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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UFC1
ubiquitin-fold modifier conjugating enzyme 1
Chromosome 1 Β· 1q23.3
NCBI Gene: 51506Ensembl: ENSG00000143222.13HGNC: HGNC:26941UniProt: Q9Y3C8
62PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein K69-linked ufmylationprotein bindingextracellular exosomeUFM1 conjugating enzyme activityneurodevelopmental disorder with spasticity and poor growthmicrocephalyneurodegenerative diseasenon-small cell lung carcinoma
✦AI Summary

UFC1 (ubiquitin-fold modifier conjugating enzyme 1) is an E2-like enzyme that catalyzes the second step of ufmylation, a ubiquitin-like post-translational modification pathway 1. UFC1 accepts the ubiquitin-like modifier UFM1 from the E1 enzyme UBA5 and forms a thioester intermediate with UFM1 via its catalytic cysteine residue (Cys116) 1. The ufmylation pathway, comprising UBA5 (E1), UFC1 (E2), UFL1 (E3), and UFM1, regulates diverse cellular processes including autophagy initiation, DNA damage response, interferon signaling, and mitotic spindle organization 234. Recent studies demonstrate that UFMylation facilitates VCP/p97-mediated autophagy by stabilizing BECN1 and promoting phosphatidylinositol-3-kinase complex assembly 2. Additionally, UFMylation promotes orthoflavivirus infectious particle production by regulating viral assembly mechanisms 4. Deficiency in UFMylation machinery components causes embryonic lethality in mice and human disease 5. UFC1 mutations have been genetically linked to neurodevelopmental disorders including microcephaly and neurodevelopmental disorder with spasticity and poor growth 36. The structural and catalytic mechanisms of UFC1 are conserved across metazoans, making it a critical component of cellular homeostasis 1.

Sources cited
1
UFC1 is an E2-like enzyme with catalytic core domain; active site Cys116 forms thioester bond with UFM1
PMID: 19101823
2
UFMylation facilitates autophagy initiation by stabilizing BECN1 and promoting PtdIns3K complex assembly
PMID: 38762759
3
UFC1 mutations linked to microcephaly; UFMylation regulates Eg5 during mitotic spindle organization
PMID: 39085203
4
UFMylation machinery components (UBA5, UFC1, UFL1) promote orthoflavivirus infectious particle production
PMID: 40459261
5
Deficiency in UFMylation pathway leads to embryonic lethality in mice and tissue-specific pathology
PMID: 34148841
6
UFC1 mutations associated with neurodevelopmental disorder with spasticity and poor growth
PMID: 30237576
Disease Associationsβ“˜21
neurodevelopmental disorder with spasticity and poor growthOpen Targets
0.72Strong
microcephalyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
non-small cell lung carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
immunodeficiency 88Open Targets
0.06Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.06Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.06Suggestive
chronic myeloproliferative disorderOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.04Suggestive
ichthyosis prematurity syndromeOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
nonimmune chronic idiopathic neutropenia of adultsOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.04Suggestive
acute myelomonocytic leukemiaOpen Targets
0.03Suggestive
Neurodevelopmental disorder with spasticity and poor growthUniProt
Pathogenic Variants6
NM_016406.4(UFC1):c.192-6T>CLikely pathogenic
Neurodevelopmental disorder with spasticity and poor growth
β˜…β˜†β˜†β˜†2025
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile)Likely pathogenic
Neurodevelopmental disorder with spasticity and poor growth
β˜…β˜†β˜†β˜†2024β†’ Residue 106
NM_016406.4(UFC1):c.255+17G>ALikely pathogenic
Neurodevelopmental disorder with spasticity and poor growth
β˜…β˜†β˜†β˜†2023
NM_016406.4(UFC1):c.244_255delATCGAGTTTGAC (p.79EFDI[1])Pathogenic
Neurodevelopmental disorder with spasticity and poor growth
β˜…β˜†β˜†β˜†2023
NM_016406.4(UFC1):c.135CAA[1] (p.Asn46del)Pathogenic
Neurodevelopmental disorder with spasticity and poor growth
β˜…β˜†β˜†β˜†2022β†’ Residue 46
NM_016406.4(UFC1):c.68G>A (p.Arg23Gln)Pathogenic
Neurodevelopmental disorder with spasticity and poor growth
β˜†β˜†β˜†β˜†2018β†’ Residue 23
View on ClinVar β†—
Related Genes
ELAVL1Protein interaction99%UBE2MProtein interaction87%UFSP2Protein interaction86%UFSP1Protein interaction80%UFM1Protein interaction71%UBA5Protein interaction69%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
95%
Heart
92%
Brain
82%
Lung
77%
Liver
64%
Gene Interaction Network
Click a node to explore
UFC1ELAVL1UBE2MUFSP2UFSP1UFM1UBA5
PROTEIN STRUCTURE
Preparing viewer…
PDB9GLH Β· 1.11 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.52–1.05]
RankingsWhere UFC1 stands among ~20K protein-coding genes
  • #7,520of 20,598
    Most Researched62
  • #3,380of 5,498
    Most Pathogenic Variants6
  • #10,446of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedUFC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
PMID: 38762759
Autophagy Β· 2024
1.00
2
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
0.90
3
Ufl1 deficiency causes kidney atrophy associated with disruption of endoplasmic reticulum homeostasis.
PMID: 34148841
J Genet Genomics Β· 2021
0.80
4
Characterization, crystallization and preliminary X-ray crystallographic analysis of the human Uba5 C-terminus-Ufc1 complex.
PMID: 25084390
Acta Crystallogr F Struct Biol Commun Β· 2014
0.70
5
UFMylation promotes orthoflavivirus infectious particle production.
PMID: 40459261
J Virol Β· 2025
0.60