TOE1 target of EGR1, exonuclease [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOE1provided by HGNC
Official Full Name: target of EGR1, exonucleaseprovided by HGNC
Primary source: HGNC:HGNC:15954
See related: Ensembl:ENSG00000132773 MIM:613931; AllianceGenome:HGNC:15954
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCH7; TOE-1; hCaf1z
Summary: Enables poly(A)-specific ribonuclease activity and snRNA binding activity. Involved in RNA phosphodiester bond hydrolysis, exonucleolytic and snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 7.9), bone marrow (RPKM 5.3) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p34.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (45340170..45343973)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (45211720..45215530)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (45805842..45809645)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7.
Title: Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7.
Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.
Title: Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.
PARN and TOE1 do not modulate the length of mRNA poly(A) tails. Rather, they promote the maturation of nuclear small non-coding RNAs (ncRNAs). PARN and TOE1 act redundantly on some ncRNAs, most prominently small Cajal body-specific RNAs (scaRNAs).
Title: PARN and TOE1 Constitute a 3' End Maturation Module for Nuclear Non-coding RNAs.
Our study highlights a mechanistic link between TOE1 mutation, improper hTR processing and telomere dysfunction in diseases such as Pontocerebella Hypoplasia Type 7 .
Title: TOE1 acts as a 3' exonuclease for telomerase RNA and regulates telomere maintenance.
Human cells with reduced levels of TOE1 accumulated 3'-end-extended pre-snRNA.
Title: Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Antiviral potency of TOE1 and its cell-penetrating capability have been identified to lie within a 35-amino-acid region containing the nuclear localization sequence
Title: TOE1 is an inhibitor of HIV-1 replication with cell-penetrating capability.
TOE1 has a role in the growth inhibitory activity of Egr1
Title: In vivo cloning and characterization of a new growth suppressor protein TOE1 as a direct target gene of Egr1.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pontocerebellar hypoplasia type 7 MedGen: C3554226 OMIM: 614969 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, target of EGR1 member 1 (TOE1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with TOE1 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH68652 (e-PCR)
- UniSTS:63757

SGC31961 (e-PCR)
- UniSTS:99859

TESK2 (e-PCR)
- UniSTS:266341

RH18295 (e-PCR)
- UniSTS:68777

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5'-RNA exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3'-5'-RNA exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables poly(A)-specific ribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables snRNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in snRNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA 3'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Cajal body	IBA Inferred from Biological aspect of Ancestor more info
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

Go to the top of the page Help

Preferred Names: target of EGR1 protein 1

Names: target of EGR1, member 1 (nuclear)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_025077.4 → NP_079353.3 target of EGR1 protein 1

See identical proteins and their annotated locations for NP_079353.3

Status: VALIDATED

Source sequence(s)

AY169960, BC009364, DA887065

Consensus CDS

CCDS521.1

UniProtKB/Swiss-Prot

B4DEM6, Q6IA35, Q8IWN5, Q96GM8, Q9H846

Related

ENSP00000361162.5, ENST00000372090.6

Conserved Domains (2) summary

pfam00642
Location:297 → 320

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

pfam04857
Location:41 → 257

CAF1; CAF1 family ribonuclease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

45340170..45343973

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270413.6 → XP_005270470.1 target of EGR1 protein 1 isoform X2

Related

ENST00000495703.5

Conserved Domains (2) summary

pfam00642
Location:251 → 274

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

pfam04857
Location:2 → 211

CAF1; CAF1 family ribonuclease
XM_005270412.5 → XP_005270469.1 target of EGR1 protein 1 isoform X1

Conserved Domains (2) summary

pfam00642
Location:303 → 326

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

pfam04857
Location:47 → 263

CAF1; CAF1 family ribonuclease
XM_047443512.1 → XP_047299468.1 target of EGR1 protein 1 isoform X5

Related

ENST00000471337.5
XM_047443500.1 → XP_047299456.1 target of EGR1 protein 1 isoform X3
XM_047443504.1 → XP_047299460.1 target of EGR1 protein 1 isoform X4

UniProtKB/TrEMBL

B4DP23

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

45211720..45215530

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334064.1 → XP_054190039.1 target of EGR1 protein 1 isoform X1
XM_054334068.1 → XP_054190043.1 target of EGR1 protein 1 isoform X5
XM_054334066.1 → XP_054190041.1 target of EGR1 protein 1 isoform X3
XM_054334067.1 → XP_054190042.1 target of EGR1 protein 1 isoform X4

UniProtKB/TrEMBL

B4DP23
XM_054334065.1 → XP_054190040.1 target of EGR1 protein 1 isoform X2