HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PSMC5
proteasome 26S subunit, ATPase 5
Chromosome 17 Β· 17q23.3
NCBI Gene: 5705Ensembl: ENSG00000087191.15HGNC: HGNC:9552UniProt: A0A140VJS3
412PubMed Papers
20Diseases
5Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
thyrotropin-releasing hormone receptor bindingcytoplasmic vesicleextracellular exosomeblood microparticlemultiple myelomaNeurodevelopmental disorderneoplasmMantle cell lymphoma
✦AI Summary

PSMC5 encodes an AAA-ATPase subunit of the 26S proteasome's 19S regulatory particle, serving a critical role in ATP-dependent ubiquitin-proteasome degradation 1. As part of the heterohexameric ring, PSMC5 unfolds ubiquitinated target proteins for translocation into the proteolytic chamber and subsequent degradation, maintaining cellular protein homeostasis 2. This function is essential for numerous cellular processes including cell cycle progression, apoptosis, and DNA damage repair. PSMC5 variants cause neurodevelopmental proteasomopathies (NDD), a distinct category of neurodevelopmental disorders 1. Over 23 unique PSMC5 variants have been identified in syndromic NDD patients, with both overexpression and loss-of-function mutations impairing proteasome activity 13. Loss of PSMC5 function results in protein aggregation, abnormal innate immune signaling, impaired mitochondrial homeostasis, and disrupted lipid metabolism 1. Functionally, PSMC5 variants compromise synaptic balance, neuritogenesis, and learning capacity 3. PSMC5 insufficiency and specific mutations like P320R weaken the association between the 19S regulatory particle and 20S core particle, impairing overall proteasome function and activating apoptosis 2. PSMC5 variants also associate with proteasome-associated autoinflammatory syndromes (PRAAS) 4. Therapeutically, targeting integrated stress response kinases (PKR, GCN2) ameliorates immune dysregulation in affected cells 1, offering potential treatment avenues for neurodevelopmental proteasomopathies.

Sources cited
1
PSMC5 variants cause syndromic neurodevelopmental disorders; loss-of-function leads to protein aggregation, immune dysregulation, mitophagy impairment, and lipid metabolism changes; targeting PKR/GCN2 ameliorates immune dysfunction
PMID: 38293138
2
PSMC5 mutations (P320R, R325W, Q160A, Q69*) impair proteasome function by weakening 19S-20S particle association and activate apoptosis
PMID: 38776958
3
PSMC5 variants (26 distinct) cause neurodevelopmental proteasomopathies through impaired proteasome activity, protein aggregation, mitochondrial dysfunction, and compromised synaptic balance and learning
PMID: 41298377
4
Novel PSMC5 variants identified in proteasome-associated autoinflammatory syndrome (PRAAS) patients, substantially impacting proteasome subunit expression and incorporation into 26S proteasomes
PMID: 37600812
5
PSMC5 interacts with ESRRG protein, as revealed through AlphaFold-Multimer structural prediction and experimental validation of domain-motif interfaces
PMID: 38225382
6
PSMC5 silencing causes G2/M-phase arrest, multiolar spindle formation, and pyroptosis; proteasome inhibition through PSMC5 targeting affects M-phase cell fates
PMID: 38992067
7
PSMC5 is a direct target of PIAS2b SUMOylation during mitotic initiation and is involved in proper mitotic spindle assembly
PMID: 38744818
Disease Associationsβ“˜20
multiple myelomaOpen Targets
0.60Moderate
Neurodevelopmental disorderOpen Targets
0.55Moderate
neoplasmOpen Targets
0.51Moderate
Mantle cell lymphomaOpen Targets
0.50Moderate
HIV infectionOpen Targets
0.48Moderate
Intellectual disabilityOpen Targets
0.37Weak
amyloidosisOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.31Weak
Genu valgumOpen Targets
0.20Weak
Genu varumOpen Targets
0.20Weak
developmental disorder of mental healthOpen Targets
0.18Weak
lymphomaOpen Targets
0.11Weak
Waldenstrom macroglobulinemiaOpen Targets
0.11Weak
non-Hodgkins lymphomaOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Suggestive
AL amyloidosisOpen Targets
0.10Suggestive
leukemiaOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.10Suggestive
chronic graft versus host diseaseOpen Targets
0.09Suggestive
Pathogenic Variants3
NM_002805.6(PSMC5):c.959C>G (p.Pro320Arg)Pathogenic
not provided|Neurodevelopmental disorders|PSMC5-related Neurodevelopmental proteasomopathy|Neurodevelopmental disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 320
NM_002805.6(PSMC5):c.1103T>C (p.Met368Thr)Likely pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 368
NM_002805.6(PSMC5):c.973C>T (p.Arg325Trp)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 325
View on ClinVar β†—
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
PSMA1Protein interaction100%PSMA2Protein interaction100%PSMA3Protein interaction100%PSMA4Protein interaction100%PSMA5Protein interaction100%PSMA6Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
81%
Heart
74%
Lung
67%
Bone Marrow
53%
Ovary
53%
Gene Interaction Network
Click a node to explore
PSMC5PSMA1PSMA2PSMA3PSMA4PSMA5PSMA6
PROTEIN STRUCTURE
Preparing viewer…
PDB3KW6 Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.39Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.39]
RankingsWhere PSMC5 stands among ~20K protein-coding genes
  • #700of 20,598
    Most Researched412 Β· top 5%
  • #366of 1,025
    FDA-Approved Drug Targets4
  • #3,904of 5,498
    Most Pathogenic Variants3
  • #1,872of 17,882
    Most Constrained (LOEUF)0.39 Β· top quartile
Genes detectedPSMC5
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation.
PMID: 38225382
Mol Syst Biol Β· 2024
1.00
2
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene
PMID: 38293138
medRxiv Β· 2024
0.90
3
Single-Nucleotide Variants and Epimutations Induce Proteasome Inhibitor Resistance in Multiple Myeloma.
PMID: 36282272
Clin Cancer Res Β· 2023
0.80
4
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
PMID: 37600812
Front Immunol Β· 2023
0.70
5
PSMC5, a 19S Proteasomal ATPase, Regulates Cocaine Action in the Nucleus Accumbens.
PMID: 25962134
PLoS One Β· 2015
0.64