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Aliases for TOE1 Gene

Aliases for TOE1 Gene

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

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, Member 1 (Nuclear)) is a Protein Coding gene. Diseases associated with TOE1 include Pontocerebellar Hypoplasia, Type 7 and Pontocerebellar Hypoplasia. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot 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

Additional gene information for TOE1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOE1 Gene

Genomics for TOE1 Gene

Regulatory Elements for TOE1 Gene

Enhancers for TOE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H044720 1.7 Ensembl ENCODE dbSUPER 83.9 -616.9 -616867 4 MLX ZFP64 FEZF1 YBX1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D TOE1 GPBP1L1 RPL7AP16 MUTYH HECTD3 RPS8 DMAP1 RPS15AP10 TMEM69 NASP
GH01H044774 1.4 ENCODE dbSUPER 97.3 -563.5 -563452 3 ZFP64 DMAP1 YBX1 YY1 ZNF143 SP3 MCM3 NFYC MEF2D ZNF610 TOE1 GPBP1L1 MUTYH DMAP1 RPS8 NASP RPL7AP16 ZSWIM5 HECTD3 ARTN
GH01H044729 1.4 ENCODE dbSUPER 77.9 -608.3 -608297 2 FEZF1 YBX1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D ZNF610 GLIS1 TOE1 GPBP1L1 RPS8 RPL7AP16 HECTD3 NASP RPS15AP10 TMEM69 MUTYH DMAP1
GH01H044818 1.4 ENCODE dbSUPER 72.2 -519.7 -519693 2 HNRNPUL1 HDGF PKNOX1 ARNT ZFP64 ARID4B YY1 SLC30A9 ZNF766 ZNF143 TOE1 GPBP1L1 MUTYH RPL7AP16 DMAP1 HECTD3 RPS8 NASP KIF2C BEST4
GH01H045684 1.4 ENCODE dbSUPER 70.1 +347.3 347341 5 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D LRRC41 TOE1 GPBP1L1 RPS8 EFCAB14-AS1 MAST2 RPL7AP16 HECTD3 IPP NSUN4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOE1 on UCSC Golden Path with GeneCards custom track

Promoters for TOE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005849 430 1801 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766

Genomic Location for TOE1 Gene

Chromosome:
1
Start:
45,339,670 bp from pter
End:
45,343,978 bp from pter
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):
  • Predicted intracellular proteins

Protein Domains for TOE1 Gene

Suggested Antigen Peptide Sequences for TOE1 Gene

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:0004535 poly(A)-specific ribonuclease activity IDA 17178830
GO:0005515 protein binding IPI 19508870
GO:0017069 snRNA binding IDA 28092684
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 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

Clone Products

  • Applied Biological Materials Clones for TOE1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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

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

Unigene Clusters for TOE1 Gene

Target of EGR1, member 1 (nuclear):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOE1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
TOE1

Expression for TOE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TOE1 Gene



Protein tissue co-expression partners for TOE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TOE1 Gene:

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(4.7)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with TOE1: view

Primer Products

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 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia TOE1 33 34
  • 87.88 (n)
cow
(Bos Taurus)
Mammalia TOE1 33 34
  • 87.65 (n)
rat
(Rattus norvegicus)
Mammalia Toe1 33
  • 85.96 (n)
mouse
(Mus musculus)
Mammalia Toe1 33 16 34
  • 84.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 68 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TOE1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOE1 33 34
  • 62.47 (n)
lizard
(Anolis carolinensis)
Reptilia TOE1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia toe1 33
  • 60.78 (n)
Str.15814 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33924 33
zebrafish
(Danio rerio)
Actinopterygii toe1 33 34
  • 59.09 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11004 33
worm
(Caenorhabditis elegans)
Secernentea CELE_Y57A10A.25 33
  • 47.93 (n)
parn-2 34
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToOne
Species where no ortholog for TOE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TOE1 Gene

Pseudogenes.org Pseudogenes for TOE1 Gene

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

No data available for Paralogs for TOE1 Gene

Variants for TOE1 Gene

Sequence variations from dbSNP and Humsavar for TOE1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs148067486 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] 45,342,058(+) CAACT(A/T)CAACC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs368182654 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] 45,342,847(+) GTGAA(C/T)GGGAA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs371848318 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] 45,341,543(+) GCCTC(A/G)CCTGC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs750266350 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] 45,343,124(+) AGTCT(C/T)ACGAT nc-transcript-variant, reference, missense
rs758153898 Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969] 45,343,126(+) TCTCA(A/C/T)GATAT nc-transcript-variant, reference, synonymous-codon, missense

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)

Relevant External Links for TOE1 Gene

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

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

Disorders for TOE1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TOE1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 7
  • pontocerebellar hypoplasia type 7
pontocerebellar hypoplasia
  • pch
- 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.

Relevant External Links for TOE1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOE1
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 60
  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 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for TOE1 Gene

Sources for TOE1 Gene

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