Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about NSD1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
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| 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 |
Knowledge base pages for this entity
graph TD
NSD1["NSD1"]
neurodegeneration["neurodegeneration"]
NSD1 -->|"implicated_in"| neurodegeneration
style NSD1 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0| Target | Relation | Type | Str |
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Hypotheses where this entity is a therapeutic target
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Scientific analyses that reference this entity
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Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
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Scientific publications cited in analyses involving this entity
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Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning NSD1 in their description or question text
No additional research found