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

Name: Mouse Anti-KMT2E Recombinant Antibody (CBFYM-1195)
SKU: CBMAB-M1352-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYM-1195

Application

WB, IP, IF, IHC-P, ELISA

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.

More Infomation

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.

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

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

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