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  2. DDX23 - DEAD-box helicase 23 Gene

DDX23 - DEAD-box helicase 23 Gene

中文名称:死盒解旋酶 23

种属: Homo sapiens

同用名: prp28; PRPF28; U5-100K; SNRNP100; U5-100KD

基因 ID: 9416 | 基因类型: protein coding

关于 DDX23

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:48,829,756-48,852,163 (from NCBI)

This gene has 23 transcripts (splice variants), 209 orthologues, 38 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 26.9), appendix (RPKM 25.8) and 25 other tissues.

功能概要

该基因编码 DEAD box 蛋白家族的一个成员。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。该基因编码的蛋白质是 U5 snRNP 复合体的组成部分;它可能促进核 pre-mRNA 剪接过程中剪接体的构象变化。已发现该基因的选择性剪接转录变体,但其生物学有效性尚未确定。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

DDX23 基因产物(1)

mRNA Protein Name
NM_004818.3 NP_004809.2 probable ATP-dependent RNA helicase DDX23
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 helicase activity IDA
IDA: 通过直接分析推断
9539711 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9774689 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in R-loop processing IDA
IDA: 通过直接分析推断
28076779 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U4/U6 x U5 tri-snRNP complex IDA
IDA: 通过直接分析推断
9409622 GOA
part of U4/U6 x U5 tri-snRNP complex IPI
IPI: 通过物理相互作用推断
30975767 GOA
part of U5 snRNP IDA
IDA: 通过直接分析推断
9539711 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
located in chromatin IDA
IDA: 通过直接分析推断
28076779 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28076779 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

DDX23 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (415 - 615)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (683 - 759)

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

probable ATP-dependent RNA helicase DDX23

100 kDa U5 snRNP-specific protein

DDX23 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
DDX23 Q9BUQ8 SF3A2 Homo sapiens Q15428 17332742
种属内
DDX23 Q9BUQ8 SNRNP40 Homo sapiens Q96DI7 33961781
种属内
DDX23 Q9BUQ8 SNRNP40 Homo sapiens Q96DI7 28514442
种属内
DDX23 Q9BUQ8 SNRNP40 Homo sapiens Q96DI7 9774689
种属内
DDX23 Q9BUQ8 TERF1 Homo sapiens P54274 21044950
种属内
DDX23 Q9BUQ8 TERF1 Homo sapiens P54274 21044950
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
Gnathomiasis

Gnathostomiasis

Infectious Disease By Gnathostoma

Gnathostomosis

Wandering Swelling

Elephantiasis
Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type

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
Felis catus DDX23 VGNC VGNC:61401
Macaca mulatta DDX23 VGNC VGNC:71644
Rattus norvegicus DDX23 RGD RGD:1308685
Bos taurus DDX23 VGNC VGNC:27959
Mus musculus DDX23 MGD MGI:1921601
Canis familiaris DDX23 VGNC VGNC:39850