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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSMC1
proteasome 26S subunit, ATPase 1
Chromosome 14 · 14q32.11
NCBI Gene: 5700Ensembl: ENSG00000100764.15HGNC: HGNC:9547UniProt: P62191
318PubMed Papers
21Diseases
5Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingnucleusnucleoplasmmultiple myelomaneoplasmMantle cell lymphomaHIV infection
✦AI Summary

PSMC1 encodes a critical ATPase subunit of the 26S proteasome, which is essential for ATP-dependent degradation of ubiquitinated proteins and maintenance of cellular protein homeostasis 1. As part of the heterohexameric AAA-ATPase ring, PSMC1 functions to unfold ubiquitinated target proteins and translocate them into the proteolytic chamber for degradation 1. The protein localizes to multiple cellular compartments including the nucleus, cytosol, and centrosome, where it interacts with other proteasome components and regulatory proteins like TOPORS 2. Disease-causing variants in PSMC1 result in severe neurological phenotypes, including a recently described autosomal recessive syndrome characterized by developmental delay, intellectual disability, spastic tetraplegia, and hearing loss 1. Functional studies demonstrate that pathogenic PSMC1 variants disrupt ATP binding and hydrolysis domains, leading to proteasome dysfunction 1. Mouse studies reveal that complete loss of Psmc1 is lethal, while heterozygous knockout causes cell cycle defects in embryonic fibroblasts but no apparent neuropathology 3. Interestingly, population-based genetic studies found no association between PSMC1 variants and Parkinson's disease susceptibility, despite the protein's role in protein quality control 4. The emerging understanding of PSMC1 dysfunction contributes to the growing class of neurodevelopmental proteasomopathies.

Sources cited
1
PSMC1 encodes an ATPase subunit of 26S proteasome and disease-causing variants cause severe neurological syndrome
PMID: 35861243
2
PSMC1 interacts with TOPORS and localizes to centrosome and other cellular compartments
PMID: 26872363
3
Psmc1 heterozygous knockout causes cell cycle defects in MEFs but no neuropathology in mouse brain
PMID: 22677101
4
No association found between PSMC1 variants and Parkinson's disease susceptibility
PMID: 22948515
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
multiple myelomaOpen Targets
0.60Moderate
neoplasmOpen Targets
0.51Moderate
Mantle cell lymphomaOpen Targets
0.50Moderate
HIV infectionOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing lossOpen Targets
0.41Moderate
amyloidosisOpen Targets
0.37Weak
ovarian dysfunctionOpen Targets
0.31Weak
Genu valgumOpen Targets
0.29Weak
Genu varumOpen Targets
0.29Weak
protein energy malnutritionOpen Targets
0.26Weak
prostate cancerOpen Targets
0.13Weak
metabolic diseaseOpen Targets
0.12Weak
lymphomaOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
Waldenstrom macroglobulinemiaOpen Targets
0.11Weak
non-Hodgkins lymphomaOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
Varicose veinsOpen Targets
0.10Weak
leukemiaOpen Targets
0.10Suggestive
Birk-Aharoni syndromeUniProt
Pathogenic Variants1
NM_002802.3(PSMC1):c.983T>C (p.Ile328Thr)Pathogenic
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
★☆☆☆2025→ Residue 328
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
PSMD7Protein interaction100%PSMD12Protein interaction100%PSMD6Protein interaction100%PSMD4Protein interaction100%CSF3Protein interaction100%PSMA1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
41%
Lung
36%
Bone Marrow
29%
Ovary
23%
Liver
20%
Gene Interaction Network
Click a node to explore
PSMC1PSMD7PSMD12PSMD6PSMD4CSF3PSMA1
PROTEIN STRUCTURE
Preparing viewer…
PDB8USD · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.06–0.26]
RankingsWhere PSMC1 stands among ~20K protein-coding genes
  • #1,055of 20,598
    Most Researched318 · top 10%
  • #375of 1,025
    FDA-Approved Drug Targets4
  • #4,658of 5,498
    Most Pathogenic Variants1
  • #823of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedPSMC1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
PSMC1 Gene in Parkinson's Disease.
PMID: 22948515
Eur Neurol · 2012
1.00
2
PSMC1 variant causes a novel neurological syndrome.
PMID: 35861243
Clin Genet · 2022
0.90
3
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
PMID: 37256937
Sci Transl Med · 2023
0.80
4
TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.
PMID: 26872363
PLoS One · 2016
0.70
5
Diminished expression of the ubiquitin-proteasome system in early treatment-naïve patients with rheumatoid arthritis and concomitant type 2 diabetes may be linked to IL-1 pathway hyper-activity; results from PEAC cohort.
PMID: 39342401
Arthritis Res Ther · 2024
0.68