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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TTC3
tetratricopeptide repeat domain 3
Chromosome 21 · 21q22.13
NCBI Gene: 7267Ensembl: ENSG00000182670.14HGNC: HGNC:12393UniProt: H7BZ57
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin-protein transferase activityprotein bindingubiquitin-dependent protein catabolic processprotein K48-linked ubiquitinationneurodegenerative diseaseeye colorplacenta praeviatype 2 diabetes mellitus
✦AI Summary

TTC3 (tetratricopeptide repeat domain 3) is an E3 ubiquitin ligase that catalyzes K48-linked polyubiquitin chain formation, primarily functioning in protein quality control and cellular signaling regulation 1. The protein mediates ubiquitination and proteasomal degradation of key signaling molecules, including phosphorylated AKT proteins in the nucleus, establishing a negative feedback mechanism for AKT pathway regulation 1. TTC3 positively regulates TGF-β1-induced epithelial-mesenchymal transition by targeting SMURF2 for ubiquitination and degradation 2. Located within the Down syndrome critical region on chromosome 21, TTC3 overexpression contributes to cognitive impairment through disrupted protein quality control mechanisms 1. The protein exhibits cytotoxic effects when overexpressed, forming nuclear aggregates through proteolytic cleavage, with N-terminal fragments being particularly potent inhibitors of cell proliferation 3. In cancer contexts, TTC3 serves as a diagnostic biomarker, with elevated expression detected in prostate cancer tissues and urine samples from cancer patients 4. The protein's role extends to metabolic regulation and inflammatory responses, as evidenced by its identification as a potential biomarker in gestational diabetes mellitus 5. TTC3's multifaceted functions in ubiquitin-mediated protein degradation make it clinically relevant for neurodegenerative diseases, cancer diagnosis, and metabolic disorders.

Sources cited
1
TTC3 is an E3 ubiquitin ligase involved in protein quality control and cognitive impairment mechanisms
PMID: 33638766
2
TTC3 regulates epithelial-mesenchymal transition by targeting SMURF2 for degradation
PMID: 32526690
3
Overexpressed TTC3 forms nuclear aggregates, undergoes proteolytic cleavage, and inhibits cell proliferation
PMID: 30203323
4
TTC3 serves as a diagnostic biomarker in prostate cancer detection
PMID: 40903311
5
TTC3 is identified as a potential diagnostic biomarker in gestational diabetes mellitus
PMID: 40476676
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
eye colorOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.21Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
corticobasal syndromeOpen Targets
0.12Weak
gastric cancerOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
syphilisOpen Targets
0.03Suggestive
Cognitive impairmentOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
Dravet syndromeOpen Targets
0.02Suggestive
myocardial infarctionOpen Targets
0.02Suggestive
Down syndromeOpen Targets
0.02Suggestive
bacteriemiaOpen Targets
0.02Suggestive
pulmonary fibrosisOpen Targets
0.01Suggestive
cognitive disorderOpen Targets
0.01Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.01Suggestive
congenital heart diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DHRS2Protein interaction87%UBE3CShared pathway50%UBE2R2Shared pathway50%UBE2HShared pathway50%RNF148Shared pathway50%RNF149Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
81%
Ovary
79%
Heart
61%
Liver
51%
Lung
33%
Gene Interaction Network
Click a node to explore
TTC3DHRS2UBE3CUBE2R2UBE2HRNF148RNF149
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P53804
View on AlphaFold ↗
RankingsWhere TTC3 stands among ~20K protein-coding genes
  • #8,150of 20,598
    Most Researched56
Genes detectedTTC3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
E3 ligase RNF167 and deubiquitinase STAMBPL1 modulate mTOR and cancer progression.
PMID: 35114100
Mol Cell · 2022
1.00
2
Curcumin blunts epithelial-mesenchymal transition of hepatocytes to alleviate hepatic fibrosis through regulating oxidative stress and autophagy.
PMID: 32526690
Redox Biol · 2020
0.90
3
TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.
PMID: 33638766
Cell Mol Neurobiol · 2022
0.80
4
RNF167 activates mTORC1 and promotes tumorigenesis by targeting CASTOR1 for ubiquitination and degradation.
PMID: 33594058
Nat Commun · 2021
0.70
5
A sensitive and specific non-invasive urine biomarker panel for prostate cancer detection.
PMID: 40903311
EBioMedicine · 2025
0.60