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  2. DDX20 - DEAD-box helicase 20 Gene

DDX20 - DEAD-box helicase 20 Gene

中文名称:死盒解旋酶 20

种属: Homo sapiens

同用名: DP103; GEMIN3

基因 ID: 11218 | 基因类型: protein coding

关于 DDX20

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:111,755,901-111,768,000 (from NCBI)

This gene has 21 transcripts (splice variants), 200 orthologues and 38 paralogues. Broad expression in testis (RPKM 58.2), bone marrow (RPKM 6.4) and 17 other tissues.

功能概要

以保守基序 Asp-Glu-Ala-Asp (DEAD) 为特征的 DEAD 盒蛋白是推定的 RNA 解旋酶。它们涉及许多涉及 RNA 二级结构改变的细胞过程,例如翻译起始、核和线粒体剪接以及核糖体和剪接体组装。根据它们的分布模式,该家族的一些成员被认为参与了胚胎发生、精子发生以及细胞生长和分裂。该基因编码一种具有 ATP 酶活性的 DEAD box 蛋白,是运动神经元存活 (SMN) 复合体的组成部分。这种蛋白质直接与脊髓性肌萎缩基因产物 SMN 相互作用,并可能在 SMN 复合物对 RNP 的功能中发挥催化作用。[RefSeq 提供,2008 年 7 月]

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]

DDX20 基因产物(1)

mRNA Protein Name
NM_007204.5 NP_009135.4 probable ATP-dependent RNA helicase DDX20
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 DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
12007404 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11714716 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12007404 GOA
acts upstream of or within positive regulation of apoptotic process IGI
IGI: 通过遗传相互作用推断
16153597 GOA
involved in spliceosomal snRNP assembly EXP
EXP: 通过实验结果推断
12067652 GOA
involved in spliceosomal snRNP assembly IDA
IDA: 通过直接分析推断
18984161 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SMN complex IDA
IDA: 通过直接分析推断
17178713 GOA
part of SMN complex IPI
IPI: 通过物理相互作用推断
17178713 GOA
part of SMN-Sm protein complex IDA
IDA: 通过直接分析推断
18984161 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18984161 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

DDX20 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (87 - 248)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (329 - 404)

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

probable ATP-dependent RNA helicase DDX20

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20

DDX20 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 DDX20 Q9UHI6 DNM2 Homo sapiens P50570-2
Validated Y2H
32814053
Intra DDX20 Q9UHI6 DNM2 Homo sapiens P50570-2
Y2H Array
32814053
Intra DDX20 Q9UHI6 DNM2 Homo sapiens P50570-2
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 GDAP1 Homo sapiens Q8TB36
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 GDAP1 Homo sapiens Q8TB36
Validated Y2H
32814053
Intra DDX20 Q9UHI6 GDAP1 Homo sapiens Q8TB36
Y2H Array
32814053
Intra DDX20 Q9UHI6 MECP2 Homo sapiens P51608
Y2H Array
32814053
Intra DDX20 Q9UHI6 MECP2 Homo sapiens P51608
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 MECP2 Homo sapiens P51608
Validated Y2H
32814053
Intra DDX20 Q9UHI6 TOR1A Homo sapiens O14656-2
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 TOR1A Homo sapiens O14656-2
Validated Y2H
32814053
Intra DDX20 Q9UHI6 TOR1A Homo sapiens O14656-2
Y2H Array
32814053
Intra DDX20 Q9UHI6 CFTR Homo sapiens P13569
Ub Reconstruction
35156780
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Tag CoIP
28514442
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Bait CoIP
11714716
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Y2H Prey Pooling
32296183
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Y2H Array
32296183
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Filter Binding
10725331
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Bait CoIP
23752268
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Pull Down
10725331
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Tag CoIP
33961781
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
CoIP
10725331
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Anti Bait CoIP
23752268
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Validated Y2H
32814053
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Y2H Array
32814053
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Anti Bait CoIP
11714716
Intra DDX20 Q9UHI6 A2M Homo sapiens P01023
Validated Y2H
32814053
Intra DDX20 Q9UHI6 A2M Homo sapiens P01023
Y2H Array
32814053
Intra DDX20 Q9UHI6 A2M Homo sapiens P01023
Y2H Pooling
32814053
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
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

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 DDX20 RGD RGD:621744
Macaca mulatta DDX20 VGNC VGNC:99881
Bos taurus DDX20 VGNC VGNC:27958
Canis familiaris DDX20 VGNC VGNC:39848
Felis catus DDX20 VGNC VGNC:61400
Mus musculus DDX20 MGD MGI:1858415