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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TAX1BP3
Tax1 binding protein 3
Chromosome 17 · 17p13.2
NCBI Gene: 30851Ensembl: ENSG00000213977.8HGNC: HGNC:30684UniProt: A0A087X282
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRho protein signal transductionregulation of Cdc42 protein signal transductionnegative regulation of protein localization to cell surfaceocular cystinosisnephropathic cystinosisfamilial dilated cardiomyopathyneoplasm
✦AI Summary

TAX1BP3 (Tax1 binding protein 3) is a PDZ domain-containing protein that regulates multiple cellular processes through protein-protein interactions and nucleocytoplasmic shuttling. The protein undergoes SUMOylation at lysine 116, which is essential for its nuclear localization and shuttling between cellular compartments during phenotypic transitions 1. TAX1BP3 functions as a negative regulator of the YAP-TEAD signaling pathway by competitively binding to YAP through its TEAD binding domain, thereby controlling cell cycle progression and proliferation 1. The protein plays critical roles in cardiovascular development and disease, with mutations causing dilated cardiomyopathy and septo-optic dysplasia through impaired protein structure and stability 2. In arrhythmogenic cardiomyopathy, TAX1BP3 deficiency leads to TRPV4-mediated calcium leak from ryanodine receptors, resulting in delayed afterdepolarizations and increased arrhythmia susceptibility 3. TAX1BP3 also translocates to the plasma membrane following ionizing radiation exposure, serving as a biomarker of tumor radiosensitivity 4. Additionally, the protein has been implicated as a prognostic marker in melanoma immunotherapy response 5 and heart failure pathogenesis 6, highlighting its diverse roles in cellular stress responses and disease progression.

Sources cited
1
TAX1BP3 undergoes SUMOylation at K116 for nuclear localization and regulates YAP-TEAD signaling to control VSMC proliferation
PMID: 40955569
2
Mutations in TAX1BP3 cause dilated cardiomyopathy and septo-optic dysplasia by disrupting protein structure
PMID: 25645515
3
TAX1BP3 deficiency leads to TRPV4-mediated calcium leak and arrhythmias in cardiomyopathy
PMID: 39963794
4
TAX1BP3 translocates to plasma membrane after radiation exposure as a tumor response biomarker
PMID: 20711449
5
TAX1BP3 serves as a prognostic marker in melanoma immunotherapy response
PMID: 38837895
6
TAX1BP3 identified as novel contributor to heart failure pathogenesis
PMID: 40335066
Disease Associationsⓘ20
nephropathic cystinosisOpen Targets
0.18Weak
ocular cystinosisOpen Targets
0.18Weak
familial dilated cardiomyopathyOpen Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
glioblastomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
malignant gliomaOpen Targets
0.04Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
SepsisOpen Targets
0.03Suggestive
familial glucocorticoid deficiencyOpen Targets
0.03Suggestive
metabolic syndromeOpen Targets
0.02Suggestive
rheumatoid arthritisOpen Targets
0.02Suggestive
AutoimmunityOpen Targets
0.02Suggestive
arthritisOpen Targets
0.01Suggestive
strokeOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTNNB1Protein interaction94%GIPC1Protein interaction93%METTL8Protein interaction88%SOCS1Protein interaction79%RHOAProtein interaction77%KCNJ4Protein interaction75%
Tissue Expression6 tissues
Heart
100%
Lung
65%
Ovary
64%
Brain
47%
Liver
23%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
TAX1BP3CTNNB1GIPC1METTL8SOCS1RHOAKCNJ4
PROTEIN STRUCTURE
Preparing viewer…
PDB3SFJ · 1.24 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.59–1.43]
RankingsWhere TAX1BP3 stands among ~20K protein-coding genes
  • #8,504of 20,598
    Most Researched53
  • #14,732of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedTAX1BP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Spatial transcriptional landscape of human heart failure.
PMID: 40335066
Eur Heart J · 2025
1.00
2
TAX1BP3 Is a SUMOylated Nucleocytoplasmic Shuttling Protein and Protects Against Vascular Neointimal Hyperplasia.
PMID: 40955569
Circulation · 2025
0.90
3
PMID: 39963794
Circ Res · 2025
0.80
4
Spatially Informed Gene Signatures for Response to Immunotherapy in Melanoma.
PMID: 38837895
Clin Cancer Res · 2024
0.70
5
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
PMID: 25645515
Hum Mutat · 2015
0.60