UBR7
Chr 14ARubiquitin protein ligase E3 component n-recognin 7
Also known as: C14orf130, LICAS
The protein is an E3 ubiquitin ligase that recognizes and targets proteins with destabilizing N-terminal residues for ubiquitination and proteasomal degradation as part of the N-end rule pathway. Biallelic mutations cause Li-Campeau syndrome, an autosomal recessive disorder. The gene shows significant constraint against loss-of-function variants (LOEUF 0.447), indicating intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBR7 · 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