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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM53C
family with sequence similarity 53 member C
Chromosome 5 · 5q31.2
NCBI Gene: 51307Ensembl: ENSG00000120709.12HGNC: HGNC:1336UniProt: Q9NYF3
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein import into nucleusnucleusneurodegenerative diseasebronchial diseaseautism spectrum disorderautism
✦AI Summary

FAM53C is a cytoplasmic anchoring protein that functions as a critical negative regulator of cell cycle progression through direct inhibition of the kinase DYRK1A 1. FAM53C binds to the catalytic domain of DYRK1A, suppressing both its autophosphorylation activity and kinase activity toward substrates like tau protein 2. Mechanistically, FAM53C-DYRK1A interaction induces cytoplasmic relocalization of DYRK1A from the nucleus, preventing DYRK1A-dependent nuclear accumulation of binding partner DCAF7/WDR68 2. At the cellular level, FAM53C acts upstream of the Cyclin D-CDK4/6-RB axis to regulate G1/S cell cycle transition, with FAM53C knockdown causing G1 arrest that is rescued by DYRK1A kinase inhibition 1. FAM53C knockout in human cortical organoids results in increased cell cycle arrest and growth defects, while Fam53C knockout mice exhibit body growth and behavioral abnormalities 1. Given that DYRK1A dysregulation contributes to Down syndrome and neurodevelopmental disorders, FAM53C represents a potential therapeutic target for developmental and oncological diseases 1. Additionally, FAM53C shows inverse expression correlation with obesity-associated miRNAs in blood, suggesting potential roles in metabolic regulation 3.

Sources cited
1
FAM53C regulates G1/S cell cycle transition by inhibiting DYRK1A kinase and acts upstream of Cyclin D-CDK4/6-RB axis; FAM53C knockout causes growth and developmental defects
PMID: 39713326
2
FAM53C binds DYRK1A catalytic domain, suppresses its kinase activity, anchors it to cytoplasm, and prevents nuclear localization of DCAF7/WDR68
PMID: 37802655
3
FAM53C shows inverse expression correlation with obesity-associated miRNAs in blood tissue
PMID: 35266657
4
FAM53C is among poorly characterized DYRK1A-interacting proteins involved in regulatory functions by recruiting DYRK1A to specific cellular compartments
PMID: 37900285
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
bronchial diseaseOpen Targets
0.20Weak
autism spectrum disorderOpen Targets
0.13Weak
autismOpen Targets
0.11Weak
overnutritionOpen Targets
0.09Suggestive
major depressive disorderOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
anorexia nervosaOpen Targets
0.06Suggestive
bipolar disorderOpen Targets
0.06Suggestive
bipolar I disorderOpen Targets
0.06Suggestive
obsessive-compulsive disorderOpen Targets
0.06Suggestive
Tourette syndromeOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
schizophreniaOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
esophageal diseaseOpen Targets
0.05Suggestive
gastroesophageal reflux diseaseOpen Targets
0.04Suggestive
morbid obesityOpen Targets
0.03Suggestive
vascular diseaseOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPN1Shared pathway100%TNPO3Shared pathway100%RANBP6Shared pathway100%GPN3Shared pathway100%SPRNShared pathway100%FAM53AShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
36%
Heart
35%
Brain
32%
Ovary
31%
Liver
19%
Gene Interaction Network
Click a node to explore
FAM53CGPN1TNPO3RANBP6GPN3SPRNFAM53A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NYF3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.17–0.46]
RankingsWhere FAM53C stands among ~20K protein-coding genes
  • #10,778of 20,598
    Most Researched36
  • #2,634of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedFAM53C
Sources retrieved4 papers
Response time—
📄 Sources
4
1
THE FAM53C/DYRK1A axis regulates the G1/S transition of the cell cycle.
PMID: 39713326
bioRxiv · 2024
1.00
2
Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A.
PMID: 37802655
Life Sci Alliance · 2023
0.75
3
Integrative global co-expression analysis identifies key microRNA-target gene networks as key blood biomarkers for obesity.
PMID: 35266657
Minerva Med · 2022
0.50
4
Insights from the protein interaction Universe of the multifunctional "Goldilocks" kinase DYRK1A.
PMID: 37900285
Front Cell Dev Biol · 2023
0.25