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

    Gene ID: 1659, updated on 10-Dec-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See DHX8 in Genome Data Viewer
    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_000017.11Genomic 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    NEW Try the new Transcript table

    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_001302623.3NP_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:5571139
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd05684
      Location:265343
      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:263422
      RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]
    2. NM_001322216.2NP_001309145.1  ATP-dependent RNA helicase DHX8 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC068675, AC087650
      Conserved Domains (6) summary
      smart00487
      Location:286471
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:689771
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:307445
      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:470627
      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:168
      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:805904
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
    3. NM_001322217.2NP_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:172331
      RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]
      COG1643
      Location:4661128
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd05684
      Location:174252
      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_001322218.3NP_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:559744
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:9621044
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:580718
      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:743900
      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:263341
      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:10781145
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
    5. NM_001322219.2NP_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:561746
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:9641046
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:582720
      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:745902
      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:265343
      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:10801151
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
    6. NM_001322220.3NP_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:263422
      RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]
      COG1643
      Location:5571139
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd05684
      Location:265343
      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:2592
      GH2-like_DHX8; GIPC-homology 2 (GH2)-like domain found in DEAH box protein 8 (DHX8) and similar proteins
    7. NM_001322221.2NP_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:5551217
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd05684
      Location:263341
      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:261420
      RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]
    8. NM_004941.3NP_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:263422
      RpsA; Ribosomal protein S1 [Translation, ribosomal structure and biogenesis]
      COG1643
      Location:5571219
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd05684
      Location:265343
      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:2592
      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_2024_08

    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)