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  2. DHX16 - DEAH-box helicase 16 Gene

DHX16 - DEAH-box helicase 16 Gene

中文名称:DEAH 盒解旋酶 16

种属: Homo sapiens

同用名: DBP2; PRP8; Prp2; DDX16; NMOAS; PRPF2; PRO2014

基因 ID: 8449 | 基因类型: protein coding

关于 DHX16

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,653,127-30,673,006 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 202 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 17.0), spleen (RPKM 9.0) 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。该基因编码一个 DEAD box 蛋白,它是参与细胞周期进程的裂殖酵母 Prp8 蛋白的功能同系物。该基因被映射到染色体 6p21.3 上的 MHC 区域,该区域与许多恶性、遗传和自身免疫性疾病基因相关联。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供,2018 年 5 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. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]

DHX16 基因产物(3)

mRNA Protein Name
NM_001164239.2 NP_001157711.1 pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 isoform 2
NM_001363515.2 NP_001350444.1 pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 isoform 3
NM_003587.5 NP_003578.2 pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 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 molecular adaptor activity IDA
IDA: 通过直接分析推断
35263596 GOA
enables pattern recognition receptor activity IDA
IDA: 通过直接分析推断
35263596 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22365833 GOA
enables ubiquitin binding IDA
IDA: 通过直接分析推断
35263596 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antiviral innate immune response IDA
IDA: 通过直接分析推断
35263596 GOA
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
29360106 GOA
involved in mRNA splicing, via spliceosome IMP
IMP: 通过突变表型推断
20423332 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
29360106 GOA
is active in cytoplasm IDA
IDA: 通过直接分析推断
35263596 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
20423332 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20423332 GOA
part of spliceosomal complex IDA
IDA: 通过直接分析推断
25296192 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

DHX16 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (406 - 556)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (642 - 729)

HA2

HA2: Helicase associated domain (HA2) (792 - 882)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (917 - 1015)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1041 a.a.
蛋白主名 其他名称

pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16

ATP-dependent RNA helicase #3

DHX16 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
种属内
DHX16 O60231 XAB2 Homo sapiens Q9HCS7
Anti Tag CoIP
22365833
种属内
DHX16 O60231 GPKOW Homo sapiens Q92917
Anti Tag CoIP
33961781
种属内
DHX16 O60231 GPKOW Homo sapiens Q92917
Anti Tag CoIP
22365833
种属内
DHX16 O60231 SF3B2 Homo sapiens Q13435
Anti Tag CoIP
22365833
种属内
DHX16 O60231 SF3B2 Homo sapiens Q13435
Y2H
22365833
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
Neuromuscular Oculoauditory Syndrome

Neuromuscular Disease And Ocular Or Auditory Anomalies With Or Without Seizures

NMOAS

Plasmodium Malariae Malaria

Quartan Malaria

Malaria By Plasmodium Malariae

Nephrotic Syndrome Of Quartan Malaria

Malaria Nephrosis

Malarial Nephrosis

Nephrotic Syndrome In Malaria

Quartan Nephrosis

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
Rattus norvegicus DHX16 RGD RGD:1302963
Bos taurus DHX16 VGNC VGNC:28049
Felis catus DHX16 VGNC VGNC:61475
Canis familiaris DHX16 VGNC VGNC:39940
Macaca mulatta DHX16 VGNC VGNC:71761
Mus musculus DHX16 MGD MGI:1916442