2. Gene
  3. DHX38 - DEAH-box helicase 38 Gene

DHX38 - DEAH-box helicase 38 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：DEAH 盒解旋酶 38

种属: Homo sapiens

同用名: RP84; DDX38; PRP16; PRPF16

基因 ID: 9785 | 基因类型: protein coding

关于 DHX38

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:72,093,847-72,112,912 (from NCBI)

This gene has 14 transcripts (splice variants), 206 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 15.5), bone marrow (RPKM 15.1) 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 DEAD/H 盒剪接因子家族的成员。这种蛋白质比其他 DEAD/H 家族成员更类似于酵母 Prp16。它是一种 ATP 酶，对于 pre-mRNA 剪接过程中的催化步骤 II 至关重要。[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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]

DHX38 基因产物(1)

mRNA Protein Name
NM_014003.4 NP_054722.2 pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16
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 protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
9524131 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 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

DHX38 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (536 - 690)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (770 - 861)

HA2

HA2: Helicase associated domain (HA2) (923 - 1012)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (1047 - 1147)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1227 a.a.
蛋白主名 其他名称

pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16

ATP-dependent RNA helicase DHX38

DHX38 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
Intra DHX38 Q92620 NUDCD1 Homo sapiens Q96RS6
Lumier
25036637
Intra DHX38 Q92620 NUDCD1 Homo sapiens Q96RS6
Anti Tag CoIP
33961781
Intra DHX38 Q92620 DHX16 Homo sapiens O60231
Anti Tag CoIP
22365833
Intra DHX38 Q92620 DHX16 Homo sapiens O60231
Y2H
22365833
Intra DHX38 Q92620 RBM10 Homo sapiens P98175
Anti Tag CoIP
22365833
Intra DHX38 Q92620 RBM10 Homo sapiens P98175
Y2H
22365833
Intra DHX38 Q92620 GPKOW Homo sapiens Q92917
Y2H
22365833
Intra DHX38 Q92620 TERF2IP Homo sapiens Q9NYB0
BiFC
21044950
Intra DHX38 Q92620 TERF2IP Homo sapiens Q9NYB0
Pull Down
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
Retinitis Pigmentosa 84

RP84

Retinitis Pigmentosa, Type 84
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
Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Night Blindness

Nyctalopia
Bietti Crystalline Corneoretinal Dystrophy

BCD

Bietti Crystalline Dystrophy

Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy

Bietti Crystalline Retinopathy

Bietti'S Crystalline Dystrophy

Crystalline Retinopathy

Dystrophy, Corneoretinal, Crystalline, Bietti
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03757 DHX38 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DHX38 RGD RGD:1310345
Macaca mulatta DHX38 VGNC VGNC:71640
Felis catus DHX38 VGNC VGNC:61483
Canis familiaris DHX38 VGNC VGNC:39948
Bos taurus DHX38 VGNC VGNC:57044
Mus musculus DHX38 MGD MGI:1927617
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