| Gene Symbol |
KMT2E
|
| Entrez Gene |
55904
|
| Alt Symbol |
HDCMC04P, MLL5, NKp44L
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
lysine (K)-specific methyltransferase 2E
|
| Other Description |
histone-lysine N-methyltransferase 2E|histone-lysine N-methyltransferase MLL5|myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)|myeloid/lymphoid or mixed-lineage leukemia protein 5
|
| Swissprots |
Q9NWE7 Q6PKG4 B6ZDE4 Q86WG0 Q86TI3 M4K8J3 B6ZDM3 Q8IZD2 Q6P5Y2 Q8IWR5 Q8IV78 Q8NFF8 Q86W12 Q86WL2 Q6T316
|
| Accessions |
AAD04721 EAW83355 EAW83356 EAW83357 EAW83358 Q8IZD2 AF067804 AAF75564 AF519459 AAM74947 AK000940 AK024088 BAB14821 AY113691 AY147037 AAN17675 AY157990 AAN76325 AY195568 AAO47009 AY195569 AAO47010 AY211525 AAO86416 AY222296 AAO64395 AY234382 AAO89072 AY438698 AAR13893 AY438699 AAR13894 BC001296 AAH01296 BC009061 BC016382 BC024658 BC040004 AAH40004 BC040848 BC053906 AAH53906 BC062583 AAH62583 BC142987 AAI42988 JQ809698 AGE34449 XM_005250493 XP_005250550 XM_006716049 XP_006716112 XM_011516400 XP_011514702 XR_927489 NM_018682 NP_061152 NM_182931 NP_891847 NM_032187
|
| 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.
|
| Subcellular Location |
Nucleus speckle {ECO:0000269|PubMed:14718661}. Note=Absent from the nucleolus. {ECO:0000269|PubMed:14718661}.
|
| 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. Isoform NKp44L is not detected on circulating cells from healthy individuals, but it is expressed on a large panel of the tumor and transformed cells. {ECO:0000269|PubMed:12101424, ECO:0000269|PubMed:23958951}.
|
| Top Pathways |
Lysine degradation
|