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

Gene ID: 1659, updated on 23-Mar-2024

Summary

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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

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See DHX8 in Genome Data Viewer
Location:
17q21.31
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43483975..43544799)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44336445..44397274)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41561343..41622167)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 971, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41561036-41561878 Neighboring gene U7 small nuclear RNA Neighboring gene ribosomal protein L29 pseudogene 31 Neighboring gene Sharpr-MPRA regulatory region 5739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41605963-41606504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41617770-41618270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:41622297-41623074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41623075-41623852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12244 Neighboring gene ETS variant transcription factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41632016-41632516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12245 Neighboring gene Sharpr-MPRA regulatory region 2376 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41656377-41656994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41669551-41670050 Neighboring gene uncharacterized LOC124904008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41705361-41705862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41729461-41729960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41738043-41738584 Neighboring gene mesenchyme homeobox 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Structural and functional characterisation of human RNA helicase DHX8 provides insights into the mechanism of RNA-stimulated ADP release. Felisberto-Rodrigues C, et al. Biochem J, 2019 Sep 13. PMID 31409651
  2. Crystallization and preliminary X-ray diffraction analysis of the C-terminal domain of the human spliceosomal DExD/H-box protein hPrp22. Kudlinzki D, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2009 Sep 1. PMID 19724143, Free PMC Article
  3. A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. Ohno M, et al. Genes Dev, 1996 Apr 15. PMID 8608946
  4. A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome. Du C, et al. Breast Cancer Res Treat, 2018 Dec. PMID 30191368
  5. Structural analysis of the C-terminal domain of the spliceosomal helicase Prp22. Kudlinzki D, et al. Biol Chem, 2012 Sep 8. PMID 23096351

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
Submit: New GeneRIF Correction

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)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 activity, acting on RNA TAS
Traceable Author Statement
more info
  
enables RNA binding HDA 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 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 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
  
involved_in spliceosomal complex disassembly IBA
Inferred from Biological aspect of Ancestor
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
  
is_active_in intracellular anatomical structure IBA
Inferred from Biological aspect of Ancestor
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
NP_001309145.1
NP_001309146.1
NP_001309147.1
NP_001309148.1
NP_001309149.1
NP_001309150.1
NP_004932.1

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)

  1. 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]

  2. 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

  3. 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 ...

  4. 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

  5. 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

  6. 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

  7. 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]

  8. 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

  1. NR_136225.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068675, AC087650

  2. NR_136226.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068675, AC087650

  3. NR_136227.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068675, AC087650

  4. NR_136228.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068675, AC087650

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    43483975..43544799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44336445..44397274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14562.1 GenPept UniProtKB/Swiss-Prot:Q14562

Gene LinkOut

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