Nsd1 Gene Summary [Mouse]
Enables several functions, including nuclear receptor binding activity; protein-lysine N-methyltransferase activity; and transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within gastrulation with mouth forming second. Located in nucleus. Is expressed in several structures, including central nervous system; dorsal root ganglion; genitourinary system; long bone epiphysis; and retina. Human ortholog(s) of this gene implicated in Sotos syndrome; Sotos syndrome 1; acute myeloid leukemia; microcephaly; and neuroblastoma. Orthologous to human NSD1 (nuclear receptor binding SET domain protein 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Nsd1 |
| Official Name | nuclear receptor-binding SET-domain protein 1 [Source:MGI Symbol;Acc:MGI:1276545] |
| Ensembl ID | ENSMUSG00000021488 |
| Bio databases IDs | |
| Aliases | nuclear receptor-binding SET-domain protein 1 |
| Synonyms | ARA267, KMT3B, LOC202347, nuclear receptor-binding SET-domain protein 1, SOTOS, SOTOS1, STO |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Nsd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- transcription regulator
- LXXLL motif
- AWS domain
- retinoic acid receptor binding
- transcription co-repressor
- SET binding domain
- transcription cofactor
- PWWP domain
- androgen receptor binding
- chromatin binding
- estrogen receptor binding
- histone lysine N-methyltransferase activity (H4-K20 specific)
- associated with SET domains
- zinc ion binding
- histone lysine N-methyltransferase activity (H3-K36 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- nuclear receptor domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- catalytic domain
- nucleic acid binding
- nuclear localization sequence
- PWWP (Pro-Trp-Trp-Pro) domain
- protein binding
- thyroid hormone receptor binding
- sequence-specific DNA binding
- histone methyltransferase
- double-stranded DNA binding
- PHD finger superfamily
- retinoid X receptor binding
- NSD Cys-His rich domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastasis
- pain
- non-insulin-dependent diabetes mellitus
- hepatocellular carcinoma
- breast adenocarcinoma
- cancer
- epithelial cancer
- liver cancer
- head and neck squamous cell cancer
role in cell
- expression in
- activation in
- proliferation
- transcription in
- apoptosis
- tazemetostat resistance
- GSK2816126 resistance
- dimethylation in
- monomethylation in
- trimethylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Nsd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- positive regulation of transcription, DNA-dependent
- regulation of transcription, DNA-dependent
- regulation of peptidyl-serine phosphorylation
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- histone methyltransferase activity (H3-K36 specific)
- chromatin binding
- retinoic acid receptor binding
- retinoid X receptor binding
- thyroid hormone receptor binding
- histone methyltransferase activity (H4-K20 specific)
- protein binding
- transcription cofactor activity
- androgen receptor binding
- transcription corepressor activity
- estrogen receptor binding