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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SEM1
SEM1 26S proteasome subunit
Chromosome 7 · 7q21.3
NCBI Gene: 7979Ensembl: ENSG00000127922.10HGNC: HGNC:10845UniProt: A0A087WYU0
85PubMed Papers
20Diseases
5Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Homologous Recombination
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
double-strand break repair via homologous recombinationproteasome complexmultiple myelomacancerneoplasmMantle cell lymphoma
✦AI Summary

SEM1 (26S proteasome subunit) is a multifunctional, intrinsically disordered protein with dual roles in protein degradation and gene expression regulation. As a 26S proteasome component, SEM1 functions in ATP-dependent degradation of ubiquitinated proteins, maintaining protein homeostasis and supporting cell cycle progression, apoptosis, and DNA repair 1. Beyond the proteasome, SEM1 is a core component of the TREX-2 complex, which facilitates mRNA export and chr7 positioning by tethering genes to the nuclear periphery 1. Structurally, SEM1's intrinsic disorder enables it to act as a polyanionic adhesive, preventing nonproductive interactions during assembly of diverse multisubunit complexes including BRCA2-RPA and splicing machinery 1. SEM1 stabilizes the BRCA2 protein and controls R-loop-associated DNA damage, thereby regulating transcription-associated genomic instability 2. Mechanistically, SEM1 maintains proteasome stability and specificity by stabilizing the deubiquitinating enzyme Rpn11 and incorporating the ubiquitin receptor Rpn10 2. Clinically, elevated SEM1 expression correlates with poor glioblastoma prognosis, promoting tumor progression via PI3K-Akt pathway activation 3. Additionally, common variants in the SEM1 locus confer significant risk for coronal craniosynostosis through craniofacial enhancer mechanisms 4. SEM1's pleiotropic effects on cellular differentiation, stress response, and development underscore its importance in both normal physiology and disease pathogenesis.

Sources cited
1
SEM1 is a multifunctional intrinsically disordered protein functioning as a 26S proteasome subunit, BRCA2-RPA complex component, and core TREX-2 complex member involved in mRNA export
PMID: 26944332
2
SEM1 stabilizes Rpn11 deubiquitinating enzyme, incorporates Rpn10 ubiquitin receptor, stabilizes BRCA2, and maintains proteasome assembly and cellular NADH levels during stress
PMID: 29401458
3
High SEM1 expression in glioblastomas correlates with worse prognosis and SEM1 promotes tumor progression via PI3K-Akt pathway activation
PMID: 37652287
4
Common genetic variants in the SEM1 locus on chromosome 7q21.3 confer over 7-fold increased risk of coronal craniosynostosis through a craniofacial enhancer mechanism
PMID: 39345948
5
SEM1 regulates exocyst function and pseudohyphal differentiation in yeast, with functional conservation across eukaryotic species
PMID: 9927667
Disease Associationsⓘ20
multiple myelomaOpen Targets
0.60Moderate
cancerOpen Targets
0.55Moderate
neoplasmOpen Targets
0.52Moderate
Mantle cell lymphomaOpen Targets
0.50Moderate
HIV infectionOpen Targets
0.48Moderate
amyloidosisOpen Targets
0.37Weak
diverticular diseaseOpen Targets
0.36Weak
ShockOpen Targets
0.33Weak
osteoporosisOpen Targets
0.28Weak
bone diseaseOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.24Weak
bone fractureOpen Targets
0.21Weak
androgenetic alopeciaOpen Targets
0.20Weak
obesityOpen Targets
0.19Weak
radius fractureOpen Targets
0.19Weak
circadian rhythmOpen Targets
0.18Weak
facial morphologyOpen Targets
0.18Weak
response to stimulusOpen Targets
0.18Weak
ulna fractureOpen Targets
0.17Weak
Loss of consciousnessOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
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
PSMD1Protein interaction100%PSMD14Protein interaction100%PSMC1Protein interaction100%PSMC6Protein interaction100%PSMD2Protein interaction100%UCHL5Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
79%
Heart
74%
Brain
68%
Bone Marrow
63%
Lung
55%
Gene Interaction Network
Click a node to explore
SEM1PSMD1PSMD14PSMC1PSMC6PSMD2UCHL5
PROTEIN STRUCTURE
Preparing viewer…
PDB3T5X · 2.12 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.77Intermediate
Observed/Expected LoF0.00 [0.00–0.75]
RankingsWhere SEM1 stands among ~20K protein-coding genes
  • #5,636of 20,598
    Most Researched85
  • #422of 1,025
    FDA-Approved Drug Targets4
  • #5,999of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedSEM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DSS1/Sem1, a Multifunctional and Intrinsically Disordered Protein.
PMID: 26944332
Trends Biochem Sci · 2016
1.00
2
Regulatory elements in
PMID: 39345948
Genet Med Open · 2024
0.90
3
SEM1 promotes tumor progression of glioblastoma via activating the akt signaling pathway.
PMID: 37652287
Cancer Lett · 2023
0.80
4
Extent of N-Terminus Folding of Semenogelin 1 Cleavage Product Determines Tendency to Amyloid Formation.
PMID: 37240295
Int J Mol Sci · 2023
0.70
5
Sem1 links proteasome stability and specificity to multicellular development.
PMID: 29401458
PLoS Genet · 2018
0.60