Gene
nsd1a
- ID
- ZDB-GENE-080519-3
- Name
- nuclear receptor binding SET domain protein 1a
- Symbol
- nsd1a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable histone H3K36 methyltransferase activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within chromatin organization and methylation. Predicted to be located in chromosome. Predicted to be active in chromatin and nucleus. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Sun et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Calvird et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Sotos syndrome 1 | Alliance | Sotos syndrome | 117550 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019786 | Zinc finger, PHD-type, conserved site |
| Domain | IPR000313 | PWWP domain |
| Domain | IPR001214 | SET domain |
| Domain | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR006560 | AWS domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR041306 | NSD, Cys-His rich domain |
| Domain | IPR047426 | Histone-lysine N-methyltransferase NSD1 / NSD2, first PHD finger |
| Domain | IPR047429 | Nuclear receptor-binding SET domain-containing protein 1, third PHD finger |
| Domain | IPR047430 | Nuclear receptor-binding SET domain-containing protein 1, fourth PHD finger |
| Domain | IPR047432 | Nuclear receptor-binding SET domain-containing protein 1, fifth PHD finger |
| Family | IPR050777 | SET2 Histone-Lysine N-Methyltransferase |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
Domain Details Per Protein
| Protein | Length | AWS domain | Histone-lysine N-methyltransferase NSD1 / NSD2, first PHD finger | NSD, Cys-His rich domain | Nuclear receptor-binding SET domain-containing protein 1, fifth PHD finger | Nuclear receptor-binding SET domain-containing protein 1, fourth PHD finger | Nuclear receptor-binding SET domain-containing protein 1, third PHD finger | Post-SET domain | PWWP domain | SET2 Histone-Lysine N-Methyltransferase | SET domain | SET domain superfamily | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, PHD-type, conserved site | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QA79
|
2055 |
Interactions and Pathways
No data available
Plasmids
No data available