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The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0004402 [histone acetyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0006334 [nucleosome assembly] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0008134 [transcription factor binding] GO:0008270 [zinc ion binding] GO:0016407 [acetyltransferase activity] GO:0016573 [histone acetylation] GO:0016747 [transferase activity, transferring acyl groups other than amino-acyl groups] GO:0032403 [protein complex binding] GO:0043966 [histone H3 acetylation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0070776 [MOZ/MORF histone acetyltransferase complex]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)