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

Gene ID: 114034, updated on 27-Nov-2024

Summary

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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 snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 7.9), bone marrow (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

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See TOE1 in Genome Data Viewer
Location:
1p34.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45340170..45343973)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45211720..45215530)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45805842..45809645)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 962 Neighboring gene long intergenic non-protein coding RNA 1144 Neighboring gene Sharpr-MPRA regulatory region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 965 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:45795127-45796061 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45805164-45805831 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45805832-45806500 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45806501-45807167 Neighboring gene mutY DNA glycosylase Neighboring gene 4-hydroxyphenylpyruvate dioxygenase like Neighboring gene uncharacterized LOC124904849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45826137-45826636 Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45856236-45856736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 969 Neighboring gene peptidylprolyl isomerase A pseudogene 36

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. In vivo cloning and characterization of a new growth suppressor protein TOE1 as a direct target gene of Egr1. De Belle I, et al. J Biol Chem, 2003 Apr 18. PMID 12562764
  2. Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7. Guo H, et al. J Matern Fetal Neonatal Med, 2023 Dec. PMID 37635087
  3. TOE1 acts as a 3' exonuclease for telomerase RNA and regulates telomere maintenance. Deng T, et al. Nucleic Acids Res, 2019 Jan 10. PMID 30371886, Free PMC Article
  4. Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7. Wang C, et al. Gene, 2023 Apr 30. PMID 36738896
  5. TOE1 is an inhibitor of HIV-1 replication with cell-penetrating capability. Sperandio S, et al. Proc Natl Acad Sci U S A, 2015 Jun 30. PMID 26056259, Free PMC Article

See all (84) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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

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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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13949

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

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Preferred Names
target of EGR1 protein 1
Names
target of EGR1, member 1 (nuclear)

NCBI Reference Sequences (RefSeq)

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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)

  1. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    45340170..45343973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. XM_047443512.1 → XP_047299468.1  target of EGR1 protein 1 isoform X5

    Related
    ENST00000471337.5

  4. XM_047443500.1 → XP_047299456.1  target of EGR1 protein 1 isoform X3

  5. XM_047443504.1 → XP_047299460.1  target of EGR1 protein 1 isoform X4

    UniProtKB/TrEMBL
    B4DP23

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    45211720..45215530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334064.1 → XP_054190039.1  target of EGR1 protein 1 isoform X1

  2. XM_054334068.1 → XP_054190043.1  target of EGR1 protein 1 isoform X5

  3. XM_054334066.1 → XP_054190041.1  target of EGR1 protein 1 isoform X3

  4. XM_054334067.1 → XP_054190042.1  target of EGR1 protein 1 isoform X4

    UniProtKB/TrEMBL
    B4DP23

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96GM8.1 GenPept UniProtKB/Swiss-Prot:Q96GM8

Gene LinkOut

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