EC Number   |
General Information |
Reference |
|---|
    2.1.1.354 | malfunction |
an enzyme deficiency promotes fat accumulation in worms with a specific enrichment of mono-unsaturated fatty acids |
754890 |
| 2.1.1.354 | malfunction |
enzyme knockout spontaneously induces medulloblastoma. Enzyme loss upregulates oncogenic Ras and Notch pathways while downregulating neuronal gene expression programs. Enzyme loss downregulates tumor suppressor genes (e.g., Dnmt3a and Bcl6). Enzyme loss increases cell proliferation in the cerebellum but negatively impacts cerebellar neurons |
754712 |
| 2.1.1.354 | malfunction |
enzyme loss induces benomyl resistance. Enzyme mutants display a thick mitotic spindle and a defect in the release of the spindle assembly checkpoint |
-, 753744 |
| 2.1.1.354 | malfunction |
histone H3(K4) di- and trimethylations are significantly reduced in dSet1 mutants during late larval und post-larval stages |
719561 |
| 2.1.1.354 | malfunction |
Mll1 knockout is embryonic lethal and affects development of the hematopoietic system. Germ-line deletions of Mll2 result in delayed development early in embryogenesis, neural tube defects and widespread apoptosis. Knockdown of Mll3 or knockout of Mll4 in hematopoietic stem/multipotent progenitor cells (HSPCs) results in impaired differentiation of HSPCs and increased HSPC numbers. Erythroid-specific Setd1a deletion partially blocked erythropoiesis, resulting in mild anemia |
753350 |
| 2.1.1.354 | malfunction |
Prdm9-null mice show arrest of spermatogenesis and oogenesis at pachynema, impairment of double-strand break repair, chromosome asynapsis, and disrupted sex-body formation |
706758 |
| 2.1.1.354 | malfunction |
targeted inactivation of MLL3 H3K4 methyltransferase activity in the mouse causes ureter epithelial tumors, about 50% of MLL-deficient mice display unusual hyperproliferation and tumors in the innermost layer of ureter cells located close to the renal pelvis |
706544 |
| 2.1.1.354 | metabolism |
the enzyme indirectly downregulates Ras activators by enhancing DNMT3A-mediated DNA methylation. The enzyme indirectly antagonizes Notch pathway components (e.g., Hes1 and Jag1) by upregulating SIRT1/BCL6-mediated H4K16 deacetylation |
754712 |
| 2.1.1.354 | metabolism |
the enzyme is involved in calcium dependent signaling pathways through forming complexes with the phospholipase PLCB3, calcium/calmodulin dependent kinase CAMK2B, or calcineurin inhibitor RCAN3. The enzyme is involved in epigenetic transcriptional regulation |
756801 |
| 2.1.1.354 | physiological function |
Dpy-30 functions in the endosome to trans-Golgi network transport of cation-independent mannose 6-phosphate receptor, its knockdown results in the enrichment of internalized cation-independent mannose 6-phosphate receptor and recycling endosomes near cell protrusions. Dpy-30 and probably histone H3 lysine 4 methyltransferase play a role in the endosomal transport of specific cargo proteins |
704780 |
