UAP1L1
Chr 9UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
The protein is predicted to function as a UDP-N-acetylglucosamine diphosphorylase, catalyzing a key step in UDP-N-acetylglucosamine biosynthesis which is essential for protein glycosylation and other cellular processes. Currently, no specific diseases have been definitively associated with UAP1L1 mutations in the medical literature. The gene shows relatively low constraint against loss-of-function variants (pLI ~0, LOEUF 1.074), suggesting it may tolerate some degree of functional variation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
195 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 82 | 0 | 82 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 85 | 8 | 0 | 93 |
Likely Benign | 0 | 3 | 0 | 1 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 3 | |||
| Total | 0 | 88 | 96 | 1 | 188 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UAP1L1 · 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