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  2. DDX6 - DEAD-box helicase 6 Gene

DDX6 - DEAD-box helicase 6 Gene

中文名称:死盒解旋酶 6

种属: Homo sapiens

同用名: P54; RCK; HLR2; IDDILF; Rck/p54

基因 ID: 1656 | 基因类型: protein coding

关于 DDX6

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,747,763-118,791,744 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues, 38 paralogues and is associated with 58 phenotypes. Ubiquitous expression in brain (RPKM 27.6), lymph node (RPKM 26.5) and 25 other tissues.

功能概要

该基因编码 DEAD box 蛋白家族的一个成员。该蛋白质是一种在 P 体和应激颗粒中发现的 RNA 解旋酶,在翻译抑制和 mRNA 降解中发挥作用。它是 MicroRNA 诱导的基因沉默所必需的。已经鉴定出编码相同蛋白质的多个可变剪接变体。[RefSeq 提供,2012 年 3 月]

This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]

DDX6 基因产物(2)

mRNA Protein Name
NM_001257191.3 NP_001244120.1 probable ATP-dependent RNA helicase DDX6
NM_004397.6 NP_004388.2 probable ATP-dependent RNA helicase DDX6

DDX6 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (121 - 286)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (353 - 429)

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  • 483 a.a.
蛋白主名 其他名称

probable ATP-dependent RNA helicase DDX6

ATP-dependent RNA helicase p54

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies

IDDILF

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Telecanthus
Childhood Liposarcoma

Pediatric Liposarcoma

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
Mus musculus DDX6 MGD MGI:104976
Bos taurus DDX6 VGNC VGNC:27981
Canis familiaris DDX6 VGNC VGNC:39869
Felis catus DDX6 VGNC VGNC:61420
Macaca mulatta DDX6 VGNC VGNC:71764
Rattus norvegicus DDX6 RGD RGD:1564560