PSMB1

Chr 6AR

proteasome 20S subunit beta 1

Also known as: HC5, NEDMHAL, PMSB1, PSC5

NCBI Gene: 5689ENSG00000008018UniProt: P20618OMIM: 602017

PSMB1 encodes a non-catalytic beta subunit of the 20S proteasome core complex, which degrades intracellular proteins through both ubiquitin-dependent and ubiquitin-independent pathways to maintain cellular protein homeostasis. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, hypotonia, and absent language. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.28), indicating that functional copies are critical for normal development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.281 OMIM phenotype
Clinical Summary— PSMB1
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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.28LOEUF
pLI 0.970
Z-score 3.05
OE 0.00 (0.00–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.87Z-score
OE missense 0.79 (0.68–0.93)
109 obs / 137.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.28)
0≤0.351.4
Missense OE0.79 (0.68–0.93)
0≤0.61.4
Synonymous OE1.06
0≤1.21.6
LoF obs/exp: 0 / 10.8Missense obs/exp: 109 / 137.9Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PSMB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Circ-PSMB1 knockdown inhibits the pyroptosis of ox-LDL treated human aortic cells via the miR-624-3p/ASC axis.
Zhou Y et al.·J Cardiothorac Surg
2025Open Access
The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis.
Miller BM et al.·JCI Insight
2024Open Access
Discovery of Kinetin in inhibiting colorectal cancer progression via enhancing PSMB1-mediated RAB34 degradation.
Jiang X et al.·Cancer Lett
2024
PSMB1 Inhibits the Replication of Porcine Reproductive and Respiratory Syndrome Virus by Recruiting NBR1 To Degrade Nonstructural Protein 12 by Autophagy.
Li L et al.·J Virol
2023
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar M et al.·Hum Mol Genet
2020
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients