1. Gene
  2. DDX54 - DEAD-box helicase 54 Gene

DDX54 - DEAD-box helicase 54 Gene

中文名称:死盒解旋酶 54

种属: Homo sapiens

同用名: DP97

基因 ID: 79039 | 基因类型: protein coding

关于 DDX54

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:113,157,173-113,185,478 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues, 38 paralogues and is associated with 1 phenotype. Ubiquitous expression in kidney (RPKM 11.3), spleen (RPKM 9.8) 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。由该基因编码的核仁蛋白以激素依赖性方式与核受体相互作用,并抑制其转录活性。已发现该基因编码不同亚型的可变剪接变体。[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 nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DDX54 基因产物(2)

mRNA Protein Name
NM_001111322.2 NP_001104792.1 ATP-dependent RNA helicase DDX54 isoform 1
NM_024072.4 NP_076977.3 ATP-dependent RNA helicase DDX54 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
enables RNA helicase activity IDA
IDA: 通过直接分析推断
12466272 GOA
enables nuclear estrogen receptor binding IDA
IDA: 通过直接分析推断
12466272 GOA
enables signaling receptor binding IDA
IDA: 通过直接分析推断
12466272 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
12466272 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA metabolic process IDA
IDA: 通过直接分析推断
12466272 GOA
involved in RNA processing IDA
IDA: 通过直接分析推断
12466272 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleolus IDA
IDA: 通过直接分析推断
12466272 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12466272 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

DDX54 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (120 - 283)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (357 - 433)

DBP10CT

DBP10CT: DBP10CT (NUC160) domain (714 - 774)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 881 a.a.
蛋白主名 其他名称

ATP-dependent RNA helicase DDX54

ATP-dependent RNA helicase DP97

关联疾病

疾病名称 别名
Renal Hypoplasia
Febrile Seizures, Familial, 6

FEB6

Familial Febrile Seizures 6

Convulsions, Familial Febrile, 6

Familial Febrile Convulsions 6

Febrile Convulsions, Familial, 6

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 DDX54 VGNC VGNC:61415
Mus musculus DDX54 MGD MGI:1919240
Canis familiaris DDX54 VGNC VGNC:58299
Bos taurus DDX54 VGNC VGNC:27976
Macaca mulatta DDX54 VGNC VGNC:71680
Rattus norvegicus DDX54 RGD RGD:1562539