| Gene Symbol | NSD1 |
| Full Name | Nuclear Receptor Binding SET Domain Protein 1 |
| Chromosome | 5q35.3 |
| Protein Type | Transferase |
| Function | encodes a histone lysine methyltransferase of the nuclear receptor SET domain (NSD) family that catalyzes mono- and dimethylation of histone H3 at lysine 36 (H3K36me1/2). |
| Amino Acids | 2696 aa |
| UniProt ID | [Q96L73](https://www.uniprot.org/uniprot/Q96L73) |
| Ensembl ID | ENSG00000165671 |
| GeneCards | NSD1 |
| Human Protein Atlas | NSD1 |
| SET domain | Catalytic methyltransferase domain responsible for H3K36 methylation |
| PWWP domain | Reads existing H3K36me marks, enabling spreading of the modification along gene bodies |
| PHD fingers (5x) | Recognize various histone modifications for chromatin targeting |
| Alternative splicing regulation | H3K36me2/3 marks recruit splicing factors to pre-mRNAs during co-transcriptional processing; NSD1 loss causes widespread splicing dysregulation in neurons |
| Histone crosstalk | H3K36me2 antagonizes PRC2-mediated H3K27me3 deposition, maintaining the boundary between active and repressed chromatin domains |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsNCBI GeneHPASTRING |
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