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The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001555 [oocyte growth] GO:0001701 [in utero embryonic development] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0006342 [chromatin silencing] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0008284 [positive regulation of cell proliferation] GO:0010468 [regulation of gene expression] GO:0033148 [positive regulation of intracellular estrogen receptor signaling pathway] GO:0035097 [histone methyltransferase complex] GO:0042800 [histone methyltransferase activity (H3-K4 specific)] GO:0043627 [response to estrogen] GO:0044212 [transcription regulatory region DNA binding] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048477 [oogenesis] GO:0051568 [histone H3-K4 methylation]
