UBQLN1
Chr 9ubiquilin 1
Also known as: DA41, DSK2, PLIC-1, UBQN, XDRP1
The protein mediates proteasomal targeting of misfolded proteins for degradation by binding to polyubiquitin chains and interacting with proteasome subunits, and regulates macroautophagy, endoplasmic reticulum-associated protein degradation, and autophagosome formation. Loss-of-function mutations in UBQLN1 cause autosomal dominant spastic paraplegia and frontotemporal dementia through impaired protein degradation pathways. The gene is highly intolerant to loss-of-function variation, supporting haploinsufficiency as the disease mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBQLN1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools