KMT2E

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) 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.

LYSINE METHYLTRANSFERASE 2E

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).

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

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

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.

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.