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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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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