TOE1 - target of EGR1, exonuclease Gene

Also Known as PCH7; TOE-1; hCaf1z

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 114034

About TOE1

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:45,340,170-45,343,973 (from NCBI)

This gene has 5 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.9), bone marrow (RPKM 5.3) and 25 other tissues.

Summary

Enables poly(A)-specific ribonuclease activity and snRNA binding activity. Involved in RNA phosphodiester bond hydrolysis, exonucleolytic and snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7. [provided by Alliance of Genome Resources, Apr 2022]

TOE1 Products (1)

mRNA	Protein	Name
NM_025077.4	NP_079353.3	target of EGR1 protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-5'-RNA exonuclease activity	IDA IDA: Inferred from direct assay	17178830	GOA
enables poly(A)-specific ribonuclease activity	IDA IDA: Inferred from direct assay	17178830	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19508870	GOA
enables snRNA binding	IDA IDA: Inferred from direct assay	28092684	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in snRNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	28092684	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Cajal body	IDA IDA: Inferred from direct assay	17178830	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17178830	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOE1 Protein Structure

CAF1

zf-CCCH

0
100
200
300
400
510 a.a.

Protein Preferred Names	Protein Names
target of EGR1 protein 1	target of EGR1, member 1 (nuclear)

TOE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TOE1	Q96GM8	TP53	Homo sapiens	P04637	Pull Down	19508870

Cross: Cross-species interaction Intra: Intraspecies interaction

TOE1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810749	TOE1 Antibody (YA9992)	WB, IHC-P	Human
HY-P87113	TOE1 Antibody (YA6806)	WB, ICC/IF, FC	Human

Related Diseases

Diseases	Alias
Pontocerebellar Hypoplasia, Type 7	Pontocerebellar Hypoplasia Type 7 PCH7 Pontocerebellar Hypoplasia-46,Xy Disorder Of Sex Development Syndrome Pontocerebellar Hypoplasia 7 Hypoplasia, Pontocerebellar, Type 7
Familial Adenomatous Polyposis 2	Mutyh-Related Attenuated Familial Adenomatous Polyposis FAP2 Colorectal Adenomatous Polyposis, Autosomal Recessive Adenomas, Multiple Colorectal Mutyh-Associated Polyposis Mutyh-Related Attenuated Familial Polyposis Coli Mutyh-Related Attenuated Fap Adenomas, Multiple Colorectal, Autosomal Recessive Mutyh-Related Afap Adenomas Multiple Colorectal Autosomal Recessive Colorectal Adenomatous Polyposis Autosomal Recessive Adenomatous Polyposis, Familial, Type 2
Myh-Associated Polyposis	Autosomal Recessive Familial Adenomatous Polyposis Autosomal Recessive Multiple Colorectal Adenomas Map Syndrome
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia, Type 11	PCH11 Pontocerebellar Hypoplasia Type 11 Pontocerebellar Hypoplasia Due To Tbc1d23 Pontocerebellar Hypoplasia 11 Doid:0112324
Spinal Cord Lymphoma	Lymphoma Of The Spinal Cord Spinal Cord Cancer Spine Lymphoma Spinal Cord--Cancer
Discrete Subaortic Stenosis
Pontocerebellar Hypoplasia, Type 4	Pontocerebellar Hypoplasia Type 4 PCH4 Olivopontocerebellar Hypoplasia Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia Pontocerebellar Hypoplasia 4 Young Mckeever Squier Syndrome Hypoplasia, Pontocerebellar, Type 4
Pontocerebellar Hypoplasia, Type 1d	PCH1D Pontocerebellar Hypoplasia Type 1d Pontocerebellar Hypoplasia 1d Doid:0112323 Hypoplasia, Pontocerebellar, Type 1d
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Taybi-Linder Syndrome Brachymelic Primordial Dwarfism Cephaloskeletal Dysplasia Low-Birth-Weight Dwarfism With Skeletal Dysplasia Microcephalic Osteodysplastic Primordial Dwarfism Type I Osteodysplastic Primordial Dwarfism Type I Primordial Microcephalic Dwarfism, Crachami Type Osteodysplastic Primordial Dwarfism, Type 1 MOPD1 Mopd I Mopd Osteodysplastic Primordial Dwarfism, Type I Tals Microcephalic Osteodysplastic Primordial Dwarfism Type 1 Mopd 1 Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3 Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Mopd Types I And Iii Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type Primordial Microcephalic Dwarfism Crachami Type Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14874	TOE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TOE1	RGD	RGD:1309094
Mus musculus	TOE1	MGD	MGI:1915526
Canis familiaris	TOE1	VGNC	VGNC:49627
Macaca mulatta	TOE1	VGNC	VGNC:78996
Bos taurus	TOE1	VGNC	VGNC:49580
Felis catus	TOE1	VGNC	VGNC:80390
Others	TOE1	NCBI