HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZNRF1
zinc and ring finger 1
Chromosome 16 · 16q23.1
NCBI Gene: 84937Ensembl: ENSG00000186187.13HGNC: HGNC:18452UniProt: Q8ND25
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmendosomemembranecytosolhypothyroidismankylosing spondylitisAbnormality of limbsNon-Neoplastic Bile Duct Disorder
✦AI Summary

ZNRF1 (zinc and ring finger 1) is an E3 ubiquitin ligase that regulates multiple cellular processes through targeted protein degradation. The protein plays critical roles in neuronal function and differentiation by mediating ubiquitination of key substrates. In peripheral nervous system development, ZNRF1 controls Schwann cell differentiation by targeting glutamine synthetase (GS) for proteasomal degradation, which increases glutamate levels and promotes undifferentiated Schwann cell phenotypes 12. In mature neurons, ZNRF1 promotes neurodegeneration by mediating Lys-48-linked polyubiquitination of AKT1, leading to GSK3B activation and subsequent axonal microtubule destabilization 3. ZNRF1 also regulates membrane protein trafficking by ubiquitinating the Na+/K+ ATPase α1 subunit, influencing its endocytosis and degradation 4. Additionally, ZNRF1 modulates inflammatory responses through caveolin-1 (CAV1) ubiquitination, though this function can be disrupted in disease contexts - in glioblastoma, TRAF4 prevents ZNRF1-mediated CAV1 degradation, contributing to cancer stemness and drug resistance 5. The protein's dysfunction is implicated in neurodevelopmental disorders, highlighting its importance in maintaining proper neuronal homeostasis 6. Recent studies also suggest ZNRF1's involvement in renal protection through interactions with mitochondrial factors 7.

Sources cited
1
ZNRF1 targets glutamine synthetase for degradation in Schwann cells, promoting undifferentiated phenotype
PMID: 20107048
2
ZNRF1-mediated glutamine synthetase degradation increases glutamate levels to regulate Schwann cell differentiation
PMID: 31760635
3
ZNRF1 promotes neurodegeneration through AKT1 ubiquitination and GSK3B activation
PMID: 30118738
4
ZNRF1 regulates Na+/K+ ATPase through ubiquitination of the α1 subunit
PMID: 22797923
5
TRAF4 prevents ZNRF1-mediated caveolin-1 ubiquitination in glioblastoma
PMID: 35895752
6
ZNRF1 dysfunction contributes to neurodevelopmental and psychiatric disorders
PMID: 40233431
7
ZNRF1 interacts with mitochondrial factors in renal protection pathways
PMID: 39349116
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.34Weak
ankylosing spondylitisOpen Targets
0.28Weak
Abnormality of limbsOpen Targets
0.27Weak
Non-Neoplastic Bile Duct DisorderOpen Targets
0.08Suggestive
flatfootOpen Targets
0.04Suggestive
myeloid leukemiaOpen Targets
0.04Suggestive
head and neck squamous cell carcinomaOpen Targets
0.04Suggestive
chronic laryngitisOpen Targets
0.03Suggestive
hemolytic anemiaOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
acute lymphoblastic leukemiaOpen Targets
0.02Suggestive
diabetic retinopathyOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
endothelial dysfunctionOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBE2NProtein interaction99%UBE2D3Protein interaction75%UBE2D2Protein interaction74%ZNRF2Shared pathway67%TRIM45Shared pathway50%KBTBD7Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
77%
Ovary
71%
Heart
68%
Brain
63%
Bone Marrow
36%
Gene Interaction Network
Click a node to explore
ZNRF1UBE2NUBE2D3UBE2D2ZNRF2TRIM45KBTBD7
PROTEIN STRUCTURE
Preparing viewer…
PDB5YWR · 1.47 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.19 [0.09–0.50]
RankingsWhere ZNRF1 stands among ~20K protein-coding genes
  • #10,269of 20,598
    Most Researched40
  • #2,978of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedZNRF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
circFARP1 enables cancer-associated fibroblasts to promote gemcitabine resistance in pancreatic cancer via the LIF/STAT3 axis.
PMID: 35045883
Mol Cancer · 2022
1.00
2
The essential role of E3 ubiquitin ligases in the pathogenesis of neurodevelopmental and psychiatric disorders: Cul3, Cul4, Ube3a, and ZNRF1.
PMID: 40233431
Biochem Biophys Res Commun · 2025
0.90
3
Myricanol represses renal fibrosis by activating TFAM and ZNRF1 to inhibit tubular epithelial cells ferroptosis.
PMID: 39349116
Eur J Pharmacol · 2024
0.80
4
Regulation of neuronal/axonal degeneration by ZNRF1 ubiquitin ligase.
PMID: 30118738
Neurosci Res · 2019
0.70
5
TRAF4 Maintains Deubiquitination of Caveolin-1 to Drive Glioblastoma Stemness and Temozolomide Resistance.
PMID: 35895752
Cancer Res · 2022
0.60