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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSMB1
proteasome 20S subunit beta 1
Chromosome 6 · 6q27
NCBI Gene: 5689Ensembl: ENSG00000008018.10HGNC: HGNC:9537UniProt: A0A140VK45
251PubMed Papers
21Diseases
6Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
proteasome core complexnucleuscytoplasmstructural constituent of proteasomemultiple myelomaneoplasmMantle cell lymphomaHIV infection
✦AI Summary

PSMB1 (proteasome 20S subunit beta 1) is a non-catalytic structural component of the 20S proteasome core complex essential for protein homeostasis. As part of the 26S proteasome, PSMB1 participates in ATP-dependent degradation of ubiquitinated proteins, removing misfolded, damaged, or unnecessary proteins [UniProt]. It also associates with regulatory particles PA200 and PA28 to mediate ubiquitin-independent proteolysis in specialized pathways including spermatogenesis and MHC class I antigen generation [UniProt]. Mechanistically, PSMB1 regulates multiple signaling pathways: it binds and promotes proteasome-dependent degradation of onco-protein RAB34 to inhibit MEK/ERK signaling in colorectal cancer 1, and facilitates IKK-β degradation to suppress RANKL-induced osteoclast differentiation in ankylosing spondylitis 2. PSMB1 also negatively regulates antiviral immunity by promoting IKK-ε degradation, thus inhibiting RIG-I and TLR3 signaling during viral infection 3. Disease relevance includes associations with neurodevelopmental disorder with microcephaly, hypotonia, and absent language [NCBI], and identification as a downstream effector in idiopathic pulmonary fibrosis pathogenesis 4. Clinically, PSMB1 serves as an independent prognostic biomarker for colorectal cancer progression 1, with potential therapeutic implications through proteasome inhibitors or agents enhancing PSMB1 activity.

Sources cited
1
PSMB1 binds and promotes RAB34 degradation to inhibit MEK/ERK signaling and CRC progression; identified as independent predictor of postoperative progression in stage II/III CRC
PMID: 38159835
2
PSMB1 identified as significant downstream effector of BRSK2 in idiopathic pulmonary fibrosis pathogenesis with shared causal variant support
PMID: 39838395
3
PSMB1 variant rs12717 associated with ankylosing spondylitis; regulates RANK/RANKL signaling and osteoclast differentiation through IKK-β degradation
PMID: 36124946
4
PSMB1 negatively regulates innate antiviral immunity by facilitating IKK-ε degradation and inhibiting RIG-I/TLR3 signaling pathways
PMID: 30682859
5
PSMB1 identified as interaction partner of Uroplakin 1a; role in spermatogenesis documented
PMID: 37468792
Disease Associationsⓘ21
multiple myelomaOpen Targets
0.60Moderate
neoplasmOpen Targets
0.51Moderate
Mantle cell lymphomaOpen Targets
0.50Moderate
HIV infectionOpen Targets
0.48Moderate
amyloidosisOpen Targets
0.37Weak
neurodevelopmental disorder with microcephaly, hypotonia, and absent languageOpen Targets
0.36Weak
glioblastoma multiformeOpen Targets
0.26Weak
brain glioblastomaOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.26Weak
lymphomaOpen Targets
0.12Weak
Waldenstrom macroglobulinemiaOpen Targets
0.11Weak
non-Hodgkins lymphomaOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
AL amyloidosisOpen Targets
0.10Suggestive
leukemiaOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.09Suggestive
chronic graft versus host diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageUniProt
Pathogenic Variants1
NM_002793.4(PSMB1):c.307T>C (p.Tyr103His)Pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
☆☆☆☆2022→ Residue 103
View on ClinVar ↗
Drug Targets6
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
MARIZOMIBPhase III
20S proteasome inhibitor
brain glioblastoma
OPROZOMIBPhase II
26S proteasome inhibitor
Hodgkins lymphoma
Related Genes
PSMB3Protein interaction100%PSMB2Protein interaction100%PSMD8Protein interaction100%PSMC6Protein interaction100%POMPProtein interaction100%PSMC1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
87%
Lung
81%
Heart
75%
Bone Marrow
58%
Ovary
58%
Gene Interaction Network
Click a node to explore
PSMB1PSMB3PSMB2PSMD8PSMC6POMPPSMC1
PROTEIN STRUCTURE
Preparing viewer…
PDB5LE5 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.26 [0.14–0.55]
RankingsWhere PSMB1 stands among ~20K protein-coding genes
  • #1,531of 20,598
    Most Researched251 · top 10%
  • #387of 1,025
    FDA-Approved Drug Targets4
  • #4,692of 5,498
    Most Pathogenic Variants1
  • #3,518of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedPSMB1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Discovery of Kinetin in inhibiting colorectal cancer progression via enhancing PSMB1-mediated RAB34 degradation.
PMID: 38159835
Cancer Lett · 2024
1.00
2
Genetic variation reveals the therapeutic potential of BRSK2 in idiopathic pulmonary fibrosis.
PMID: 39838395
BMC Med · 2025
0.90
3
An ankylosing spondylitis risk variant alters osteoclast differentiation.
PMID: 36124946
Rheumatology (Oxford) · 2023
0.80
4
Genetics of lipodystrophy syndromes.
PMID: 34562561
Presse Med · 2021
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
0.64