Gene
psmb1
- ID
- ZDB-GENE-040618-2
- Name
- proteasome 20S subunit beta 1
- Symbol
- psmb1 Nomenclature History
- Previous Names
-
- proteasome beta-subunit C5 (1)
- wu:fc51f06
- zgc:103665
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Acts upstream of or within brain development and cellular response to ethanol. Predicted to be part of proteasome core complex. Predicted to be active in cytoplasm and nucleus. Is expressed in head; head muscle; and pharyngeal arch. Used to study fetal alcohol spectrum disorder; intellectual disability; and microcephaly. Orthologous to human PSMB1 (proteasome 20S subunit beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language | 620038 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Nucleophile aminohydrolases, N-terminal | Proteasome beta-type subunit, conserved site | Proteasome B-type subunit | Proteasome, subunit alpha/beta |
|---|---|---|---|---|---|---|
| UniProtKB:Q6DRF3 | InterPro | 237 |
Interactions and Pathways
No data available
Plasmids
No data available