UBQLN4

Chr 1

ubiquilin 4

Also known as: A1U, A1Up, C1orf6, CIP75, UBIN

NCBI Gene: 56893ENSG00000160803UniProt: Q9NRR5OMIM: 605440

Enables K48-linked polyubiquitin modification-dependent protein binding activity and identical protein binding activity. Involved in several processes, including negative regulation of autophagosome maturation; negative regulation of double-strand break repair via homologous recombination; and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in several cellular components, including autophagosome; proteasome complex; and site of DNA damage. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAmyotrophic lateral sclerosis

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.30
LOEUF· LoF intol.
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.30LOEUF
pLI 0.983
Z-score 4.13
OE 0.12 (0.05–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.88Z-score
OE missense 0.56 (0.50–0.64)
196 obs / 347.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.12 (0.05–0.30)
0≤0.351.4
Missense OE?0.56 (0.50–0.64)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 3 / 25.6Missense obs/exp: 196 / 347.0Syn Z: 1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UBQLN4 · 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