Aliases for TOE1 Gene

Aliases for TOE1 Gene

  • Target Of EGR1, Exonuclease 2 3 5
  • Target Of EGR1, Member 1 (Nuclear) 2 3
  • Target Of EGR1 Protein 1 3 4
  • HCaf1z 2 3
  • PCH7 3
  • TOE1 5

External Ids for TOE1 Gene

Previous GeneCards Identifiers for TOE1 Gene

  • GC00U991071
  • GC01P045235
  • GC01P045218
  • GC01P045474
  • GC01P045577
  • GC01P045805
  • GC01P043916

Summaries for TOE1 Gene

GeneCards Summary for TOE1 Gene

TOE1 (Target Of EGR1, Exonuclease) is a Protein Coding gene. Diseases associated with TOE1 include Pontocerebellar Hypoplasia, Type 7 and Pontocerebellar Hypoplasia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is PNLDC1.

UniProtKB/Swiss-Prot Summary for TOE1 Gene

  • 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).

Gene Wiki entry for TOE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOE1 Gene

Genomics for TOE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOE1

Top Transcription factor binding sites by QIAGEN in the TOE1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • FOXO4
  • HEN1
  • STAT1

Genomic Locations for TOE1 Gene

Genomic Locations for TOE1 Gene
chr1:45,339,751-45,343,973
(GRCh38/hg38)
Size:
4,223 bases
Orientation:
Plus strand
chr1:45,805,342-45,809,650
(GRCh37/hg19)
Size:
4,309 bases
Orientation:
Plus strand

Genomic View for TOE1 Gene

Genes around TOE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOE1 Gene

Proteins for TOE1 Gene

  • Protein details for TOE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GM8-TOE1_HUMAN
    Recommended name:
    Target of EGR1 protein 1
    Protein Accession:
    Q96GM8
    Secondary Accessions:
    • B4DEM6
    • Q6IA35
    • Q8IWN5
    • Q9H846

    Protein attributes for TOE1 Gene

    Size:
    510 amino acids
    Molecular mass:
    56548 Da
    Quaternary structure:
    • Interacts with U1, U2, U4, U5 and U6 snRNAs.

    Three dimensional structures from OCA and Proteopedia for TOE1 Gene

    Alternative splice isoforms for TOE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOE1 Gene

Post-translational modifications for TOE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TOE1 Gene

No data available for DME Specific Peptides for TOE1 Gene

Domains & Families for TOE1 Gene

Gene Families for TOE1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TOE1 Gene

InterPro:
Blocks:
  • Zn-finger, C-x8-C-x5-C-x3-H type
ProtoNet:

Suggested Antigen Peptide Sequences for TOE1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59313, highly similar to Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA (B4DEM6_HUMAN)
  • Target of EGR1 protein 1 (TOE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96GM8

UniProtKB/Swiss-Prot:

TOE1_HUMAN :
  • Belongs to the CAF1 family.
Family:
  • Belongs to the CAF1 family.
genes like me logo Genes that share domains with TOE1: view

Function for TOE1 Gene

Molecular function for TOE1 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for TOE1 Gene

Gene Ontology (GO) - Molecular Function for TOE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3'-5'-exoribonuclease activity IDA 17178830
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0004535 poly(A)-specific ribonuclease activity IDA 17178830
GO:0005515 protein binding IPI 19508870
genes like me logo Genes that share ontologies with TOE1: view
genes like me logo Genes that share phenotypes with TOE1: view

Human Phenotype Ontology for TOE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TOE1 Gene

MGI Knock Outs for TOE1:
  • Toe1 Toe1<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for TOE1

CRISPR Products

miRNA for TOE1 Gene

miRTarBase miRNAs that target TOE1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOE1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TOE1 Gene

Localization for TOE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOE1 Gene

Nucleus, nucleolus. Nucleus speckle. Note=Localizes to nuclear speckles.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOE1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TOE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 17178830
GO:0015030 Cajal body IDA 17178830
genes like me logo Genes that share ontologies with TOE1: view

Pathways & Interactions for TOE1 Gene

PathCards logo

SuperPathways for TOE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TOE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034472 snRNA 3'-end processing IMP 28092684
GO:0090503 RNA phosphodiester bond hydrolysis, exonucleolytic IDA 17178830
genes like me logo Genes that share ontologies with TOE1: view

No data available for Pathways by source and SIGNOR curated interactions for TOE1 Gene

Drugs & Compounds for TOE1 Gene

No Compound Related Data Available

Transcripts for TOE1 Gene

mRNA/cDNA for TOE1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOE1

Alternative Splicing Database (ASD) splice patterns (SP) for TOE1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9 ^ 10
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP5: - -
SP6: - - - - - -
SP7: - - - -
SP8: - - -
SP9:

Relevant External Links for TOE1 Gene

GeneLoc Exon Structure for
TOE1

Expression for TOE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOE1 Gene

Protein differential expression in normal tissues from HIPED for TOE1 Gene

This gene is overexpressed in Breast (38.6) and Lung (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOE1 Gene



Protein tissue co-expression partners for TOE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOE1

SOURCE GeneReport for Unigene cluster for TOE1 Gene:

Hs.525091

mRNA Expression by UniProt/SwissProt for TOE1 Gene:

Q96GM8-TOE1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TOE1 Gene

  • Nervous system(4.8)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with TOE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOE1 Gene

Orthologs for TOE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TOE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TOE1 30 31
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TOE1 30 31
  • 87.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TOE1 30 31
  • 87.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Toe1 30
  • 85.96 (n)
Mouse
(Mus musculus)
Mammalia Toe1 30 17 31
  • 84.38 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
OneToMany
-- 31
  • 57 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia TOE1 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TOE1 30 31
  • 62.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TOE1 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia toe1 30
  • 60.78 (n)
Str.15814 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33924 30
Zebrafish
(Danio rerio)
Actinopterygii toe1 30 31
  • 59.09 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11004 30
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y57A10A.25 30
  • 47.93 (n)
parn-2 31
  • 30 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for TOE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TOE1 Gene

ENSEMBL:
Gene Tree for TOE1 (if available)
TreeFam:
Gene Tree for TOE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TOE1: view image

Paralogs for TOE1 Gene

Paralogs for TOE1 Gene

Pseudogenes.org Pseudogenes for TOE1 Gene

genes like me logo Genes that share paralogs with TOE1: view

Variants for TOE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOE1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
417746 Pathogenic/Likely Pathogenic: Pontocerebellar hypoplasia, type 7 45,342,549(+) G/A MISSENSE_VARIANT
417747 Pathogenic/Likely Pathogenic: Pontocerebellar hypoplasia, type 7 45,342,058(+) T/A MISSENSE_VARIANT
417749 Pathogenic/Likely Pathogenic: Pontocerebellar hypoplasia, type 7 45,342,409(+) T/G MISSENSE_VARIANT
417751 Pathogenic: Pontocerebellar hypoplasia, type 7 45,343,126(+) C/A MISSENSE_VARIANT
645927 Uncertain Significance: MYH-associated polyposis 45,340,229(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for TOE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TOE1 Gene

Variant ID Type Subtype PubMed ID
esv2750837 CNV loss 17911159

Variation tolerance for TOE1 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOE1 Gene

Human Gene Mutation Database (HGMD)
TOE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOE1 Gene

Disorders for TOE1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TOE1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 7
  • pch7
pontocerebellar hypoplasia
  • pch
myh-associated polyposis
  • autosomal recessive familial adenomatous polyposis
peroneal nerve paralysis
  • peroneal nerve palsy
immune system organ benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search TOE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TOE1_HUMAN
  • Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]: A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. {ECO:0000269 PubMed:28092684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with TOE1: view

No data available for Genatlas for TOE1 Gene

Publications for TOE1 Gene

  1. In vivo cloning and characterization of a new growth suppressor protein TOE1 as a direct target gene of Egr1. (PMID: 12562764) De Belle I … Adamson ED (The Journal of biological chemistry 2003) 2 3 4
  2. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. (PMID: 28092684) Lardelli RM … Gleeson JG (Nature genetics 2017) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TOE1 Gene

  • Signalway ELISA kits for TOE1

Sources for TOE1 Gene