TOE1 (target of EGR1, exonuclease)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
114034
Gene name Gene Name - the full gene name approved by the HGNC.
Target of EGR1, exonuclease
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TOE1
Synonyms (NCBI Gene) Gene synonyms aliases
PCH7, TOE-1, hCaf1z
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PCH7
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.1
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs368182654 C>T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs750266350 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs758153898 C>A,T Pathogenic, likely-pathogenic Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs778263701 T>C Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs780563835 CA>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT032323 hsa-let-7b-5p Proteomics 18668040
MIRT044528 hsa-miR-320a CLASH 23622248
MIRT2462127 hsa-miR-138 CLIP-seq
MIRT2462128 hsa-miR-142-5p CLIP-seq
MIRT2462129 hsa-miR-4302 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
EGR1 Unknown 19508870
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-exoribonuclease activity IBA 21873635
GO:0000175 Function 3'-5'-exoribonuclease activity IDA 17178830
GO:0003723 Function RNA binding IBA 21873635
GO:0004535 Function Poly(A)-specific ribonuclease activity IDA 17178830
GO:0005515 Function Protein binding IPI 19508870, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613931 15954 ENSG00000132773
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96GM8
Protein name Target of EGR1 protein 1
Protein 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). {ECO:0000269|
PDB 2FC6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04857 CAF1 39 → 172 CAF1 family ribonuclease Family
PF04857 CAF1 166 → 451 CAF1 family ribonuclease Family
PF00642 zf-CCCH 296 → 321 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:28092684}.
Sequence 
MAADSDDGAVSAPAASDGGVSKSTTSGEELVVQVPVVDVQSNNFKEMWPSLLLAIKTANF
VAVDTELSGLGDRKSLLNQCIEERYKAVCHAARTRSILSLGLACFKRQPDKGEHSYLAQV
FNLTLLCMEEYVIEPKSVQFLIQHGFNFNQQYAQGIPYHKGNDKGDESQSQSVRTLFLEL
IRARRPLVLHNGLIDLVFLYQNFYAHLPESLGTFTADLCEMFPAGIYDTKYAAEFHARFV
ASYLEYAFRKCERENGKQRAAGSPHLTLEFCNYPSSMRDHIDYRCCLPPATHRPHPTSIC
DNFSAYGWCPLGPQCPQSHDIDLIIDTDEAAAEDKRRRRRRREKRKRALLNLPGTQTSGE
AKDGPPKKQVCGDSIKPEETEQEVAADETRNLPHSKQGNKNDLEMGIKAARPEIADRATS
EVPGSQASPNPVPGDGLHRAGFDAFMTGYVMAYVEVSQGPQPCSSGPWLPECHNKVYLSG
KAVPLTVAKSQFSRSSKAHNQKMKLTWGSS
Sequence length 510
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Show/Hide Text Mining Associations (13)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 24377542
Adenocarcinoma Of Esophagus Associate 24377542
Arthralgia Associate 28173856
Arthritis Rheumatoid Associate 28173856
Brain Diseases Associate 37635087
Brain Stem Neoplasms Associate 37635087
Malar hypoplasia Associate 37635087
Neoplasms Associate 19508870, 37783940
Osteogenesis Imperfecta Type VII Associate 30371886
Paraplegia Associate 37635087