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DHX30 DExH-box helicase 30 [ Homo sapiens (human) ]

Gene ID: 22907, updated on 7-Apr-2024

Summary

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Official Symbol
DHX30provided by HGNC
Official Full Name
DExH-box helicase 30provided by HGNC
Primary source
HGNC:HGNC:16716
See related
Ensembl:ENSG00000132153 MIM:616423; AllianceGenome:HGNC:16716
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
DDX30; RETCOR; NEDMIAL
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. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Expression
Broad expression in testis (RPKM 30.7), brain (RPKM 11.0) and 25 other tissues See more
Orthologs
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Genomic context

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See DHX30 in Genome Data Viewer
Location:
3p21.31
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47803138..47850193)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47830461..47877524)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47844628..47891683)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:47710070-47710273 Neighboring gene small nucleolar RNA, C/D box 146 Neighboring gene HIGD2A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14313 Neighboring gene Sharpr-MPRA regulatory region 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:47844773-47845298 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:47846226-47846422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47859072-47859572 Neighboring gene MPRA-validated peak4635 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:47879089-47879907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:47883235-47883741 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:47888661-47888762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:47893749-47894266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47912431-47912931 Neighboring gene microRNA 1226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19820 Neighboring gene microtubule associated protein 4 Neighboring gene MPRA-validated peak4636 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14319 Neighboring gene VPS26B pseudogene 1 Neighboring gene ribosomal protein S27 pseudogene 30

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. DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review. Park EG, et al. Ann Clin Lab Sci, 2023 Mar. PMID 37094863
  2. De novo pathogenic DHX30 variants in two cases. Miyake N, et al. Clin Genet, 2021 Sep. PMID 34180050
  3. In pursuit of synthetic modulators for the orphan retina-specific nuclear receptor NR2E3. Qin Q, et al. J Ocul Pharmacol Ther, 2013 Apr. PMID 23098562, Free PMC Article
  4. The packaging of human immunodeficiency virus type 1 RNA is restricted by overexpression of an RNA helicase DHX30. Zhou Y, et al. Virology, 2008 Mar 1. PMID 18022663
  5. Human mitochondrial DNA nucleoids are linked to protein folding machinery and metabolic enzymes at the mitochondrial inner membrane. Wang Y, et al. J Biol Chem, 2006 Sep 1. PMID 16825194

See all (179) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.
    Title: DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.
  2. Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates.
    Title: Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates.
  3. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
    Title: Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
  4. De novo pathogenic DHX30 variants in two cases.
    Title: De novo pathogenic DHX30 variants in two cases.
  5. Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30.
    Title: Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30.
  6. A double-stranded RNA is required for the interaction between a host restriction factor DHX30 and the NS1 protein of influenza A virus.
    Title: A double-stranded RNA platform is required for the interaction between a host restriction factor and the NS1 protein of influenza A virus.
  7. Provide molecular insight into how DHX30 dysfunction might cause a neurodevelopmental disorder.
    Title: De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. Identifies DHX30 as a nucleoid protein.
    Title: The layered structure of human mitochondrial DNA nucleoids.
  10. Here, we provide evidence that overexpression of an RNA helicase named DHX30 enhances HIV-1 gene expression, but leads to the generation of viruses that package significantly low levels of viral RNA and exhibit severely decreased infectivity.
    Title: The packaging of human immunodeficiency virus type 1 RNA is restricted by overexpression of an RNA helicase DHX30.
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

Associated conditions

Description Tests
Neurodevelopmental disorder with severe motor impairment and absent language
MedGen: C4540496 OMIM: 617804 GeneReviews: Not available
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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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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11214, KIAA0890

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 DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables G-quadruplex RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA binding HDA PubMed 
enables RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
  
involved_in central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in mitochondrial large ribosomal subunit assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm 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 mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ATP-dependent RNA helicase DHX30
Names
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30
DEAH (Asp-Glu-Ala-His) box helicase 30
DEAH (Asp-Glu-Ala-His) box polypeptide 30
DEAH box protein 30
DEAH-box helicase 30
putative ATP-dependent RNA helicase DHX30
retina co-repressor
NP_001317919.1
NP_055781.2
NP_619520.1
XP_006713096.1
XP_011531796.1
XP_024309173.1
XP_047303683.1
XP_047303684.1
XP_047303685.1
XP_054201690.1
XP_054201691.1
XP_054201692.1
XP_054201693.1

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_001330990.2 → NP_001317919.1  ATP-dependent RNA helicase DHX30 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 4, which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC026318, AC139667
    Consensus CDS
    CCDS87074.1
    UniProtKB/TrEMBL
    H7BXY3
    Related
    ENSP00000343442.4, ENST00000348968.8
    Conserved Domains (1) summary
    COG1643
    Location:395 → 1044
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

  2. NM_014966.4 → NP_055781.2  ATP-dependent RNA helicase DHX30 isoform 2

    See identical proteins and their annotated locations for NP_055781.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and uses an alternate translational start codon, compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC015029, BC047335
    UniProtKB/Swiss-Prot
    Q7L2E3
    Related
    ENSP00000483160.1, ENST00000619982.4
    Conserved Domains (1) summary
    COG1643
    Location:384 → 1033
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

  3. NM_138615.3 → NP_619520.1  ATP-dependent RNA helicase DHX30 isoform 1

    See identical proteins and their annotated locations for NP_619520.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB020697, BC047335, CD368247
    Consensus CDS
    CCDS2759.1
    UniProtKB/Swiss-Prot
    A8K5F1, O94965, Q7L2E3, Q7Z753, Q96CH4, Q9NUQ0
    Related
    ENSP00000405620.1, ENST00000445061.6
    Conserved Domains (1) summary
    COG1643
    Location:423 → 1072
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

RNA

  1. NR_075079.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several 3' exons but includes an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks any significant ORFs that are likely to produce a protein product.
    Source sequence(s)
    AC026318, BC047335, BC063510
    Related
    ENST00000472718.5

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    47803138..47850193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713033.2 → XP_006713096.1  ATP-dependent RNA helicase DHX30 isoform X4

    Conserved Domains (1) summary
    COG1643
    Location:391 → 1040
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

  2. XM_011533494.4 → XP_011531796.1  ATP-dependent RNA helicase DHX30 isoform X3

    See identical proteins and their annotated locations for XP_011531796.1

    UniProtKB/Swiss-Prot
    A8K5F1, O94965, Q7L2E3, Q7Z753, Q96CH4, Q9NUQ0
    Conserved Domains (1) summary
    COG1643
    Location:423 → 1072
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

  3. XM_047447728.1 → XP_047303684.1  ATP-dependent RNA helicase DHX30 isoform X1

  4. XM_047447727.1 → XP_047303683.1  ATP-dependent RNA helicase DHX30 isoform X1

  5. XM_024453405.2 → XP_024309173.1  ATP-dependent RNA helicase DHX30 isoform X2

    Conserved Domains (1) summary
    COG1643
    Location:457 → 1106
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

  6. XM_047447729.1 → XP_047303685.1  ATP-dependent RNA helicase DHX30 isoform X1

    Related
    ENSP00000394682.1, ENST00000457607.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    47830461..47877524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345718.1 → XP_054201693.1  ATP-dependent RNA helicase DHX30 isoform X4

  2. XM_054345717.1 → XP_054201692.1  ATP-dependent RNA helicase DHX30 isoform X3

    UniProtKB/Swiss-Prot
    A8K5F1, O94965, Q7L2E3, Q7Z753, Q96CH4, Q9NUQ0

  3. XM_054345716.1 → XP_054201691.1  ATP-dependent RNA helicase DHX30 isoform X2

  4. XM_054345715.1 → XP_054201690.1  ATP-dependent RNA helicase DHX30 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138614.1: Suppressed sequence

    Description
    NM_138614.1: 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
Q7L2E3.1 GenPept UniProtKB/Swiss-Prot:Q7L2E3

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