TOE1: Target of EGR1, Member 1 (Nuclear Exoribonuclease)
A key regulator of RNA processing and telomere maintenance, implicated in pontocerebellar hypoplasia and cancer.
Gene Information Card
| Symbol | TOE1 |
|---|---|
| Full Name | Target of EGR1, Member 1 (Nuclear Exoribonuclease) |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 114034 ncbi.nlm.nih.gov/gene/114034 |
| Ensembl ID | ENSG00000132773 |
| UniProt ID | Q96GM8 |
| OMIM ID | 609279 |
| HGNC ID | 15954 |
| Aliases | hCaf1z, TOE-1, CAF1Z, CGI-88 |
Description
TOE1 encodes a nuclear exoribonuclease that processes small nuclear RNAs (snRNAs) and is involved in telomere maintenance. It is a member of the DEDD family of 3'-5' exonucleases and is required for the maturation of U1, U2, U4, and U5 snRNAs. Mutations in TOE1 cause pontocerebellar hypoplasia type 7 (PCH7), a severe neurodegenerative disorder. The gene is also implicated in cancer through its role in RNA metabolism and telomere regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 7 (PCH7) | Loss-of-function mutations impair snRNA processing, leading to defective RNA splicing and neuronal degeneration. | OMIM #614969; ClinVar |
| Acute myeloid leukemia (AML) | Altered TOE1 expression may disrupt telomere maintenance and RNA processing, contributing to leukemogenesis. | COSMIC; NCBI Gene |
| Breast cancer | Dysregulation of TOE1 expression associated with poor prognosis; potential role in cell proliferation. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 10.8 | Medium |
| Heart | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cells; moderate expression |
| K562 | 9.8 | Leukemia cell line; moderate expression |
| HeLa | 11.2 | Cervical cancer cells; moderate expression |
| SH-SY5Y | 14.1 | Neuroblastoma cells; higher expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.307C>T (p.Arg103*) | Nonsense | Rare | Premature stop; loss of function |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Frameshift; loss of function |
| c.625G>A (p.Gly209Arg) | Missense | Rare | Impaired exonuclease activity; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in PCH7 are loss-of-function, leading to truncated or inactive protein.
Gain of Function (GOF)
Not documented in literature.
Dominant Negative (DN)
Not documented; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA processing (snRNA 3'-end processing)
• Telomere maintenance via telomerase
Protein Summary
TOE1 is a 475-amino acid nuclear protein with a DEDD-type exonuclease domain. It localizes to the nucleolus and nucleoplasm, where it processes the 3' ends of small nuclear RNAs (snRNAs) and participates in telomere maintenance. The protein interacts with the telomerase complex and is essential for proper RNA splicing and genome stability.
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