2. Gene
  3. TOE1 - target of EGR1, exonuclease Gene

TOE1 - target of EGR1, exonuclease Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PCH7; TOE-1; hCaf1z

Gene ID: 114034 | Gene type: protein coding

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 Reference 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 Reference Source
involved in snRNA 3'-end processing IMP
IMP: Inferred from mutant phenotype
28092684 GOA
Cellular Component GO Annotation Evidence Reference 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

CAF1: CAF1 family ribonuclease (38 - 453)

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (297 - 320)

  • 0
  • 100
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  • 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 Reference
Intra
TOE1 Q96GM8 TP53 Homo sapiens P04637
Pull Down
19508870
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14874 TOE1 Human Pre-designed siRNA Set A Pre-designed Sets / 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