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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSMD11
proteasome 26S subunit, non-ATPase 11
Chromosome 17 · 17q11.2
NCBI Gene: 5717Ensembl: ENSG00000108671.12HGNC: HGNC:9556UniProt: O00231
268PubMed Papers
20Diseases
5Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusproteasome complexproteasome accessory complexstem cell differentiationmultiple myelomaneoplasmMantle cell lymphomaHIV infection
✦AI Summary

PSMD11 is a non-ATPase regulatory subunit of the 26S proteasome complex that plays critical roles in protein homeostasis and cellular function. As a component of the proteasome lid subcomplex, PSMD11 is essential for proteasome assembly and enhanced activity, particularly in embryonic stem cells where its high expression promotes increased 26S proteasome assembly 1. The protein regulates circadian clock function through modulation of PER and CRY nuclear translocation, affecting the relative abundance of circadian repressors in the nucleus 2. PSMD11 can be phosphorylated by PKA at Ser14, which activates proteasome function and promotes degradation of misfolded proteins 3. Loss-of-function variants in PSMD11 cause neurodevelopmental proteasomopathies characterized by early-onset syndromic intellectual disability, neurodevelopmental delay, and recurrent obesity, resulting from impaired 26S proteasome assembly and persistent type I interferon signaling 1. In cancer contexts, PSMD11 is overexpressed in hepatocellular carcinoma where it promotes proliferation by regulating CDK4 ubiquitination and stability 45, and serves as a prognostic biomarker in severe fever with thrombocytopenia syndrome, correlating with viral load and organ dysfunction 6. PSMD11 also influences inflammatory responses in glomerular mesangial cells through NF-κB signaling regulation 7.

Sources cited
1
PSMD11 loss-of-function variants cause neurodevelopmental proteasomopathies with intellectual disability and obesity; PSMD11 is essential for proteasome assembly
PMID: 38866022
2
PSMD11 regulates circadian clock function through PER and CRY nuclear translocation
PMID: 36961772
3
PSMD11 can be phosphorylated by PKA at Ser14 to activate proteasome function
PMID: 39477759
4
PSMD11 promotes hepatocellular carcinoma proliferation by regulating CDK4 ubiquitination
PMID: 38944255
5
PSMD11 is overexpressed in hepatocellular carcinoma and correlates with poor prognosis
PMID: 37212487
6
PSMD11 serves as prognostic biomarker in severe fever with thrombocytopenia syndrome
PMID: 41268558
7
PSMD11 influences inflammatory responses in glomerular mesangial cells through NF-κB signaling
PMID: 31652441
Disease Associationsⓘ20
multiple myelomaOpen Targets
0.60Moderate
neoplasmOpen Targets
0.51Moderate
Mantle cell lymphomaOpen Targets
0.50Moderate
HIV infectionOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.39Weak
amyloidosisOpen Targets
0.37Weak
Short statureOpen Targets
0.33Weak
smoking initiationOpen Targets
0.17Weak
attention deficit hyperactivity disorderOpen Targets
0.15Weak
substance abuseOpen Targets
0.15Weak
cervical carcinomaOpen Targets
0.15Weak
non-small cell lung carcinomaOpen Targets
0.12Weak
lymphomaOpen Targets
0.11Weak
Waldenstrom macroglobulinemiaOpen Targets
0.11Weak
non-Hodgkins lymphomaOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.11Weak
dislocationOpen Targets
0.10Weak
AL amyloidosisOpen Targets
0.10Suggestive
leukemiaOpen Targets
0.10Suggestive
chronic graft versus host diseaseOpen Targets
0.09Suggestive
Pathogenic Variants3
NM_002815.4(PSMD11):c.559C>T (p.Arg187Ter)Pathogenic
PSMD11-Related Disorders
★☆☆☆2025→ Residue 187
NM_002815.4(PSMD11):c.572C>T (p.Thr191Ile)Likely pathogenic
PSMD11-associated obesity and neurodevelopmental disorder
★☆☆☆2025→ Residue 191
NM_002815.3(PSMD11):c.850-3_850delCAGAPathogenic
Short stature
☆☆☆☆2001
View on ClinVar ↗
Drug Targets5
BORTEZOMIB D-MANNITOLApproved
26S proteasome inhibitor
Mantle cell lymphoma
CARFILZOMIBApproved
26S proteasome inhibitor
multiple myeloma
IXAZOMIBApproved
26S proteasome inhibitor
multiple myeloma
IXAZOMIB CITRATEApproved
26S proteasome inhibitor
multiple myeloma
OPROZOMIBPhase II
26S proteasome inhibitor
Hodgkins lymphoma
Related Genes
CSF3Protein interaction100%PSMA1Protein interaction100%PSMA2Protein interaction100%PSMA3Protein interaction100%PSMA4Protein interaction100%PSMA5Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
88%
Lung
88%
Liver
87%
Heart
85%
Ovary
64%
Gene Interaction Network
Click a node to explore
PSMD11CSF3PSMA1PSMA2PSMA3PSMA4PSMA5
PROTEIN STRUCTURE
Preparing viewer…
PDB8USB · 2.73 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.08Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.02 [0.01–0.08]
RankingsWhere PSMD11 stands among ~20K protein-coding genes
  • #1,388of 20,598
    Most Researched268 · top 10%
  • #384of 1,025
    FDA-Approved Drug Targets4
  • #3,917of 5,498
    Most Pathogenic Variants3
  • #23of 17,882
    Most Constrained (LOEUF)0.08 · top 1%
Genes detectedPSMD11
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
PMID: 38866022
Am J Hum Genet · 2024
1.00
2
PSMD11 promotes the proliferation of hepatocellular carcinoma by regulating the ubiquitination degradation of CDK4.
PMID: 38944255
Cell Signal · 2024
0.90
3
PSMD11 modulates circadian clock function through PER and CRY nuclear translocation.
PMID: 36961772
PLoS One · 2023
0.80
4
Promoting proteostasis by cAMP/PKA and cGMP/PKG.
PMID: 39477759
Trends Mol Med · 2025
0.70
5
Pathological variants in HPV-independent vulvar tumours.
PMID: 39789097
Sci Rep · 2025
0.64