3-K4 trimethylationManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Chromosome
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Nucleus speckle
Absent from the nucleolus (PubMed:14718661).
Localizes to chromosome during interphase and to centrosomes during mitosis (PubMed:23798402).
Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402).
Isoform 3:
Nucleus, nucleoplasm
Nucleus speckle
Absent from the nucleolus (PubMed:23629655).
Localizes to chromosome during interphase and to nucleus speckle during mitosis (PubMed:23798402).
Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402).
Isoform NKp44L:
Cytoplasm
Cell membrane; Peripheral membrane protein
Philippe Le Mercier
Involvement in disease
O'Donnell-Luria-Rodan syndrome (ODLURO):
A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities.
PTM
Ubiquitinated. Deubiquitinated by USP7.
O-glycosylated at Ser-435 and Thr-440 in the SET domain by OGT which probably prevents KMT2E proteasomal-mediated degradation.
More Infomation

Li, Y. J., Li, C. Y., Li, C. Y., Hu, D. X., Xv, Z. B., Zhang, S. H., ... & Chen, X. Q. (2023). KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice. Molecular Neurobiology, 60(3), 1609-1625.

Hashim, M., Stewart, H., Yu, J., Banos-Pinero, B., Pagnamenta, A. T., & Taylor, J. C. (2023). Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome. Clinical Genetics.

Melchinger, E. U. (2022). Haploinsufficiency of KMT2E results in transcriptional changes and leads to non-syndromic intellectual disability (Doctoral dissertation, Universität Tübingen).

Cao, Z., Wang, C., Chen, J., Guo, H., Wu, C., Zhang, G., & Ding, L. (2022). Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient. Frontiers in Pediatrics, 10, 822096.

Li, Y., Fan, L., Luo, R., Yang, Z., Yuan, M., Zhang, J., & Gan, J. (2021). Case Report: De novo variants of KMT2E cause O'Donnell-Luria-Rodan syndrome: Additional cases and literature review. Frontiers in Pediatrics, 9, 641841.

Sharawat, I. K., Panda, P. K., & Dawman, L. (2020). Clinical Characteristics and Genotype–Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. Neuropediatrics, 52(02), 098-104.

O’Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., ... & Islam, L. (2019). Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy. The American Journal of Human Genetics, 104(6), 1210-1222.

Fan, C., Liu, X., Li, W., Wang, H., Teng, Y., Ren, J., & Huang, Y. (2019). Circular RNA circ KMT2E is up-regulated in diabetic cataract lenses and is associated with miR-204-5p sponge function. Gene, 710, 170-177.

Almeida, L. Y., Weinhäuser, I., Pereira-Martins, D. A., Schiavinato, J. L., Palma, P. V. B., Bonaldo, C., ... & Rego, E. M. (2018). KMT2E-Mediated Epigenetic Reprogramming Promotes the Sensitivity to All-Trans Retinoic Acid and Increases the Granulocytic Differentiation in AML Cells. Blood, 132, 3838.

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

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