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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DESI1
desumoylating isopeptidase 1
Chromosome 22 · 22q13.2
NCBI Gene: 27351Ensembl: ENSG00000100418.9HGNC: HGNC:24577UniProt: Q6ICB0
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglong-chain fatty acyl-CoA hydrolase activityimportin-alpha family protein bindingprotein export from nucleusbladder calculusAbruptio Placentaeneurodegenerative diseasenephrolithiasis
✦AI Summary

DESI1 (desumoylating isopeptidase 1) is a protease that removes SUMO conjugates from substrate proteins through isopeptidase activity, representing a distinct class of deSUMOylases separate from SENP family proteases 1. DESI1 deconjugates SUMO1, SUMO2, and SUMO3 from target proteins including ZBTB46, and also exhibits palmitoyl protein thioesterase activity. Additionally, DESI1 collaborates with UBQLN4 in exporting ubiquitinated proteins from nucleus to cytoplasm. Mechanistically, DESI1 regulates cell division by controlling FoxM1 transcriptional activity and spindle assembly checkpoint (SAC) function. DESI1 knockdown accelerates cell cycle progression and increases abnormal chromosome 22 through reduced Aurora B expression at metaphase chr22 2. This deSUMOylation activity is catalytically essential, as catalytically inactive DESI1 cannot rescue these phenotypes. Clinically, DESI1 has dual roles in cancer biology. Both decreased and increased DESI1 expression correlate with poor prognosis in certain cancer types 2. DESI1 knockdown reduces vincristine sensitivity by promoting mitotic slippage, suggesting implications for chemotherapy response. DESI1 also associates with colon adenocarcinoma progression through miR-135b-5p regulation 3, and altered DESI1 expression appears linked to epithelial-mesenchymal transition in lung cancer under hypoxic-reoxygenation stress 4.

Sources cited
1
DESI1 is a SUMO-specific isopeptidase distinct from SENP family proteases that deSUMOylates BZEL and other substrates
PMID: 22370726
2
DESI1 regulates faithful chromosome segregation and spindle assembly checkpoint through FoxM1-dependent Aurora B expression; DESI1 knockdown reduces vincristine sensitivity via mitotic slippage
PMID: 39698932
3
DESI1 is identified as a prognostically significant target gene of hsa-miR-135b-5p in colon adenocarcinoma with differential expression affecting cell proliferation
PMID: 36407085
4
DESI1 expression is altered in non-small cell lung cancer cells exposed to hypoxia-reoxygenation conditions associated with epithelial-mesenchymal transition
PMID: 35932303
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
bladder calculusOpen Targets
0.17Weak
Abruptio PlacentaeOpen Targets
0.15Weak
neurodegenerative diseaseOpen Targets
0.14Weak
nephrolithiasisOpen Targets
0.13Weak
atrial fibrillationOpen Targets
0.10Weak
cancerOpen Targets
0.06Suggestive
asthmaOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
insomniaOpen Targets
0.01Suggestive
migraine disorderOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
tooth and nail syndromeOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
Cognitive impairmentOpen Targets
0.00Suggestive
post-traumatic stress disorderOpen Targets
0.00Suggestive
attention deficit hyperactivity disorderOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Mental deteriorationOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSMA8Protein interaction100%UBQLN4Protein interaction100%UBQLN1Protein interaction100%PSMA1Protein interaction99%PSMA2Protein interaction99%PSMA4Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Heart
59%
Brain
46%
Lung
37%
Ovary
29%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
DESI1PSMA8UBQLN4UBQLN1PSMA1PSMA2PSMA4
PROTEIN STRUCTURE
Preparing viewer…
PDB3EBQ · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.51–1.12]
RankingsWhere DESI1 stands among ~20K protein-coding genes
  • #14,405of 20,598
    Most Researched19
  • #11,512of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedDESI1
Sources retrieved4 papers
Response time—
📄 Sources
4
1
DeSUMOylating isopeptidase 1 participates in the faithful chromosome segregation and vincristine sensitivity.
PMID: 39698932
FASEB J · 2024
1.00
2
Downregulation of hsa-miR-135b-5p Inhibits Cell Proliferation, Migration, and Invasion in Colon Adenocarcinoma.
PMID: 36407085
Genet Res (Camb) · 2022
0.75
3
Modelling reoxygenation effects in non-small cell lung cancer cell lines and showing epithelial-mesenchymal transition.
PMID: 35932303
J Cancer Res Clin Oncol · 2022
0.50
4
DeSUMOylating isopeptidase: a second class of SUMO protease.
PMID: 22370726
EMBO Rep · 2012
0.25