DefinitionThis section has been translated automatically.
The TAX1BP3 gene (TAX1BP3 stands for "Tax1 Binding Protein 3") is a protein-coding gene located on chromosome17p13.2. Alternative splicing results in multiple transcript variants encoding different isoforms.
General informationThis section has been translated automatically.
The encoded protein is a small, highly conserved protein with a single PDZ domain. PDZ domains (PSD-95/Discs large/ZO-1 homologous) promote protein-protein interactions that affect cell signaling, adhesion, protein scaffold formation, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins involved in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin pathway.
The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). B
Furthermore, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization.
It can regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, thereby promoting KCNJ4 internalization. May play a role in the Rho signaling pathway. Ultimately, may play a role in the activation of CDC42 by the viral protein HPV16.
You might also be interested in
Clinical pictureThis section has been translated automatically.
Diseases associated with TAX1BP3 include.
- Nephropathic cystinosis (OMIM: 219800; lysosomal storage disease characterized by abnormal accumulation of cystine in lysosomes).
Note(s)This section has been translated automatically.
The protein was first identified as binding to the tax oncoprotein of T-cell leukemia virus (HTLV1).
LiteratureThis section has been translated automatically.
- Li H et al (2016) Differential long non-coding RNA and mRNA expression in differentiated human glioblastoma stem cells. Mol Med Rep 14:2067-2076.
- Reiss RE et al (1988) Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. New Eng J Med 319: 223-226.
- Topaloglu R (2021) Nephropathic cystinosis: an update on genetic conditioning. Pediatr Nephrol 36:1347-1352.
- Wang H et al. (2010) TIP-1 translocation onto the cell plasma membrane is a molecular biomarker of tumor response to ionizing radiation. PLoS One 5:e12051.
