UBR7

Chr 14

ubiquitin protein ligase E3 component n-recognin 7

Also known as: C14orf130, LICAS

NCBI Gene: 55148 ENSG00000012963 UniProt: Q8N806

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.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLi-Campeau syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.45

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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