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

DHX8 - DEAH-box helicase 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DDX8; Dhr2; HRH1; PRP22; PRPF22

Gene ID: 1659 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
22365833 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16820410 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
28076346 GOA
Cellular Component GO Annotation Evidence Reference Source
part of U2-type catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
28076346 GOA
part of catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
11991638 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28062851 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHX8 Protein Structure

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)

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  • 1220 a.a.
Protein Preferred Names Protein Names

ATP-dependent RNA helicase DHX8

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

DHX8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
DHX8 Q14562 AQR Homo sapiens O60306
Anti Tag CoIP
33961781
Intra
DHX8 Q14562 ISY1 Homo sapiens Q9ULR0
Y2H
22365833
Intra
DHX8 Q14562 ZCCHC10 Homo sapiens Q8TBK6
Y2H
22365833
Intra
DHX8 Q14562 ISY1 Homo sapiens Q9ULR0
Anti Tag CoIP
22365833
Intra
DHX8 Q14562 AQR Homo sapiens O60306
Anti Tag CoIP
28514442
Intra
DHX8 Q14562 SRPK1 Homo sapiens Q96SB4
Anti Tag CoIP
33961781
Intra
DHX8 Q14562 SRPK2 Homo sapiens P78362
Anti Tag CoIP
33961781
Intra
DHX8 Q14562 SNW1 Homo sapiens Q13573
Anti Tag CoIP
33961781
Intra
DHX8 Q14562 SRPK1 Homo sapiens Q96SB4
Anti Tag CoIP
28514442
Intra
DHX8 Q14562 SRPK1 Homo sapiens Q96SB4
Protein Kinase Assay
23602568
Intra
DHX8 Q14562 SRPK2 Homo sapiens P78362
Protein Kinase Assay
23602568
Intra
DHX8 Q14562 SNW1 Homo sapiens Q13573
Anti Tag CoIP
28514442
Intra
DHX8 Q14562 ISY1 Homo sapiens Q9ULR0
Anti Tag CoIP
33961781
Intra
DHX8 Q14562 CHERP Homo sapiens Q8IWX8
Anti Tag CoIP
22365833
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03760 DHX8 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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