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 enable histone H3K36 methyltransferase activity. Acts upstream of or within heterochromatin formation. 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
- 3 figures from 3 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ga258 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa24006 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30724 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37358 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43693 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43694 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Sotos syndrome 1 | Alliance | Sotos syndrome | 117550 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | AWS domain | 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 | 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 | InterPro | 1873 | ||||||||||||||||
| UniProtKB:A0AB32TC42 | InterPro | 1872 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-13F9 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-106J22 |
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