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

Gene ID: 9704, updated on 3-Nov-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
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Genomic context

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See DHX34 in Genome Data Viewer
Location:
19q13.32
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47349315..47382704)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (50174779..50208160)
RS_2024_09 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 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 (35) 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
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_2024_08

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
    Related
    ENSP00000520696.1, ENST00000718252.1
    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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