1. Gene
  2. EXOSC1 - exosome component 1 Gene

EXOSC1 - exosome component 1 Gene

中文名称:外泌体组分 1

种属: Homo sapiens

同用名: p13; CSL4; SKI4; Csl4p; PCH1F; Ski4p; CGI-108

基因 ID: 51013 | 基因类型: protein coding

关于 EXOSC1

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:97,435,909-97,446,006 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 9.3), urinary bladder (RPKM 7.6) and 25 other tissues.

功能概要

该基因编码外泌体的核心成分。哺乳动物外泌体是快速降解含 AU 丰富元素的 RNA 所必需的,但不是 poly (A) 缩短所必需的。这种蛋白质与外泌体的结合是通过与核糖体 RNA 加工蛋白 42 和核糖体 RNA 加工蛋白 46 的蛋白质-蛋白质相互作用介导的。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2016 年 1 月]

This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]

EXOSC1 基因产物(6)

mRNA Protein Name
NM_001318362.2 NP_001305291.1 exosome complex component CSL4 isoform b
NM_001318363.2 NP_001305292.1 exosome complex component CSL4 isoform c
NM_001318364.2 NP_001305293.1 exosome complex component CSL4 isoform d
NM_001318365.2 NP_001305294.1 exosome complex component CSL4 isoform e
NM_001318366.2 NP_001305295.1 exosome complex component CSL4 isoform e
NM_016046.5 NP_057130.1 exosome complex component CSL4 isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
11812149 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
细胞组分 GO 注释 逻辑证据 参考文献 来源
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 nucleolus IDA
IDA: 通过直接分析推断
11812149 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20531386 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

EXOSC1 蛋白结构

ECR1_N

ECR1_N: Exosome complex exonuclease RRP4 N-terminal region (8 - 39)

EXOSC1

EXOSC1: Exosome component EXOSC1/CSL4 (64 - 135)

  • 0
  • 100
  • 195 a.a.
蛋白主名 其他名称

exosome complex component CSL4

3'-5' exoribonuclease CSL4 homolog

EXOSC1 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
Intra EXOSC1 Q9Y3B2 REL Homo sapiens Q04864-2
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 REL Homo sapiens Q04864-2
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 ZNF143 Homo sapiens P52747
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 ZNF143 Homo sapiens P52747
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 EXOSC4 Homo sapiens Q9NPD3
Anti Tag CoIP
12788944
Intra EXOSC1 Q9Y3B2 EXOSC4 Homo sapiens Q9NPD3
Y2H
15231747
Intra EXOSC1 Q9Y3B2 EXOSC4 Homo sapiens Q9NPD3
GMS
25043052
Intra EXOSC1 Q9Y3B2 EXOSC4 Homo sapiens Q9NPD3
Anti Tag CoIP
33961781
Intra EXOSC1 Q9Y3B2 EXOSC4 Homo sapiens Q9NPD3
Anti Tag CoIP
26496610
Intra EXOSC1 Q9Y3B2 EXOSC4 Homo sapiens Q9NPD3
Anti Tag CoIP
28514442
Intra EXOSC1 Q9Y3B2 EXOSC7 Homo sapiens Q15024
GMS
25043052
Intra EXOSC1 Q9Y3B2 EXOSC7 Homo sapiens Q15024
Y2H
12419256
Intra EXOSC1 Q9Y3B2 EXOSC7 Homo sapiens Q15024
Anti Tag CoIP
26496610
Intra EXOSC1 Q9Y3B2 EXOSC7 Homo sapiens Q15024
Y2H
11812149
Intra EXOSC1 Q9Y3B2 EXOSC7 Homo sapiens Q15024
Anti Tag CoIP
33961781
Intra EXOSC1 Q9Y3B2 EXOSC7 Homo sapiens Q15024
Anti Tag CoIP
12788944
Intra EXOSC1 Q9Y3B2 EXOSC7 Homo sapiens Q15024
Anti Tag CoIP
28514442
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Pull Down
11812149
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Y2H
27107012
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Validated Y2H
25416956
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Anti Tag CoIP
26496610
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Y2H Array
25416956
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Anti Tag CoIP
33961781
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Y2H
15231747
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Y2H
11812149
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Anti Tag CoIP
28514442
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
MAPPIT
25416956
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
SLC
27107012
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Validated Y2H
27107012
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
BFG-2H
27107012
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
GMS
25043052
Intra EXOSC1 Q9Y3B2 EXOSC5 Homo sapiens Q9NQT4
Y2H
12419256
Intra EXOSC1 Q9Y3B2 EXOSC8 Homo sapiens Q96B26
Y2H
15231747
Intra EXOSC1 Q9Y3B2 EXOSC8 Homo sapiens Q96B26
Anti Tag CoIP
33961781
Intra EXOSC1 Q9Y3B2 EXOSC8 Homo sapiens Q96B26
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 EXOSC8 Homo sapiens Q96B26
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 EXOSC8 Homo sapiens Q96B26
GMS
25043052
Intra EXOSC1 Q9Y3B2 EXOSC8 Homo sapiens Q96B26
Anti Tag CoIP
26496610
Intra EXOSC1 Q9Y3B2 EXOSC8 Homo sapiens Q96B26
Anti Tag CoIP
28514442
Intra EXOSC1 Q9Y3B2 TCF4 Homo sapiens P15884
Validated Y2H
25416956
Intra EXOSC1 Q9Y3B2 TCF4 Homo sapiens P15884
Y2H Array
25416956
Intra EXOSC1 Q9Y3B2 ZNF76 Homo sapiens P36508
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 ZNF76 Homo sapiens P36508
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 LNX1 Homo sapiens Q8TBB1
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 LNX1 Homo sapiens Q8TBB1
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 PAK5 Homo sapiens Q9P286
Validated Y2H
25416956
Intra EXOSC1 Q9Y3B2 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 ASB9 Homo sapiens Q96DX5
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 ASB9 Homo sapiens Q96DX5
Y2H Array
32296183
Intra EXOSC1 Q9Y3B2 KCTD1 Homo sapiens Q719H9
Y2H Prey Pooling
25416956
Intra EXOSC1 Q9Y3B2 KCTD1 Homo sapiens Q719H9
Validated Y2H
25416956
Intra EXOSC1 Q9Y3B2 KCTD1 Homo sapiens Q719H9
Y2H Prey Pooling
32296183
Intra EXOSC1 Q9Y3B2 KCTD1 Homo sapiens Q719H9
Y2H Array
25416956
Intra EXOSC1 Q9Y3B2 KCTD1 Homo sapiens Q719H9
Y2H Array
32296183
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 1f

PCH1F

Pontocerebellar Hypoplasia Type 1f

Pontocerebellar Hypoplasia 1f

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Diamond-Blackfan Anemia 7

DBA7

Rpl11-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 7

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

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

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

Congenital Aphakia

Congenital Absence Of Lens

Aphakia, Congenital Primary

Agenesis Of Lens

Histrionic Personality Disorder
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
Macaca mulatta EXOSC1 VGNC VGNC:72289
Mus musculus EXOSC1 MGD MGI:1913833
Bos taurus EXOSC1 VGNC VGNC:28655
Canis familiaris EXOSC1 VGNC VGNC:40521
Rattus norvegicus EXOSC1 RGD RGD:1591855