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

Predicted to enable threonine-type endopeptidase activity. Acts upstream of or within brain development. Predicted to be located in cytoplasm and nucleus. Predicted to be part of proteasome core complex. Used to study intellectual disability and microcephaly. Orthologous to human PSMB1 (proteasome 20S subunit beta 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With psmb1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	620038

Associated With psmb1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
microcephaly	TU + MO2-psmb1	standard conditions	Ansar et al., 2020
intellectual disability	TU + CRISPR3-psmb1	standard conditions	Ansar et al., 2020
intellectual disability	TU + MO1-psmb1	standard conditions	Ansar et al., 2020
intellectual disability	TU + CRISPR1-psmb1 + CRISPR2-psmb1	standard conditions	Ansar et al., 2020

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR016050	Proteasome beta-type subunit, conserved site
Family	IPR001353	Proteasome, subunit alpha/beta
Family	IPR023333	Proteasome B-type subunit
Homologous_superfamily	IPR029055	Nucleophile aminohydrolases, N-terminal