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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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UFM1
ubiquitin fold modifier 1
Chromosome 13 Β· 13q13.3
NCBI Gene: 51569Ensembl: ENSG00000120686.13HGNC: HGNC:20597UniProt: P61960
88PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to endoplasmic reticulum stressprotein bindingbrain developmentregulation of intracellular estrogen receptor signaling pathwayHypomyelination with atrophy of basal ganglia and cerebellumneurodegenerative diseasemicrocephalylysosomal storage disease
✦AI Summary

UFM1 (ubiquitin fold modifier 1) is a ubiquitin-like protein that undergoes covalent attachment to lysine residues on substrate proteins through a dedicated enzymatic cascade 1. The ufmylation process requires three key enzymes: the E1 activating enzyme UBA5, the E2 conjugating enzyme UFC1, and the E3 ligase UFL1 1. UFM1 regulates multiple cellular processes, primarily at the endoplasmic reticulum (ER), where it functions in ribosome-associated quality control and reticulophagy (ER-phagy) induced by ER stress 21. UFMylation also stabilizes the tumor suppressor p53 by antagonizing its ubiquitination and proteasome-mediated degradation, with the UFL1 ligase competing with MDM2 for p53 binding 3. Additionally, UFMylation regulates VCP/p97 to stabilize BECN1, facilitating autophagy initiation 4, and modulates SLC7A11 stability to regulate ferroptosis in cancer cells 5. Dysregulation of the UFM1 system has significant clinical implications: mutations in UFMylation pathway genes cause hereditary developmental epileptic encephalopathy and Schotat-type osteochondrodysplasia 6, while reduced UFL1 and DDRGK1 expression correlates with decreased p53 levels in renal cell carcinomas, suggesting therapeutic potential 3.

Sources cited
1
UFM1 is a ubiquitin-like modifier conjugated via E1 (UBA5), E2 (UFC1), and E3 (UFL1) enzymes; involved in ribosome recycling, DNA damage response, and reticulophagy
PMID: 36680403
2
UFMylation stabilizes p53 by antagonizing its ubiquitination; UFL1 and DDRGK1 are downregulated in renal cell carcinomas
PMID: 32807901
3
ER-localized UFMylation by UFL1 is required for ER-phagy; UFMylates RPN1 and RPL26 to target ER sheets for degradation
PMID: 32160526
4
VCP/p97 UFMylation stabilizes BECN1 through ATXN3-mediated deubiquitination and facilitates autophagy initiation
PMID: 38762759
5
UFMylation regulates SLC7A11 protein stability; metformin induces ferroptosis by inhibiting SLC7A11 UFMylation in breast cancer
PMID: 34162423
6
Mutations in UFM1 system genes cause hereditary developmental epileptic encephalopathy and Schohat-type osteochondrodysplasia; essential for hematopoiesis, liver development, and neurogenesis
PMID: 38141606
Disease Associationsβ“˜21
Hypomyelination with atrophy of basal ganglia and cerebellumOpen Targets
0.75Strong
neurodegenerative diseaseOpen Targets
0.55Moderate
microcephalyOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.31Weak
schizophreniaOpen Targets
0.30Weak
familial long QT syndromeOpen Targets
0.26Weak
Romano-Ward syndromeOpen Targets
0.26Weak
glomerulonephritisOpen Targets
0.20Weak
tooth diseaseOpen Targets
0.19Weak
muscular diseaseOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
multiple sclerosisOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
aortic diseaseOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
head and neck squamous cell carcinomaOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
Leukodystrophy, hypomyelinating, 14UniProt
Pathogenic Variants4
NM_016617.4(UFM1):c.241C>T (p.Arg81Cys)Likely pathogenic
Leukodystrophy, hypomyelinating, 14|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_001286704.2(UFM1):c.-273_-271delPathogenic
Leukodystrophy, hypomyelinating, 14|not provided
β˜…β˜…β˜†β˜†2024
NM_016617.4(UFM1):c.1A>G (p.Met1Val)Likely pathogenic
Leukodystrophy, hypomyelinating, 14
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_016617.4(UFM1):c.2+1G>ALikely pathogenic
Congenital long QT syndrome
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
UFSP1Protein interaction80%UBE2MProtein interaction79%UBA3Protein interaction78%UBA5Protein interaction78%UFSP2Protein interaction77%MOCS3Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
40%
Liver
38%
Heart
36%
Brain
34%
Lung
31%
Gene Interaction Network
Click a node to explore
UFM1UFSP1UBE2MUBA3UBA5UFSP2MOCS3
PROTEIN STRUCTURE
Preparing viewer…
PDB7W3N Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.62Intermediate
Observed/Expected LoF0.27 [0.11–0.85]
RankingsWhere UFM1 stands among ~20K protein-coding genes
  • #5,452of 20,598
    Most Researched88
  • #3,757of 5,498
    Most Pathogenic Variants4
  • #7,373of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedUFM1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A guide to UFMylation, an emerging posttranslational modification.
PMID: 36680403
FEBS J Β· 2023
1.00
2
UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination.
PMID: 32807901
Nat Cell Biol Β· 2020
0.90
3
Ubiquitin-like Protein Conjugation: Structures, Chemistry, and Mechanism.
PMID: 28234446
Chem Rev Β· 2018
0.80
4
Metformin induces Ferroptosis by inhibiting UFMylation of SLC7A11 in breast cancer.
PMID: 34162423
J Exp Clin Cancer Res Β· 2021
0.70
5
The UFM1 system: Working principles, cellular functions, and pathophysiology.
PMID: 38141606
Mol Cell Β· 2024
0.60