USP17L11

Chr 4

ubiquitin specific peptidase 17 like family member 11

The protein functions as a deubiquitinating enzyme that removes ubiquitin from specific proteins to regulate cell proliferation, cell cycle progression, apoptosis, and cellular responses to viral infection. Currently, no established human diseases have been definitively linked to mutations in this gene. The inheritance pattern and clinical significance remain to be determined as this gene lacks well-documented pathogenic variants in clinical databases.

Summary from RefSeq, UniProt
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0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.5869th %ile
GOF
0.6735th %ile
LOF
0.3844th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

USP17L11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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