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

TOE1 - target of EGR1, exonuclease Gene

中文名称:EGR1 的目标,核酸外切酶

种属: Homo sapiens

同用名: PCH7; TOE-1; hCaf1z

基因 ID: 114034 | 基因类型: protein coding

关于 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.

功能概要

启用聚 (A) 特异性核糖核酸酶活性和 snRNA 结合活性。参与 RNA 磷酸二酯键水解、核酸外切和 snRNA 3'-末端加工。位于 Cajal 体和细胞质中。与 7 型脑桥小脑发育不全有关。[由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_025077.4 NP_079353.3 target of EGR1 protein 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 3'-5'-RNA exonuclease activity IDA
IDA: 通过直接分析推断
17178830 GOA
enables poly(A)-specific ribonuclease activity IDA
IDA: 通过直接分析推断
17178830 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19508870 GOA
enables snRNA binding IDA
IDA: 通过直接分析推断
28092684 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in snRNA 3'-end processing IMP
IMP: 通过突变表型推断
28092684 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Cajal body IDA
IDA: 通过直接分析推断
17178830 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
17178830 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TOE1 蛋白结构

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
  • 200
  • 300
  • 400
  • 510 a.a.
蛋白主名 其他名称

target of EGR1 protein 1

target of EGR1, member 1 (nuclear)

TOE1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TOE1 Q96GM8 TP53 Homo sapiens P04637 19508870
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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