NEURL1

Chr 10

neuralized E3 ubiquitin protein ligase 1

Also known as: NEUR1, NEURL, RNF67, bA416N2.1, neu, neu-1

NCBI Gene: 9148ENSG00000107954UniProt: O76050OMIM: 603804

Predicted to enable translation regulator activity and ubiquitin protein ligase activity. Involved in negative regulation of Notch signaling pathway; negative regulation of cell population proliferation; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.011
Z-score 2.32
OE 0.37 (0.20–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.54Z-score
OE missense 0.61 (0.55–0.69)
211 obs / 343.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.37 (0.20–0.74)
0≤0.351.4
Missense OE?0.61 (0.55–0.69)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 6 / 16.0Missense obs/exp: 211 / 343.7Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEURL1 · 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