1. Gene
  2. DHX8 - DEAH-box helicase 8 Gene

DHX8 - DEAH-box helicase 8 Gene

中文名称:DEAH 盒解旋酶 8

种属: Homo sapiens

同用名: DDX8; Dhr2; HRH1; PRP22; PRPF22

基因 ID: 1659 | 基因类型: protein coding

关于 DHX8

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:43,483,975-43,612,083 (from NCBI)

This gene has 9 transcripts (splice variants), 219 orthologues and 18 paralogues. Ubiquitous expression in bone marrow (RPKM 10.3), testis (RPKM 7.7) and 25 other tissues.

功能概要

该基因是 DEAH 盒多肽家族的成员。编码的蛋白质包含 DEAH (Asp-Glu-Ala-His) 基序,这是所有 DEAH 盒蛋白的特征,并且被认为起着 ATP 依赖性 RNA 解旋酶的作用,在剪接体输出之前调节剪接 mRNA 的释放从细胞核。这种蛋白质可能是 1 型人类免疫缺陷病毒 (HIV-1) 复制所必需的。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 10 月]

This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

DHX8 基因产物(8)

mRNA Protein Name
NM_001302623.3 NP_001289552.1 ATP-dependent RNA helicase DHX8 isoform 2
NM_001322216.2 NP_001309145.1 ATP-dependent RNA helicase DHX8 isoform 3
NM_001322217.2 NP_001309146.1 ATP-dependent RNA helicase DHX8 isoform 4
NM_001322218.3 NP_001309147.1 ATP-dependent RNA helicase DHX8 isoform 5
NM_001322219.2 NP_001309148.1 ATP-dependent RNA helicase DHX8 isoform 6
NM_001322220.3 NP_001309149.1 ATP-dependent RNA helicase DHX8 isoform 7
NM_001322221.2 NP_001309150.1 ATP-dependent RNA helicase DHX8 isoform 8
NM_004941.3 NP_004932.1 ATP-dependent RNA helicase DHX8 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 identical protein binding IPI
IPI: 通过物理相互作用推断
22365833 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16820410 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
28076346 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2-type catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
28076346 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28062851 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

DHX8 蛋白结构

S1

S1: S1 RNA binding domain (262 - 333)

DEAD

DEAD: DEAD/DEAH box helicase (573 - 721)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (809 - 895)

HA2

HA2: Helicase associated domain (HA2) (957 - 1046)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (1098 - 1179)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1220 a.a.
蛋白主名 其他名称

ATP-dependent RNA helicase DHX8

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)

DHX8 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
DHX8 Q14562 AQR Homo sapiens O60306
Anti Tag CoIP
33961781
种属内
DHX8 Q14562 ISY1 Homo sapiens Q9ULR0
Y2H
22365833
种属内
DHX8 Q14562 ZCCHC10 Homo sapiens Q8TBK6
Y2H
22365833
种属内
DHX8 Q14562 ISY1 Homo sapiens Q9ULR0
Anti Tag CoIP
22365833
种属内
DHX8 Q14562 AQR Homo sapiens O60306
Anti Tag CoIP
28514442
种属内
DHX8 Q14562 SRPK1 Homo sapiens Q96SB4
Anti Tag CoIP
33961781
种属内
DHX8 Q14562 SRPK2 Homo sapiens P78362
Anti Tag CoIP
33961781
种属内
DHX8 Q14562 SNW1 Homo sapiens Q13573
Anti Tag CoIP
33961781
种属内
DHX8 Q14562 SRPK1 Homo sapiens Q96SB4
Anti Tag CoIP
28514442
种属内
DHX8 Q14562 SRPK1 Homo sapiens Q96SB4
Protein Kinase Assay
23602568
种属内
DHX8 Q14562 SRPK2 Homo sapiens P78362
Protein Kinase Assay
23602568
种属内
DHX8 Q14562 SNW1 Homo sapiens Q13573
Anti Tag CoIP
28514442
种属内
DHX8 Q14562 ISY1 Homo sapiens Q9ULR0
Anti Tag CoIP
33961781
种属内
DHX8 Q14562 CHERP Homo sapiens Q8IWX8
Anti Tag CoIP
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
Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Developmental And Epileptic Encephalopathy 23

DEE23

Epileptic Encephalopathy, Early Infantile, 23

Eiee23

Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome

Epilepsy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome

Developmental And Epileptic Encephalopathy, 23

Early Infantile Epileptic Encephalopathy 23

Human Immunodeficiency Virus Type 1

Aids

Hiv/Aids

Aids, Delayed/Rapid Progression To

Hiv-1, Susceptibility To

Hiv-1 Viremia, Susceptibility To

Human Immunodeficiency Virus Type 1, Susceptibility To

Hiv-1

Aids, Slow Progression To

Rapid Progression To Aids From Hiv1 Infection

Hiv1 Infection, Resistance To

Hiv1 Infection

Hiv-1 Viremia

Aids, Resistance To

Aids, Rapid Progression To

Hiv/Aids, Susceptibility To

Hiv-1, Resistance To

Hiv1, Resistance To

Hiv1

Hiv-1 Disease, Delayed Progression Of

Hiv-1 Disease, Rapid Progression Of

Hiv Infection, Resistance To

Hiv Type 1, Susceptibility To

Hiv Type 1

Hiv-1 Infection

Human Immunodeficiency Virus I Infection

Acquired Immunodeficiency Syndrome

Hiv-Infection/Aids

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

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
Bos taurus DHX8 VGNC VGNC:28059
Mus musculus DHX8 MGD MGI:1306823
Macaca mulatta DHX8 VGNC VGNC:71765
Canis familiaris DHX8 VGNC VGNC:39952
Felis catus DHX8 VGNC VGNC:61487
Rattus norvegicus DHX8 RGD RGD:1310723