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

    Gene ID: 114034, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.9), bone marrow (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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