TBL1X

Chr Xp22.31-p22.2

transducin beta like 1 X-linked

Aliases:: EBI
MANE:: ENST00000645353.2

OMIM: 300196 ↗NCBI: 6907 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TBL1X · O60907

v62025-08-01

Predicted Aligned Error matrix for TBL1X — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.3/ 100

Confident

577 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)18%
Low(50–70)4%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital hypothyroidism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Monogenic hearing loss

Disease associations (Open Targets)

X-linked recessive ocular albinism
0.49
hypothyroidism, congenital, nongoitrous, 8
0.46
nystagmus 6, congenital, X-linked
0.43
viral infectious disease
0.37
GPR143-related foveal hypoplasia
0.34
breast carcinoma
0.31
coronary artery disorder
0.25
refractive error
0.22
Abnormality of refraction
0.22
COVID-19
0.21

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

Protein function (UniProt)

F-box-like/WD repeat-containing protein TBL1X

F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272)