Gene
nsd1b
- ID
- ZDB-GENE-080519-2
- Name
- nuclear receptor binding SET domain protein 1b
- Symbol
- nsd1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have histone methyltransferase activity (H3-K36 specific). Predicted to be involved in regulation of transcription, DNA-templated. Predicted to localize to chromatin and nucleus. Human ortholog(s) of this gene implicated in Sotos syndrome; 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
- 2 figures from 2 publications
- 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 | 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 | 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 | 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:A0A8M9PJB1
|
1873 |
Interactions and Pathways
No data available
Plasmids
No data available