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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
USP17L1
ubiquitin specific peptidase 17 like family member 1
Chromosome 8 Β· 8p23.1
NCBI Gene: 401447Ensembl: ENSG00000230549.3HGNC: HGNC:37182UniProt: Q7RTZ2
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityregulation of protein stabilityregulation of apoptotic processnucleusimmunodeficiency 19combined immunodeficiency with skin granulomasimmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaimmunodeficiency 15a
✦AI Summary

Based on limited published evidence, USP17L1 is a cysteine-type deubiquitinating enzyme that removes conjugated ubiquitin from target proteins. According to UniProt annotations, it regulates cellular processes including cell proliferation, cell cycle progression, apoptosis, cell migration, and viral response through protein stability regulation and apoptotic control. The enzyme localizes to both the cytosol and nucleus. A methylation study identified USP17L1 among genes with differential methylation patterns between primary melanomas and metastatic samples 1, suggesting potential involvement in melanoma metastasis, though this requires further investigation.

Sources cited
1
USP17L1 identified as showing largest methylation differences between primary melanomas with/without metastasis and between primary and metastatic tumors
PMID: 41353171
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
immunodeficiency 19Open Targets
0.04Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.03Suggestive
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.03Suggestive
immunodeficiency 15aOpen Targets
0.03Suggestive
ring chromosome YOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.03Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.03Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.03Suggestive
immunodeficiency 105Open Targets
0.03Suggestive
Alymphoid cystic thymic dysgenesisOpen Targets
0.03Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.03Suggestive
immunodeficiency 112Open Targets
0.03Suggestive
common variable immunodeficiencyOpen Targets
0.03Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.03Suggestive
spermatogenic failure 84Open Targets
0.03Suggestive
spermatogenic failure 93Open Targets
0.03Suggestive
spermatogenic failure 65Open Targets
0.03Suggestive
immunodeficiency 18Open Targets
0.03Suggestive
immunodeficiency 76Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
USP17L15Shared pathway100%USP17L22Shared pathway100%USP17L21Shared pathway100%USP17L20Shared pathway100%USP17L19Shared pathway100%USP17L18Shared pathway100%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
USP17L1USP17L15USP17L22USP17L21USP17L20USP17L19USP17L18
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q7RTZ2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.69 [1.15–1.95]
RankingsWhere USP17L1 stands among ~20K protein-coding genes
  • #13,115of 20,598
    Most Researched25
  • #17,699of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedUSP17L1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Genome-wide methylation profiles of primary and matched distant metastasis: insights from the Dutch Early-Stage melanoma (D-ESMEL) study.
PMID: 41353171
Hum Genomics Β· 2025
1.00