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

Gene ID: 22907, updated on 7-Jun-2020

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
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

Genomic context

See DHX30 in Genome Data Viewer
Location:
3p21.31
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (47802909..47850196)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47844399..47891686)

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 HIGD2A pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 56 Neighboring gene microRNA 1226 Neighboring gene microtubule associated protein 4 Neighboring gene VPS26B pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 664, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11214, KIAA0890

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial large ribosomal subunit assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
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_011531792.1
XP_011531796.1
XP_011531797.1
XP_011531799.1
XP_011531800.1
XP_016861403.1
XP_016861404.1
XP_016861405.1
XP_016861406.1
XP_024309173.1

NCBI Reference Sequences (RefSeq)

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_001330990.1NP_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 (5) summary
    smart00490
    Location:658757
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:410589
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:829912
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:424565
    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:9521074
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  2. NM_014966.3NP_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, CD368247
    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
    Q7L2E3
    UniProtKB/TrEMBL
    A0A024R2T6
    Related
    ENSP00000405620.1, ENST00000445061.6
    Conserved Domains (5) summary
    smart00490
    Location:686785
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:438617
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:857940
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:452593
    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:9801102
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

RNA

  1. NR_075079.2 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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    47802909..47850196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713033.1XP_006713096.1  ATP-dependent RNA helicase DHX30 isoform X6

    Conserved Domains (5) summary
    smart00490
    Location:654753
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:406585
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:825908
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:420561
    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:9481070
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  2. XM_011533490.2XP_011531792.1  ATP-dependent RNA helicase DHX30 isoform X1

    See identical proteins and their annotated locations for XP_011531792.1

    Related
    ENSP00000394682.1, ENST00000457607.1
    Conserved Domains (5) summary
    smart00490
    Location:757856
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:509688
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:9281011
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:523664
    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:10511173
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  3. XM_017005916.2XP_016861405.1  ATP-dependent RNA helicase DHX30 isoform X7

  4. XM_017005917.1XP_016861406.1  ATP-dependent RNA helicase DHX30 isoform X8

    UniProtKB/Swiss-Prot
    Q7L2E3
    Conserved Domains (1) summary
    COG1643
    Location:3841033
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  5. XM_011533497.2XP_011531799.1  ATP-dependent RNA helicase DHX30 isoform X5

    See identical proteins and their annotated locations for XP_011531799.1

    UniProtKB/TrEMBL
    H7BXY3
    Conserved Domains (5) summary
    smart00490
    Location:658757
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:410589
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:829912
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:424565
    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:9521074
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  6. XM_017005914.1XP_016861403.1  ATP-dependent RNA helicase DHX30 isoform X2

  7. XM_011533495.2XP_011531797.1  ATP-dependent RNA helicase DHX30 isoform X4

    See identical proteins and their annotated locations for XP_011531797.1

    UniProtKB/Swiss-Prot
    Q7L2E3
    UniProtKB/TrEMBL
    A0A024R2T6
    Conserved Domains (5) summary
    smart00490
    Location:686785
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:438617
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:857940
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:452593
    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:9801102
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  8. XM_017005915.1XP_016861404.1  ATP-dependent RNA helicase DHX30 isoform X6

    Conserved Domains (5) summary
    smart00490
    Location:654753
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:406585
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:825908
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:420561
    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:9481070
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  9. XM_011533498.1XP_011531800.1  ATP-dependent RNA helicase DHX30 isoform X5

    See identical proteins and their annotated locations for XP_011531800.1

    UniProtKB/TrEMBL
    H7BXY3
    Conserved Domains (5) summary
    smart00490
    Location:658757
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:410589
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:829912
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:424565
    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:9521074
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  10. XM_011533494.3XP_011531796.1  ATP-dependent RNA helicase DHX30 isoform X4

    See identical proteins and their annotated locations for XP_011531796.1

    UniProtKB/Swiss-Prot
    Q7L2E3
    UniProtKB/TrEMBL
    A0A024R2T6
    Conserved Domains (5) summary
    smart00490
    Location:686785
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:438617
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:857940
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:452593
    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:9801102
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  11. XM_024453405.1XP_024309173.1  ATP-dependent RNA helicase DHX30 isoform X3

    Conserved Domains (1) summary
    COG1643
    Location:4571106
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

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.
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