UniProt ID: Q08C84 |
FUNCTION: Plays a critical role in cardiac development (PubMed:30110327). Acts as a key epigenetic regulator of gene expression during cardiac development via its dual activities as a methyltransferase and negative regulator of HDAC1 (PubMed:30110327). {ECO:0000269|PubMed:30110327}. SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8BTK5}. Cytoplasm {ECO:0000250|UniProtKB:Q8BTK5}. DEVELOPMENTAL STAGE: Ubiquitously expressed in early embryos and becomes enriched in the developing heart at 48 hours post- fertilization. {ECO:0000269|PubMed:30110327}. DISRUPTION PHENOTYPE: Mutants generated by CRISPR-Cas9-mediated gene editing exhibit severe cardiac malformations, including defects in left-right patterning and looping and hypoplastic ventricles. {ECO:0000269|PubMed:30110327}. SIMILARITY: Belongs to the class V-like SAM-binding methyltransferase superfamily. {ECO:0000255|PROSITE-ProRule:PRU00190}. |
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