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  2. MTREX - Mtr4 exosome RNA helicase Gene

MTREX - Mtr4 exosome RNA helicase Gene

中文名称:Mtr4 外泌体 RNA 解旋酶

种属: Homo sapiens

同用名: Dob1; Mtr4; SKIV2L2; fSAP118; KIAA0052

基因 ID: 23517 | 基因类型: protein coding

关于 MTREX

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:55,307,989-55,425,579 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues and 8 paralogues. Ubiquitous expression in prostate (RPKM 29.9), gall bladder (RPKM 23.3) and 25 other tissues.

功能概要

启用 ATP 结合活性和 RNA 解旋酶活性。参与 RNA 分解代谢过程;细胞对 DNA 损伤刺激的反应;和 5.8S rRNA 的成熟。位于核质中。 TRAMP 复合物和催化步骤 2 剪接体的一部分。与核外泌体 (RNase 复合物) 共定位。肌萎缩侧索硬化的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables ATP binding activity and RNA helicase activity. Involved in RNA catabolic process; cellular response to DNA damage stimulus; and maturation of 5.8S rRNA. Located in nucleoplasm. Part of TRAMP complex and catalytic step 2 spliceosome. Colocalizes with nuclear exosome (RNase complex). Biomarker of amyotrophic lateral sclerosis. [provided by Alliance of Genome Resources, Apr 2022]

MTREX 基因产物(1)

mRNA Protein Name
NM_015360.5 NP_056175.3 exosome RNA helicase MTR4
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 ATP binding IDA
IDA: 通过直接分析推断
29844170 GOA
enables RNA helicase activity IDA
IDA: 通过直接分析推断
29844170 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15231747 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
29902117 GOA
involved in RNA catabolic process IDA
IDA: 通过直接分析推断
29906447 GOA
involved in maturation of 5.8S rRNA IMP
IMP: 通过突变表型推断
17412707 GOA
involved in rRNA processing IMP
IMP: 通过突变表型推断
29107693 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of TRAMP complex IDA
IDA: 通过直接分析推断
21855801 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
part of exosome (RNase complex) IDA
IDA: 通过直接分析推断
11719186 GOA
part of nuclear exosome (RNase complex) IDA
IDA: 通过直接分析推断
26166824 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16263084 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

MTREX 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (143 - 287)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (453 - 528)

rRNA_proc-arch

rRNA_proc-arch: rRNA-processing arch domain (582 - 842)

DSHCT

DSHCT: DSHCT (NUC185) domain (866 - 1042)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1042 a.a.
蛋白主名 其他名称

exosome RNA helicase MTR4

ATP-dependent RNA helicase DOB1

MTREX 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
MTREX P42285 MPHOSPH6 Homo sapiens Q99547 17412707
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
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Pontocerebellar Hypoplasia, Type 1c

PCH1C

Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia

Pontocerebellar Hypoplasia Type 1c

Pontocerebellar Hypoplasia 1c

Doid:0112334

Hypoplasia, Pontocerebellar, Type 1c

Trichohepatoenteric Syndrome 2

THES2

Perlman Syndrome

Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor

PRLMNS

Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism

Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor

Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor

Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor

Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism

Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome

Renal Hamartomas Nephroblastomatosis And Fetal Gigantism

Nephroblastoma

Fetal Macrosomia

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

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

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
Canis familiaris MTREX VGNC VGNC:46201
Bos taurus MTREX VGNC VGNC:34649
Macaca mulatta MTREX VGNC VGNC:74989
Rattus norvegicus MTREX RGD RGD:1305984
Felis catus MTREX VGNC VGNC:63659
Mus musculus MTREX MGD MGI:1919448