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

    Gene ID: 22907, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47803138..47850193)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47830461..47877524)
    RS_2024_09 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 BAF chromatin remodeling complex subunit C1 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. 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
    2. De novo pathogenic DHX30 variants in two cases. Miyake N, et al. Clin Genet, 2021 Sep. PMID 34180050
    3. 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
    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. 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

    See all (211) 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 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 DNA clamp loader 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 chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    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
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP 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_2024_08

    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

    Gene LinkOut

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

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