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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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USPL1
ubiquitin specific peptidase like 1
Chromosome 13 · 13q12.3
NCBI Gene: 10208Ensembl: ENSG00000132952.13HGNC: HGNC:20294UniProt: A8K1B1
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin bindingprotein bindingdeSUMOylase activitySUMO bindingneurodegenerative diseasepreeclampsiaSplenomegalyankylosing spondylitis
✦AI Summary

USPL1 (ubiquitin-specific peptidase-like 1) is a SUMO-specific isopeptidase that catalyzes protein desumoylation with selective affinity for SUMO2 and SUMO3 over SUMO1 1. It also processes full-length SUMO proteins to their mature forms 2. Unlike other deubiquitinating enzymes, USPL1 neither binds nor cleaves ubiquitin 2. Mechanistically, USPL1 functions as a component of Cajal body complexes that directly associate with U snRNA loci 3. It plays a critical role in RNA polymerase II-mediated snRNA transcription by interacting with the Little Elongation Complex; USPL1 knockdown reduces snRNA levels and impairs subsequent snRNP assembly and pre-mRNA splicing 3. Beyond its catalytic function, USPL1 possesses essential non-catalytic roles in Cajal body organization and cell proliferation independent of its enzymatic activity 2. Clinically, genetic variation in USPL1 shows disease relevance: the rs7984952 variant associates with reduced risk of Grade 3 breast tumors, with increased USPL1 expression in tumor tissue correlating with the protective C allele 4. USPL1 is upregulated in heat stress responses 5 and implicated in multiple myeloma pathogenesis through miR-148a-USPL1 regulatory networks 6. As an incompletely characterized deubiquitinating enzyme, USPL1 represents a promising therapeutic target for cancer 7.

Sources cited
1
USPL1 is a SUMO isopeptidase that processes full-length SUMO proteins, colocalizes with coilin in Cajal bodies, and possesses non-catalytic functions in cell proliferation
PMID: 22878415
2
USPL1 plays a key role in RNA polymerase II-mediated snRNA transcription, associates with U snRNA loci, and interacts with the Little Elongation Complex
PMID: 24413172
3
USPL1 demonstrates pronounced selectivity for SUMO2/3 over SUMO1 with a distinct specificity mechanism
PMID: 37712884
4
USPL1 rs7984952 variant associates with reduced Grade 3 breast tumor risk, with increased USPL1 expression correlating with protective C allele
PMID: 23338788
5
USPL1 is identified as a commonly upregulated gene in heat stress response across human and mouse samples
PMID: 37686255
6
USPL1 is an incompletely characterized deubiquitinating enzyme representing an emerging therapeutic target
PMID: 35737447
7
USPL1 is implicated in multiple myeloma pathogenesis through miR-148a regulatory networks
PMID: 28316065
8
USPL1 is a SUMO-specific protease that recognizes SUMO through non-covalent interactions distinct from ubiquitin enzyme interactions
PMID: 41187091
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
preeclampsiaOpen Targets
0.24Weak
SplenomegalyOpen Targets
0.18Weak
ankylosing spondylitisOpen Targets
0.10Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
severe malarial anemiaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
metastatic melanomaOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SUMO2Protein interaction97%DESI2Protein interaction78%COILProtein interaction76%DESI1Protein interaction59%SENP5Protein interaction54%ANKRD45Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
42%
Ovary
37%
Lung
32%
Heart
28%
Brain
23%
Gene Interaction Network
Click a node to explore
USPL1SUMO2DESI2COILDESI1SENP5ANKRD45
PROTEIN STRUCTURE
Preparing viewer…
PDB7P99 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.39–0.75]
RankingsWhere USPL1 stands among ~20K protein-coding genes
  • #12,479of 20,598
    Most Researched28
  • #5,954of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedUSPL1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Non-covalent SUMO interactions with (de)conjugation enzymes.
PMID: 41187091
Essays Biochem · 2025
1.00
2
Meta-Analysis of Heat-Stressed Transcriptomes Using the Public Gene Expression Database from Human and Mouse Samples.
PMID: 37686255
Int J Mol Sci · 2023
0.88
3
Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases.
PMID: 23338788
Int J Cancer · 2013
0.75
4
Integrating multi-omics data reveals function and therapeutic potential of deubiquitinating enzymes.
PMID: 35737447
Elife · 2022
0.63
5
A role for the Cajal-body-associated SUMO isopeptidase USPL1 in snRNA transcription mediated by RNA polymerase II.
PMID: 24413172
J Cell Sci · 2014
0.50