TAX1BP3

Chr 17p13.2

Tax1 binding protein 3

Aliases:: TIP-1
MANE:: ENST00000225525.4

OMIM: 616484 ↗NCBI: 30851 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TAX1BP3 · O14907

v62025-08-01

Predicted Aligned Error matrix for TAX1BP3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.3/ 100

Very high

124 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)15%
Low(50–70)7%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Dilated and arrhythmogenic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

ocular cystinosis
0.19
nephropathic cystinosis
0.18
familial dilated cardiomyopathy
0.12
neoplasm
0.09
glioblastoma
0.08
central nervous system cancer
0.08
glioma
0.08
autism
0.08
systemic lupus erythematosus
0.07
maple syrup urine disease
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tax1-binding protein 3

May 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, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6