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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

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

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