Human Gene KMT2E (uc003vcm.3) Description and Page Index
Description: Homo sapiens lysine (K)-specific methyltransferase 2E (KMT2E), transcript variant 1, mRNA. RefSeq Summary (NM_182931): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr7:104,654,637-104,754,532 Size: 99,896 Total Exon Count: 27 Strand: + Coding Region Position: hg19 chr7:104,681,400-104,753,780 Size: 72,381 Coding Exon Count: 25
ID:MLL5_HUMAN DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase MLL5; EC=18.104.22.168; AltName: Full=Lysine N-methyltransferase 2E; Short=KMT2E; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 5; FUNCTION: Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and H3K4me2). H3 'Lys- 4' methylation represents a specific tag for epigenetic transcriptional activation. 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. Plays an essential role in retinoic- acid-induced granulopoiesis by acting as a coactivator of RAR- alpha (RARA) in target gene promoters. Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. Required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells. Overexpression inhibits cell cycle progression, while knockdown induces cell cycle arrest at both the G1 and G2/M phases. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. SUBUNIT: Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with RARA. INTERACTION: O15294:OGT; NbExp=4; IntAct=EBI-2689959, EBI-539828; P10276:RARA; NbExp=3; IntAct=EBI-2689959, EBI-413374; P04637:TP53; NbExp=4; IntAct=EBI-2689959, EBI-366083; SUBCELLULAR LOCATION: Nucleus speckle. Note=Absent from the nucleolus. TISSUE SPECIFICITY: Widely expressed in both adult and fetal tissues. Highest levels of expression observed in fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum. PTM: O-glycosylation at Thr-440 in the SET domain by OGT is essential for the histone methyltransferase and the coactivator activity toward RARA in granulopoiesis. The absence of Thr-440 glycosylation in assays done in vitro may explain why some authors did not detected any histone methyltransferase activity for this protein. SIMILARITY: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. SIMILARITY: Contains 1 PHD-type zinc finger. SIMILARITY: Contains 1 SET domain. SEQUENCE CAUTION: Sequence=AAH01296.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 492; Sequence=AAH40004.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 227; Sequence=AAH53906.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 227; Sequence=AAI42988.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 492;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IZD2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.