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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UFL1
UFM1 specific ligase 1
Chromosome 6 · 6q16.1
NCBI Gene: 23376Ensembl: ENSG00000014123.11HGNC: HGNC:23039UniProt: O94874
129PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
osteoblast differentiationregulation of proteasomal ubiquitin-dependent protein catabolic processregulation of protein localizationresponse to endoplasmic reticulum stressneurodegenerative diseasehypertensionmigraine disordercoronary artery disease
✦AI Summary

UFL1 (UFM1 specific ligase 1) is an E3 ubiquitin-like ligase that catalyzes ufmylation, the covalent attachment of UFM1 to target proteins 1. This modification regulates multiple critical cellular processes. In ribosome homeostasis, UFL1 mediates mono-ufmylation of RPL26/uL24, promoting recycling of free 60S ribosomal subunits from the endoplasmic reticulum following translation termination or ribosome stalling. During endoplasmic reticulum stress, UFL1-catalyzed ufmylation of proteins like RPN1 and CYB5R3 promotes reticulophagy and protein degradation 2. UFL1 functions in DNA damage responses by localizing to double-strand break sites and ufmylating histone H4 and MRE11 1. Mechanistically, UFL1 stabilizes p53 by ufmylation, antagonizing MDM2-mediated ubiquitination and promoting p53 accumulation 1. In immune regulation, UFL1 negatively controls T-cell activation by ufmylating PD-1, promoting its stability and limiting CD8+ T-cell responses; UFL1 inhibition enhances anti-tumor immunity 3. Clinically, UFL1 dysregulation associates with multiple cancers. Loss of UFL1 expression correlates with reduced p53 levels in renal cell carcinomas 1, while Akt-phosphorylated UFL1 promotes metastasis through ArpC4 ufmylation-mediated lamellipodia formation 4. UFL1 also regulates replication fork stability in BRCA-deficient cells through PTIP ufmylation 5. Tissue-specific UFL1 deletion causes organ atrophy and endoplasmic reticulum stress, indicating essential homeostatic functions 6.

Sources cited
1
UFL1 stabilizes p53 through ufmylation, antagonizing ubiquitination and proteasome degradation; UFL1 downregulation occurs in renal cell carcinomas and correlates with reduced p53 levels
PMID: 32807901
2
UFL1 promotes PD-1 ufmylation to antagonize degradation and suppress T-cell activation; UFL1 ablation in T cells enhances anti-tumor immunity
PMID: 38377992
3
UFL1 mediates ER-phagy through ufmylation of RPN1 and RPL26, promoting ER degradation and suppressing IRE1α-mediated unfolded protein response
PMID: 32160526
4
Akt-phosphorylated UFL1 ufmylates ArpC4 to promote lamellipodia formation, cell migration, and metastasis
PMID: 40419786
5
UFL1 catalyzes PTIP ufmylation at stalled replication forks, promoting MRE11-mediated fork degradation in BRCA1/2-deficient cells
PMID: 38649452
6
UFL1 deficiency causes kidney atrophy and endoplasmic reticulum homeostasis disruption through activation of unfolded protein response and apoptosis
PMID: 34148841
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.56Moderate
hypertensionOpen Targets
0.32Weak
migraine disorderOpen Targets
0.32Weak
coronary artery diseaseOpen Targets
0.30Weak
ovarian dysfunctionOpen Targets
0.27Weak
lysosomal storage diseaseOpen Targets
0.27Weak
Phenotypic abnormalityOpen Targets
0.22Weak
Epiretinal membraneOpen Targets
0.21Weak
liver diseaseOpen Targets
0.21Weak
depressive disorderOpen Targets
0.20Weak
enteritisOpen Targets
0.20Weak
colitisOpen Targets
0.19Weak
corneal degenerationOpen Targets
0.17Weak
gestational diabetesOpen Targets
0.17Weak
essential hypertensionOpen Targets
0.17Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.12Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.12Weak
brain aneurysmOpen Targets
0.12Weak
myocardial infarctionOpen Targets
0.10Weak
coronary atherosclerosisOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UFSP1Protein interaction80%UFM1Protein interaction63%DDRGK1Protein interaction60%UBA5Protein interaction56%CDK5RAP3Protein interaction55%UFC1Protein interaction51%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
73%
Brain
58%
Liver
52%
Ovary
51%
Lung
36%
Gene Interaction Network
Click a node to explore
UFL1UFSP1UFM1DDRGK1UBA5CDK5RAP3UFC1
PROTEIN STRUCTURE
Preparing viewer…
PDB8QFD · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.56–0.90]
RankingsWhere UFL1 stands among ~20K protein-coding genes
  • #3,639of 20,598
    Most Researched129 · top quartile
  • #8,120of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedUFL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination.
PMID: 32807901
Nat Cell Biol · 2020
1.00
2
UFL1 ablation in T cells suppresses PD-1 UFMylation to enhance anti-tumor immunity.
PMID: 38377992
Mol Cell · 2024
0.90
3
VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
PMID: 38762759
Autophagy · 2024
0.80
4
Akt-phosphorylated UFL1 UFMylates ArpC4 to promote metastasis.
PMID: 40419786
Nat Struct Mol Biol · 2025
0.70
5
A Genome-wide ER-phagy Screen Highlights Key Roles of Mitochondrial Metabolism and ER-Resident UFMylation.
PMID: 32160526
Cell · 2020
0.60