DHX8 - DEAH-box helicase 8 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1659

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 References 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 References Source
involved in mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
28076346 GOA
Cellular Component GO Annotation Evidence References 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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 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 References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-185458 DHX8-IN-1 Inhibitor / Unkown
HY-RS03760 DHX8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W130214 2-Phenoxynicotinic acid Inhibitor 99.14% 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
Others DHX8 NCBI