1. Gene
  2. EXOSC9 - exosome component 9 Gene

EXOSC9 - exosome component 9 Gene

中文名称:外泌体组分 9

种属: Homo sapiens

同用名: p5; p6; PCH1D; RRP45; PMSCL1; Rrp45p; PM/Scl-75

基因 ID: 5393 | 基因类型: protein coding

关于 EXOSC9

Cytogenetic location: 4q27 Genomic coordinates (GRCh38): 4:121,801,323-121,817,021 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 24.9), bone marrow (RPKM 19.1) and 24 other tissues.

功能概要

该基因编码人类外泌体的一个成分,即一种核糖核酸外切酶复合物,可在细胞核和细胞质中加工和降解 RNA。该成分可能在 mRNA 降解和多发性肌炎/硬皮病自身抗原复合物中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

EXOSC9 基因产物(2)

mRNA Protein Name
NM_001034194.2 NP_001029366.1 exosome complex component RRP45 isoform 1
NM_005033.3 NP_005024.2 exosome complex component RRP45 isoform 2
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
NOT enables RNA exonuclease activity IDA
IDA: 通过直接分析推断
17174896 GOA
enables mRNA 3'-UTR AU-rich region binding IDA
IDA: 通过直接分析推断
11782436 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12788944 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA catabolic process IDA
IDA: 通过直接分析推断
17174896 GOA
involved in RNA processing IDA
IDA: 通过直接分析推断
17174896 GOA
involved in mRNA catabolic process IMP
IMP: 通过突变表型推断
11782436 GOA
involved in nuclear mRNA surveillance IMP
IMP: 通过突变表型推断
17545563 GOA
involved in nuclear polyadenylation-dependent rRNA catabolic process IMP
IMP: 通过突变表型推断
16455498 GOA
involved in nuclear-transcribed mRNA catabolic process IMP
IMP: 通过突变表型推断
17545563 GOA
involved in positive regulation of cell growth IMP
IMP: 通过突变表型推断
17545563 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
17545563 GOA
located in cytosol IDA
IDA: 通过直接分析推断
20531386 GOA
part of exosome (RNase complex) IDA
IDA: 通过直接分析推断
20531389 GOA
located in nuclear chromosome IDA
IDA: 通过直接分析推断
24105744 GOA
part of nuclear exosome (RNase complex) IDA
IDA: 通过直接分析推断
22791713 GOA
NOT located in nucleolus IDA
IDA: 通过直接分析推断
22791713 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
20531386 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
24105744 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17545563 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

EXOSC9 蛋白结构

RNase_PH

RNase_PH: 3' exoribonuclease family, domain 1 (32 - 163)

RNase_PH_C

RNase_PH_C: 3' exoribonuclease family, domain 2 (189 - 254)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 439 a.a.
蛋白主名 其他名称

exosome complex component RRP45

P75 polymyositis-scleroderma overlap syndrome associated autoantigen

EXOSC9 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
EXOSC9 Q06265 EXOSC4 Homo sapiens Q9NPD3 12788944
种属内
EXOSC9 Q06265 EXOSC4 Homo sapiens Q9NPD3 26496610
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 EXOSC9 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76325 EXOSC9 Protein, Human (sf9, His) Q06265-1/NP_005024.2 (M1-N439) ≥95%

关联疾病

疾病名称 别名
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

Cerebral Atrophy
Polymyositis

Pm - [Polymyositis]

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

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

Pontocerebellar Hypoplasia, Type 1b

Pontocerebellar Hypoplasia Type 1b

PCH1B

Pontocerebellar Hypoplasia 1b

Hypoplasia, Pontocerebellar, Type 1b

Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4

ALS4

Amyotrophic Lateral Sclerosis 4

Dhmn With Upper Motor Neuron Signs

Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

Als 4

Distal Hereditary Motor Neuropathy With Pyramidal Features

Amyotrophic Lateral Sclerosis Juvenile 4

Neuronopathy Distal Hereditary Motor With Pyramidal Features

Sclerosis, Lateral, Amyotrophic, Type Type 4

Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii

Hyperoxaluria, Primary, Type Ii

Primary Hyperoxaluria Type 2

D-Glycerate Dehydrogenase Deficiency

Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency

HP2

Oxalosis Ii

Glyceric Aciduria

L-Glyceric Aciduria

Primary Hyperoxaluria, Type Ii

Oxalosis 2

Hyperoxaluria Primary 2

Hyperoxaluria Primary Type Ii

Ph2

Primary Hyperoxaluria Type Ii

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

Osteogenesis Imperfecta, Type Xii

Osteogenesis Imperfecta Type 12

OI12

Osteogenesis Imperfecta Type Xii

Oi, Type Xii

Osteogenesis Imperfecta 12

Oi Type Xii

Oi-Xii

Osteogenesis Imperfecta Sillence Type Iii

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2

Ataxia With Oculomotor Apraxia Type 2

Scar1

SCAN2

Ataxia-Oculomotor Apraxia 2

Ataxia-Ocular Apraxia 2

Ataxia-Oculomotor Apraxia Type 2

Scan 2

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

Scar1, Formerly

Autosomal Recessive Spinocerebellar Ataxia-1

Spinocerebellar Ataxia, Autosomal Recessive, 1

Ataxia-Ocular Apraxia-2

Spinocerebellar Ataxia, Autosomal Recessive 1

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Mus musculus EXOSC9 MGD MGI:1355319
Felis catus EXOSC9 VGNC VGNC:68925
Rattus norvegicus EXOSC9 RGD RGD:1307888
Canis familiaris EXOSC9 VGNC VGNC:40529
Bos taurus EXOSC9 VGNC VGNC:28663
Macaca mulatta EXOSC9 VGNC VGNC:72477
Others EXOSC9 NCBI