1. Gene
  2. DHX29 - DExH-box helicase 29 Gene

DHX29 - DExH-box helicase 29 Gene

中文名称:DExH-box 解旋酶 29

种属: Homo sapiens

同用名: DDX29

基因 ID: 54505 | 基因类型: protein coding

关于 DHX29

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:55,256,055-55,307,694 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues and 18 paralogues. Ubiquitous expression in thyroid (RPKM 12.7), prostate (RPKM 10.7) and 25 other tissues.

功能概要

该基因编码 DEAH (Asp-Glu-Ala-His) 蛋白质亚家族的成员,是 RNA 解旋酶 DEAD (Asp-Glu-Ala-Asp) 盒家族的一部分。编码的蛋白质在翻译起始中发挥作用,并且在起始密码子选择期间特别需要核糖体扫描跨稳定的 mRNA 二级结构。这种蛋白质也可能在检测病毒衍生的胞质核酸中发挥作用。敲低该基因会导致蛋白质翻译减少和癌细胞增殖受损。[RefSeq 提供,2016 年 9 月]

This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of Cancer cells. [provided by RefSeq, Sep 2016]

DHX29 基因产物(3)

mRNA Protein Name
NM_001345964.2 NP_001332893.1 ATP-dependent RNA helicase DHX29 isoform 2
NM_001345965.2 NP_001332894.1 ATP-dependent RNA helicase DHX29 isoform 3 precursor
NM_019030.4 NP_061903.2 ATP-dependent RNA helicase DHX29 isoform 1
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 ribonucleoside triphosphate phosphatase activity IMP
IMP: 通过突变表型推断
23047696 GOA
enables ribosomal small subunit binding IDA
IDA: 通过直接分析推断
23706745 GOA
enables translation activator activity IMP
IMP: 通过突变表型推断
20018725 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in formation of translation preinitiation complex IMP
IMP: 通过突变表型推断
23047696 GOA
involved in ribosome assembly IMP
IMP: 通过突变表型推断
20018725 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of cytosolic small ribosomal subunit IDA
IDA: 通过直接分析推断
20018725 GOA
part of eukaryotic 43S preinitiation complex IDA
IDA: 通过直接分析推断
23706745 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

DHX29 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (580 - 738)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (896 - 985)

HA2

HA2: Helicase associated domain (HA2) (1048 - 1138)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (1180 - 1302)

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  • 1369 a.a.
蛋白主名 其他名称

ATP-dependent RNA helicase DHX29

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29

关联疾病

疾病名称 别名
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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 DHX29 MGD MGI:2145374
Canis familiaris DHX29 VGNC VGNC:39941
Felis catus DHX29 VGNC VGNC:61476
Macaca mulatta DHX29 VGNC VGNC:71627
Rattus norvegicus DHX29 RGD RGD:2318361
Bos taurus DHX29 VGNC VGNC:28050