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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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UFSP1
UFM1 specific peptidase 1
Chromosome 7 · 7q22.1
NCBI Gene: 402682Ensembl: ENSG00000176125.7HGNC: HGNC:33821UniProt: A0AAR1ZLH9
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcysteine-type peptidase activitydeUFMylase activityprotein maturationneurodegenerative diseasehair colorhemorrhoidurethral syndrome
✦AI Summary

UFSP1 (UFM1 specific peptidase 1) is a thiol-dependent cysteine protease that catalyzes two essential functions in UFMylation, a ubiquitin-like post-translational modification pathway 1. UFSP1 mediates both maturation of pro-UFM1 precursors through proteolytic cleavage to expose the C-terminal glycine 2, and deconjugation of UFM1 from target proteins 1. Structurally, UFSP1 contains a papain-like catalytic fold with a conserved Cys active site and an atypical Asp-Pro-His catalytic triad 3. A notable discovery revealed that human UFSP1 is translated from a non-canonical CUG start codon via eIF2A-mediated initiation rather than the annotated AUG, explaining its previous mischaracterization as a pseudogene 1. UFSP1 and UFSP2 exhibit distinct substrate specificities: UFSP1 acts earlier in UFMylation pathway maturation and cleaves potential autoinhibitory modifications on UFC1, while UFSP2 specifically removes UFM1 from ribosomal RPL26 2. Cells lacking both UFSPs show complete loss of UFMylation 2. UFMylation regulates diverse cellular processes including endoplasmic reticulum homeostasis and liver protection in metabolic dysfunction 4. Despite enrichment at neuromuscular junctions, UFSP1 knockout mice show normal development without gross phenotypic abnormalities, suggesting redundancy or context-dependent function 5.

Sources cited
1
UFSP1 (UFM1 specific peptidase 1) is a thiol-dependent cysteine protease that catalyzes two essential functions in UFMylation, a ubiquitin-like post-translational modification pathway .
PMID: 35525273
2
UFSP1 mediates both maturation of pro-UFM1 precursors through proteolytic cleavage to expose the C-terminal glycine , and deconjugation of UFM1 from target proteins .
PMID: 35926457
3
Structurally, UFSP1 contains a papain-like catalytic fold with a conserved Cys active site and an atypical Asp-Pro-His catalytic triad .
PMID: 18321862
4
UFMylation regulates diverse cellular processes including endoplasmic reticulum homeostasis and liver protection in metabolic dysfunction .
PMID: 39858578
5
Despite enrichment at neuromuscular junctions, UFSP1 knockout mice show normal development without gross phenotypic abnormalities, suggesting redundancy or context-dependent function .
PMID: 40748989
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.17Weak
hair colorOpen Targets
0.07Suggestive
hemorrhoidOpen Targets
0.06Suggestive
urethral syndromeOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
skin cancerOpen Targets
0.05Suggestive
skin neoplasmOpen Targets
0.04Suggestive
diverticular diseaseOpen Targets
0.04Suggestive
hypothyroidismOpen Targets
0.03Suggestive
myxedemaOpen Targets
0.03Suggestive
lagophthalmosOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.00Suggestive
myelodysplastic syndromeOpen Targets
0.00Suggestive
Congenital myasthenic syndromesOpen Targets
0.00Suggestive
mitochondrial DNA depletion syndrome 4aOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UFL1Protein interaction80%UFC1Protein interaction80%UFM1Protein interaction80%DDRGK1Protein interaction80%UBA5Protein interaction80%ZNG1FShared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
40%
Ovary
35%
Brain
17%
Bone Marrow
17%
Heart
14%
Gene Interaction Network
Click a node to explore
UFSP1UFL1UFC1UFM1DDRGK1UBA5ZNG1F
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6NVU6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.93LoF Tolerant
pLIⓘ
0.06Tolerant
Observed/Expected LoF1.57 [0.47–1.93]
RankingsWhere UFSP1 stands among ~20K protein-coding genes
  • #12,912of 20,598
    Most Researched26
  • #17,462of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedUFSP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human UFSP1 is an active protease that regulates UFM1 maturation and UFMylation.
PMID: 35926457
Cell Rep · 2022
1.00
2
Systematic Analysis of UFMylation Family Genes in Tissues of Mice with Metabolic Dysfunction-Associated Steatotic Liver Disease.
PMID: 39858578
Genes (Basel) · 2024
0.90
3
Human UFSP1 translated from an upstream near-cognate initiation codon functions as an active UFM1-specific protease.
PMID: 35525273
J Biol Chem · 2022
0.80
4
Loss of Ufsp1 does not cause major changes at the neuromuscular junction.
PMID: 40748989
PLoS One · 2025
0.70
5
Nontraditional translation is the key to UFMylation and beyond.
PMID: 36037969
J Biol Chem · 2022
0.60