DHX8 DEAH-box helicase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHX8provided by HGNC
Official Full Name: DEAH-box helicase 8provided by HGNC
Primary source: HGNC:HGNC:2749
See related: Ensembl:ENSG00000067596 MIM:600396; AllianceGenome:HGNC:2749
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DDX8; Dhr2; HRH1; PRP22; PRPF22
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]
Expression: Ubiquitous expression in bone marrow (RPKM 10.3), testis (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (43483975..43544799)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (44336445..44397274)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (41561343..41622167)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human gastric cancer progression and stabilization of ATG2B through RNF5 binding facilitated by autophagy-associated CircDHX8.
Title: Human gastric cancer progression and stabilization of ATG2B through RNF5 binding facilitated by autophagy-associated CircDHX8.
Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.
Title: Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.
This study provides an in-depth understanding of the activity of DHX8 and contributes insights into the RNA-unwinding mechanisms of the DEAH-box helicase family.
Title: Structural and functional characterisation of human RNA helicase DHX8 provides insights into the mechanism of RNA-stimulated ADP release.
The copy number variation initially recognized as duplication of exon 1-19 of the BRCA1 gene by MLPA analysis is a structural variation with breakpoints in the BRCA1 and DHX8 genes.
Title: A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
cellular complexes comprising cactin, DHX8 and SRRM2 sustain precise chromosome segregation, genome stability and cell proliferation by allowing faithful splicing of specific pre-mRNAs.
Title: Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.
structural and functional analysis of C-terminal domain of the spliceosomal helicase Prp22
Title: Structural analysis of the C-terminal domain of the spliceosomal helicase Prp22.
Preliminary X-ray diffraction analysis of the crystals of the C-terminal domain of the human DExD/H-box protein hPrp22 at 2.1 A resolution, is reported.
Title: Crystallization and preliminary X-ray diffraction analysis of the C-terminal domain of the human spliceosomal DExD/H-box protein hPrp22.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB1920 (e-PCR)
- UniSTS:44297

L18196 (e-PCR)
- UniSTS:51721

RH94131 (e-PCR)
- UniSTS:87067

D17S1234 (e-PCR)
- UniSTS:149847

D17S1200 (e-PCR)
- UniSTS:57547

SHGC-148771 (e-PCR)
- UniSTS:176598

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent activity, acting on RNA	TAS Traceable Author Statement more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA processing	TAS Traceable Author Statement more info	PubMed
involved_in RNA splicing	TAS Traceable Author Statement more info	PubMed
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of U2-type catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ATP-dependent RNA helicase DHX8

Names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase); DEAH (Asp-Glu-Ala-His) box polypeptide 8; DEAH box protein 8; RNA helicase HRH1

NP_001289552.1

EC 3.6.4.13

NP_001309145.1

EC 3.6.4.13

NP_001309146.1

EC 3.6.4.13

NP_001309147.1

EC 3.6.4.13

NP_001309148.1

EC 3.6.4.13

NP_001309149.1

EC 3.6.4.13

NP_001309150.1

EC 3.6.4.13

NP_004932.1

EC 3.6.4.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001302623.3 → NP_001289552.1 ATP-dependent RNA helicase DHX8 isoform 2

See identical proteins and their annotated locations for NP_001289552.1

Status: REVIEWED

Source sequence(s)

AK303319, BC038223, BE890949, D50487

Consensus CDS

CCDS77040.1

UniProtKB/TrEMBL

B7Z8F4, F5H658

Related

ENSP00000437886.1, ENST00000540306.5

Conserved Domains (3) summary

COG1643
Location:557 → 1139

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd05684
Location:265 → 343

S1_DHX8_helicase; S1_DHX8_helicase: The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced ...

cl28253
Location:263 → 422

RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]
NM_001322216.2 → NP_001309145.1 ATP-dependent RNA helicase DHX8 isoform 3

Status: REVIEWED

Source sequence(s)

AC068675, AC087650

Conserved Domains (6) summary

smart00487
Location:286 → 471

DEXDc; DEAD-like helicases superfamily

smart00847
Location:689 → 771

HA2; Helicase associated domain (HA2) Add an annotation

cd00046
Location:307 → 445

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:470 → 627

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd05684
Location:1 → 68

S1_DHX8_helicase; S1_DHX8_helicase: The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced ...

pfam07717
Location:805 → 904

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
NM_001322217.2 → NP_001309146.1 ATP-dependent RNA helicase DHX8 isoform 4

Status: REVIEWED

Source sequence(s)

AC068675, AC087650

UniProtKB/TrEMBL

Q86YB2

Conserved Domains (3) summary

COG0539
Location:172 → 331

RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]

COG1643
Location:466 → 1128

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd05684
Location:174 → 252

S1_DHX8_helicase; The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced mRNA by releasing ...
NM_001322218.3 → NP_001309147.1 ATP-dependent RNA helicase DHX8 isoform 5

Status: REVIEWED

Source sequence(s)

AC068675, AC087650

UniProtKB/TrEMBL

B7Z8F4

Conserved Domains (6) summary

smart00487
Location:559 → 744

DEXDc; DEAD-like helicases superfamily

smart00847
Location:962 → 1044

HA2; Helicase associated domain (HA2) Add an annotation

cd00046
Location:580 → 718

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:743 → 900

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd05684
Location:263 → 341

S1_DHX8_helicase; S1_DHX8_helicase: The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced ...

pfam07717
Location:1078 → 1145

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
NM_001322219.2 → NP_001309148.1 ATP-dependent RNA helicase DHX8 isoform 6

Status: REVIEWED

Source sequence(s)

AC068675, AC087650

Consensus CDS

CCDS92330.1

UniProtKB/TrEMBL

B7Z8F4, K7END7

Related

ENSP00000466900.2, ENST00000589898.2

Conserved Domains (6) summary

smart00487
Location:561 → 746

DEXDc; DEAD-like helicases superfamily

smart00847
Location:964 → 1046

HA2; Helicase associated domain (HA2) Add an annotation

cd00046
Location:582 → 720

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:745 → 902

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd05684
Location:265 → 343

S1_DHX8_helicase; S1_DHX8_helicase: The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced ...

pfam07717
Location:1080 → 1151

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
NM_001322220.3 → NP_001309149.1 ATP-dependent RNA helicase DHX8 isoform 7

Status: REVIEWED

Source sequence(s)

AC068675, AC087650

UniProtKB/TrEMBL

B7Z8F4

Conserved Domains (4) summary

COG0539
Location:263 → 422

RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]

COG1643
Location:557 → 1139

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd05684
Location:265 → 343

S1_DHX8_helicase; The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced mRNA by releasing ...

cd21691
Location:25 → 92

GH2-like_DHX8; GIPC-homology 2 (GH2)-like domain found in DEAH box protein 8 (DHX8) and similar proteins
NM_001322221.2 → NP_001309150.1 ATP-dependent RNA helicase DHX8 isoform 8

Status: REVIEWED

Source sequence(s)

AC068675, AC087650

UniProtKB/TrEMBL

Q86YB2

Conserved Domains (3) summary

COG1643
Location:555 → 1217

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd05684
Location:263 → 341

S1_DHX8_helicase; S1_DHX8_helicase: The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced ...

cl28253
Location:261 → 420

RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]
NM_004941.3 → NP_004932.1 ATP-dependent RNA helicase DHX8 isoform 1

See identical proteins and their annotated locations for NP_004932.1

Status: REVIEWED

Description

Transcript Variant: .

Source sequence(s)

AC068675, BC044586, D50487

Consensus CDS

CCDS11464.1

UniProtKB/Swiss-Prot

Q14562

UniProtKB/TrEMBL

Q86YB2

Related

ENSP00000262415.2, ENST00000262415.8

Conserved Domains (4) summary

COG0539
Location:263 → 422

RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]

COG1643
Location:557 → 1219

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd05684
Location:265 → 343

S1_DHX8_helicase; The N-terminal S1 domain of human ATP-dependent RNA helicase DHX8, a DEAH (Asp-Glu-Ala-His) box polypeptide. The DEAH-box RNA helicases are thought to play key roles in pre-mRNA splicing and DHX8 facilitates nuclear export of spliced mRNA by releasing ...

cd21691
Location:25 → 92

GH2-like_DHX8; GIPC-homology 2 (GH2)-like domain found in DEAH box protein 8 (DHX8) and similar proteins

RNA

NR_136225.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068675, AC087650
NR_136226.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068675, AC087650
NR_136227.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068675, AC087650
NR_136228.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068675, AC087650