HERC5

Chr 4

HECT and RLD domain containing E3 ubiquitin protein ligase 5

Also known as: CEB1, CEBP1

NCBI Gene: 51191ENSG00000138646UniProt: Q9UII4OMIM: 608242

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The protein also acts as a modulator of the antiviral immune response. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Aug 2021]

OMIMResearchGenerating clinical summary…
0
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 3.23
OE 0.50 (0.37–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.84Z-score
OE missense 0.89 (0.83–0.97)
444 obs / 497.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.37–0.70)
0≤0.351.4
Missense OE?0.89 (0.83–0.97)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 25 / 49.5Missense obs/exp: 444 / 497.0Syn Z: 0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HERC5 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients