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    DHX34 DExH-box helicase 34 [ Homo sapiens (human) ]

    Gene ID: 9704, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DHX34provided by HGNC
    Official Full Name
    DExH-box helicase 34provided by HGNC
    Primary source
    HGNC:HGNC:16719
    See related
    Ensembl:ENSG00000134815 MIM:615475; AllianceGenome:HGNC:16719
    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
    HRH1; DDX34
    Summary
    DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 9.0), bone marrow (RPKM 4.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47349315..47382704)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (50174779..50208160)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47852572..47885961)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47818477-47818672 Neighboring gene Sharpr-MPRA regulatory region 10427 Neighboring gene complement C5a receptor 1 Neighboring gene Sharpr-MPRA regulatory region 4678 Neighboring gene complement C5a receptor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47852412-47853316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47858319-47858818 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:47895565-47896211 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:47896212-47896859 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47901415-47902082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47905147-47905846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47905847-47906546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47906547-47907244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47920878-47921870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47921871-47922864 Neighboring gene Meis homeobox 3 Neighboring gene hESC enhancers GRCh37_chr19:47931091-47931659 and GRCh37_chr19:47931660-47932227 Neighboring gene Sharpr-MPRA regulatory region 169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47939851-47940352 Neighboring gene solute carrier family 8 member A2 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47945299-47945446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47949904-47950829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47971701-47972200 Neighboring gene Sharpr-MPRA regulatory region 3844

    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. A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation. Hug N, et al. RNA, 2022 Sep. PMID 35768279, Free PMC Article
    2. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Paine I, et al. Am J Hum Genet, 2019 Aug 1. PMID 31256877, Free PMC Article
    3. The RNA helicase DHX34 functions as a scaffold for SMG1-mediated UPF1 phosphorylation. Melero R, et al. Nat Commun, 2016 Feb 4. PMID 26841701, Free PMC Article
    4. Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM. López-Perrote A, et al. Elife, 2020 Nov 18. PMID 33205750, Free PMC Article
    5. A transcript map of the chromosome 19q-arm glioma tumor suppressor region. Smith JS, et al. Genomics, 2000 Feb 15. PMID 10708517

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation.
      Title: A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation.
    2. Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM.
      Title: Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM.
    3. Missense mutation in DHX34 gene is associated with neurodevelopmental disorder.
      Title: Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
    4. DHX34 activates nonsense-mediated mRNA decay by functioning as a scaffold for SMG1-mediated UPF1 phosphorylation via complex formation with SMG1 and UPF1.
      Title: The RNA helicase DHX34 functions as a scaffold for SMG1-mediated UPF1 phosphorylation.
    5. DHX34 promotes mRNP remodeling and triggers the conversion from the SURF complex to the DECID complex resulting in NMD activation.
      Title: The RNA helicase DHX34 activates NMD by promoting a transition from the surveillance to the decay-inducing complex.
    6. DHX34 and NBAS act in concert with core nonsense-mediated mRNA decay factors to co-regulate a large number of endogenous RNA targets.
      Title: DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0134

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear-transcribed mRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    probable ATP-dependent RNA helicase DHX34
    Names
    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34
    DEAH (Asp-Glu-Ala-His) box polypeptide 34
    DEAH box protein 34
    DEAH-box helicase 34
    probable ATP-dependent helicase DHX34
    NP_055496.2
    XP_005259500.1
    XP_011525852.1
    XP_011525853.1
    XP_047295715.1
    XP_047295716.1
    XP_047295717.1
    XP_047295718.1
    XP_054178724.1
    XP_054178725.1
    XP_054178726.1

    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_014681.6 → NP_055496.2  probable ATP-dependent RNA helicase DHX34

      See identical proteins and their annotated locations for NP_055496.2

      Status: REVIEWED

      Source sequence(s)
      AK297692, BI826597, BU732557, CF125648, CN307402, DR762320
      Consensus CDS
      CCDS12700.1
      UniProtKB/Swiss-Prot
      B4DMY8, Q14147
      Related
      ENSP00000331907.4, ENST00000328771.9
      Conserved Domains (5) summary
      smart00490
      Location:410 → 496
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:565 → 645
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:154 → 686
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:179 → 314
      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.
      pfam07717
      Location:791 → 911
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      47349315..47382704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439759.1 → XP_047295715.1  probable ATP-dependent RNA helicase DHX34 isoform X1

      UniProtKB/Swiss-Prot
      B4DMY8, Q14147

    2. XM_047439760.1 → XP_047295716.1  probable ATP-dependent RNA helicase DHX34 isoform X1

      UniProtKB/Swiss-Prot
      B4DMY8, Q14147

    3. XM_011527550.3 → XP_011525852.1  probable ATP-dependent RNA helicase DHX34 isoform X1

      See identical proteins and their annotated locations for XP_011525852.1

      UniProtKB/Swiss-Prot
      B4DMY8, Q14147
      Conserved Domains (5) summary
      smart00490
      Location:410 → 496
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:565 → 645
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:154 → 686
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:179 → 314
      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.
      pfam07717
      Location:791 → 911
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    4. XM_011527551.3 → XP_011525853.1  probable ATP-dependent RNA helicase DHX34 isoform X1

      See identical proteins and their annotated locations for XP_011525853.1

      UniProtKB/Swiss-Prot
      B4DMY8, Q14147
      Conserved Domains (5) summary
      smart00490
      Location:410 → 496
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:565 → 645
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:154 → 686
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:179 → 314
      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.
      pfam07717
      Location:791 → 911
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    5. XM_005259443.4 → XP_005259500.1  probable ATP-dependent RNA helicase DHX34 isoform X1

      See identical proteins and their annotated locations for XP_005259500.1

      UniProtKB/Swiss-Prot
      B4DMY8, Q14147
      Conserved Domains (5) summary
      smart00490
      Location:410 → 496
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:565 → 645
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:154 → 686
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:179 → 314
      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.
      pfam07717
      Location:791 → 911
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    6. XM_047439761.1 → XP_047295717.1  probable ATP-dependent RNA helicase DHX34 isoform X2

    7. XM_047439762.1 → XP_047295718.1  probable ATP-dependent RNA helicase DHX34 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      50174779..50208160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322750.1 → XP_054178725.1  probable ATP-dependent RNA helicase DHX34 isoform X2

    2. XM_054322749.1 → XP_054178724.1  probable ATP-dependent RNA helicase DHX34 isoform X1

    3. XM_054322751.1 → XP_054178726.1  probable ATP-dependent RNA helicase DHX34 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_194428.1: Suppressed sequence

      Description
      NM_194428.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14147.2 GenPept UniProtKB/Swiss-Prot:Q14147

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