TOE1

Chr 1p34.1

target of EGR1, exonuclease

Aliases:: hCaf1z, TOE-1
MANE:: ENST00000372090.6

OMIM: 613931 ↗NCBI: 114034 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TOE1 · Q96GM8

v62025-08-01

Predicted Aligned Error matrix for TOE1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.8/ 100

Confident

510 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)11%
Low(50–70)6%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

pontocerebellar hypoplasia type 7
0.82
neurodegenerative disease
0.54
Familial adenomatous polyposis
0.54
mutyh-associated polyposis
0.54
familial adenomatous polyposis 2
0.54
Inherited cancer-predisposing syndrome
0.48
hereditary neoplastic syndrome
0.48
gastric cancer
0.47
pontocerebellar hypoplasia
0.46
hereditary disease
0.34

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

Protein function (UniProt)

Target of EGR1 protein 1

Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing (PubMed:28092684)