1. Gene
  2. DDX50 - DExD-box helicase 50 Gene

DDX50 - DExD-box helicase 50 Gene

中文名称:DExD-box 解旋酶 50

种属: Homo sapiens

同用名: GU2; GUB; mcdrh; RH-II/GuB

基因 ID: 79009 | 基因类型: protein coding

关于 DDX50

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:68,901,315-68,946,847 (from NCBI)

This gene has 5 transcripts (splice variants), 92 orthologues and 38 paralogues. Ubiquitous expression in testis (RPKM 10.4), thyroid (RPKM 9.2) and 25 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 DEAD 盒蛋白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。该基因编码可能参与核糖体 RNA 合成或加工的 DEAD box 酶。该基因与 DDX21,也称为 RH-II/GuA,具有相似的基因组结构,并且在 10 号染色体上处于串联方向,表明这两个基因在进化过程中是由基因复制产生的。该基因在 2、3 和 4 号染色体上具有假基因。该基因的选择性剪接产生多个转录本变体,但所有其他变体的全长性质尚未确定。[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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the Other variants but one has not been defined. [provided by RefSeq, Jul 2008]

DDX50 基因产物(1)

mRNA Protein Name
NM_024045.2 NP_076950.1 ATP-dependent RNA helicase DDX50

DDX50 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (162 - 335)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (414 - 483)

GUCT

GUCT: GUCT (NUC152) domain (571 - 666)

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  • 737 a.a.
蛋白主名 其他名称

ATP-dependent RNA helicase DDX50

DEAD (Asp-Glu-Ala-Asp) box polypeptide 50

关联疾病

疾病名称 别名
Immunodeficiency 51

IMD51

Candf5

Candidiasis, Familial, 5

Candidiasis, Familial, 5, Formerly

Candf5, Formerly

Familial Candidiasis 5

Candidiasis Familial 5 Autosomal Recessive

Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive

Chronic Mucocutaneous Candidiasis 5

Locked-In Syndrome

Locked In Syndrome

Cerebromedullospinal Disconnection

Locked-In State

Quadriplegia

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 DDX50 VGNC VGNC:103808
Felis catus DDX50 VGNC VGNC:61412
Rattus norvegicus DDX50 RGD RGD:1310934
Bos taurus DDX50 VGNC VGNC:27973
Mus musculus DDX50 MGD MGI:2182303
Canis familiaris DDX50 VGNC VGNC:39863