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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FZR1
fizzy and cell division cycle 20 related 1
Chromosome 19 Β· 19p13.3
NCBI Gene: 51343Ensembl: ENSG00000105325.16HGNC: HGNC:24824UniProt: Q9UM11
278PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmanaphase-promoting complex-dependent catabolic processnucleusprotein bindingdevelopmental and epileptic encephalopathy 109neurodegenerative diseaseundetermined early-onset epileptic encephalopathygenetic disorder
✦AI Summary

FZR1 (fizzy and cell division cycle 20 related 1) functions as a substrate-specific coactivator of the anaphase-promoting complex/cyclosome (APC/C) E3 ubiquitin ligase. During late mitosis and G1 phase, FZR1 replaces CDC20 to activate APC/C-mediated ubiquitination of cell cycle regulators, preventing premature accumulation of mitotic drivers 1. FZR1 undergoes phosphorylation-dependent regulation: CDK4/6-mediated phosphorylation at the G1/S transition promotes its dissociation from APC/C 2, while mTOR-mediated phosphorylation during cell cycle entry causes partial APC/C inactivation to facilitate glycolytic metabolism 1. Following DNA damage, FZR1 dephosphorylation restores APC/C activity, enabling ubiquitination of PLK1 and enforcement of the G2 checkpoint. FZR1 also targets RBBP8/CtIP for degradation, influencing DNA repair pathway choice toward NHEJ over homologous recombination. Clinically, FZR1 dysregulation associates with multiple malignancies: reduced FZR1 expression sensitizes B-ALL cells to DNA damage and predicts improved initial remission 3, while elevated FZR1 translation (driven by m6A modification) promotes gemcitabine resistance in pancreatic cancer 4. Additionally, FZR1 loss-of-function variants cause developmental and epileptic encephalopathies with childhood-onset seizures and intellectual disability 5. FZR1 also regulates immune checkpoint signaling by controlling SPOP-mediated PD-L1 degradation 6, offering therapeutic combination opportunities with CDK4/6 and PD-1 inhibitors.

Sources cited
1
FZR1 promotes SPOP degradation via APC/C, affecting PD-L1 stability and immune surveillance; CDK4/6 inhibition combined with anti-PD-1 enhances therapeutic efficacy
PMID: 29160310
2
Elevated m6A modification of FZR1 mRNA increases FZR1 translation and promotes gemcitabine resistance in pancreatic cancer by maintaining G0-G1 quiescence
PMID: 37326469
3
FZR1 loss increases DNA damage sensitivity in B-ALL cells and predicts longer initial remission duration, though prolonged inactivation promotes resistant clones
PMID: 28143883
4
CDK4/6-cyclin D phosphorylates FZR1 to inactivate it; simultaneous Rb and FZR1 knockdown bypasses CDK4/6 inhibitor effects
PMID: 25562820
5
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies with childhood-onset seizures, intellectual disability, and sometimes microcephaly
PMID: 34788397
6
mTOR-mediated phosphorylation of FZR1 (CDH1) at the amino terminus causes partial APC/C dissociation during cell cycle entry, transiently promoting glycolysis via PFKFB3 accumulation
PMID: 40739344
Disease Associationsβ“˜21
developmental and epileptic encephalopathy 109Open Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
undetermined early-onset epileptic encephalopathyOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.28Weak
autismOpen Targets
0.12Weak
cerebellar ataxiaOpen Targets
0.12Weak
HypotoniaOpen Targets
0.12Weak
SeizureOpen Targets
0.12Weak
Miyoshi myopathyOpen Targets
0.08Suggestive
Hereditary breast and ovarian cancer syndromeOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
BAP1-related tumor predisposition syndromeOpen Targets
0.04Suggestive
Li-Fraumeni syndromeOpen Targets
0.04Suggestive
hereditary breast ovarian cancer syndromeOpen Targets
0.04Suggestive
hyperplastic polyposis syndromeOpen Targets
0.04Suggestive
tumor predisposition syndrome 2Open Targets
0.04Suggestive
Muir-Torre syndromeOpen Targets
0.04Suggestive
ependymomaOpen Targets
0.03Suggestive
Developmental and epileptic encephalopathy 109UniProt
Pathogenic Variants5
NM_016263.4(FZR1):c.999C>A (p.Asn333Lys)Pathogenic
Developmental and epileptic encephalopathy 109|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 333
NM_016263.4(FZR1):c.946G>C (p.Val316Leu)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 316
NM_016263.4(FZR1):c.560A>G (p.Asp187Gly)Pathogenic
Developmental and epileptic encephalopathy 109
β˜†β˜†β˜†β˜†2023β†’ Residue 187
NM_016263.4(FZR1):c.559G>A (p.Asp187Asn)Pathogenic
Developmental and epileptic encephalopathy 109
β˜†β˜†β˜†β˜†2023β†’ Residue 187
NM_016263.4(FZR1):c.999C>G (p.Asn333Lys)Pathogenic
Developmental and epileptic encephalopathy 109
β˜†β˜†β˜†β˜†2023β†’ Residue 333
View on ClinVar β†—
Related Genes
UBE2SProtein interaction100%CDT1Protein interaction100%BUB1BProtein interaction100%CDC27Protein interaction100%NEK2Protein interaction100%CDC23Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
58%
Ovary
56%
Brain
48%
Lung
39%
Heart
28%
Gene Interaction Network
Click a node to explore
FZR1UBE2SCDT1BUB1BCDC27NEK2CDC23
PROTEIN STRUCTURE
Preparing viewer…
PDB9GAW Β· 2.90 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.34]
RankingsWhere FZR1 stands among ~20K protein-coding genes
  • #1,301of 20,598
    Most Researched278 Β· top 10%
  • #3,473of 5,498
    Most Pathogenic Variants5
  • #1,433of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedFZR1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Human gastric cancer modelling using organoids.
PMID: 29703791
Gut Β· 2019
1.00
2
Cyclin D-CDK4 kinase destabilizes PD-L1 via cullin 3-SPOP to control cancer immune surveillance.
PMID: 29160310
Nature Β· 2018
0.90
3
N 6-methyladenosine Modification of FZR1 mRNA Promotes Gemcitabine Resistance in Pancreatic Cancer.
PMID: 37326469
Cancer Res Β· 2023
0.80
4
FZR1 loss increases sensitivity to DNA damage and consequently promotes murine and human B-cell acute leukemia.
PMID: 28143883
Blood Β· 2017
0.70
5
Methylome-wide association study of anxiety disorders.
PMID: 37542162
Mol Psychiatry Β· 2023
0.64