TOE1 (target of EGR1, exonuclease)

Gene

• Entrez ID: 114034
• Gene name: Target of EGR1, exonuclease
• Gene symbol: TOE1
• Synonyms (NCBI Gene): PCH7, TOE-1, hCaf1z
• Chromosome: 1
• Chromosome location: 1p34.1

SNPs

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
rs1393167436	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1557531984	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1570621473	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1570621555	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

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
MIRT2462130	hsa-miR-4697-3p	CLIP-seq
MIRT2462131	hsa-miR-5095	CLIP-seq
MIRT2462132	hsa-miR-552	CLIP-seq
MIRT2462133	hsa-miR-764	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	19508870

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000175	Function	3'-5'-RNA exonuclease activity	IBA
GO:0000175	Function	3'-5'-RNA exonuclease activity	IDA	17178830
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IDA	17178830
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	19508870, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	17178830
GO:0008270	Function	Zinc ion binding	IEA
GO:0015030	Component	Cajal body	IBA
GO:0015030	Component	Cajal body	IDA	17178830
GO:0016070	Process	RNA metabolic process	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0017069	Function	SnRNA binding	IBA
GO:0017069	Function	SnRNA binding	IDA	28092684
GO:0034472	Process	SnRNA 3'-end processing	IBA
GO:0034472	Process	SnRNA 3'-end processing	IMP	28092684
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 613931
• HGNC: 15954
• e!Ensembl: ENSG00000132773

Protein

• 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Pontocerebellar hypoplasia type 7	Likely pathogenic; Pathogenic	rs752569685, rs267598623, rs773776995, rs761932920, rs2149260739, rs1570621473, rs371848318, rs777030573, rs758153898, rs780563835, rs774056037, rs1570621555, rs778263701, rs1557531984, rs750266350, rs1570626350, rs779707076	RCV002221842 RCV001682617 RCV001678596 RCV001783889 RCV002251067 RCV000477732 RCV000477708 RCV000477747 RCV000477716 RCV000477688 RCV000851255 RCV000851258 RCV000851256 RCV000851252 RCV000851254 RCV000851253 RCV000851259 RCV001196657
See cases	Likely pathogenic	rs777525101	RCV002253037
TOE1-related disorder	Likely pathogenic	rs2524802526, rs750266350	RCV003402521 RCV003892775

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Gastric cancer	Likely benign	rs370868286	RCV005930388
Malignant tumor of esophagus	Benign	rs151174696	RCV005928252

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
Seizures	Associate	37635087
Telomeric 22q13 Monosomy Syndrome	Associate	30371886
Thyroid Neoplasms	Associate	38165228