UFL1

Chr 6

UFM1 specific ligase 1

Also known as: KIAA0776, Maxer, NLBP, RCAD

Enables UFM1 ligase activity and protein kinase binding activity. Involved in several processes, including positive regulation of reticulophagy; regulation of intracellular signal transduction; and regulation of protein metabolic process. Acts upstream of or within several processes, including positive regulation of cell population proliferation; regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to endoplasmic reticulum stress. Located in cytoplasm; nucleus; and site of double-strand break. Part of protein-containing complex. Is active in endoplasmic reticulum membrane and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
50
Pubs (1 yr)
P/LP submissions
P/LP missense
0.84
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.000
Z-score 2.38
OE 0.61 (0.440.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.19Z-score
OE missense 0.97 (0.901.06)
393 obs / 403.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.440.84)
00.351.4
Missense OE?0.97 (0.901.06)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 26 / 42.8Missense obs/exp: 393 / 403.7Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UFL1 · 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

No active trials found for this gene.

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