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

Gene ID: 22907, updated on 4-Jan-2025

Summary

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

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

General gene information

Clone Names

  • FLJ11214, KIAA0890

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables ATP hydrolysis activity  
enables ATP-dependent H2AZ histone chaperone activity  
enables ATP-dependent H3-H4 histone complex chaperone activity  
enables DNA clamp loader activity  
enables DNA helicase activity  
enables G-quadruplex RNA binding  
enables RNA binding PubMed 
enables RNA binding PubMed 
enables RNA helicase activity  
enables RNA helicase activity PubMed 
enables chromatin binding PubMed 
enables chromatin extrusion motor activity  
enables cohesin loader activity  
enables double-stranded RNA binding PubMed 
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in DNA duplex unwinding  
involved_in central nervous system development  
involved_in chromatin looping  
involved_in chromatin remodeling  
involved_in mitochondrial large ribosomal subunit assembly PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol  
located_in mitochondrial matrix PubMed 
located_in mitochondrial nucleoid PubMed 
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
is_active_in nucleus  
located_in ribonucleoprotein granule PubMed 

General protein information

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_001330990.2NP_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:3951044
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  2. NM_014966.4NP_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:3841033
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  3. NM_138615.3NP_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:4231072
    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_006713033.2XP_006713096.1  ATP-dependent RNA helicase DHX30 isoform X4

    Conserved Domains (1) summary
    COG1643
    Location:3911040
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  2. XM_011533494.4XP_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:4231072
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  3. XM_047447728.1XP_047303684.1  ATP-dependent RNA helicase DHX30 isoform X1

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

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

    Conserved Domains (1) summary
    COG1643
    Location:4571106
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  6. XM_047447729.1XP_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_054345718.1XP_054201693.1  ATP-dependent RNA helicase DHX30 isoform X4

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

    UniProtKB/Swiss-Prot
    A8K5F1, O94965, Q7L2E3, Q7Z753, Q96CH4, Q9NUQ0
  3. XM_054345716.1XP_054201691.1  ATP-dependent RNA helicase DHX30 isoform X2

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

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