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. Acts upstream of or within heterochromatin formation. 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 |
| Domain | IPR055197 | Histone-lysine N-methyltransferase NSD-like, variant PHD zinc finger |
| Domain | IPR055198 | Histone-lysine N-methyltransferase NSD-like, PHD zinc 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 | Histone-lysine N-methyltransferase NSD-like, PHD zinc finger | Histone-lysine N-methyltransferase NSD-like, variant PHD zinc 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