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DDX50 DExD-box helicase 50 [ Homo sapiens (human) ]

Gene ID: 79009, updated on 8-Jul-2021

Summary

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Official Symbol
DDX50provided by HGNC
Official Full Name
DExD-box helicase 50provided by HGNC
Primary source
HGNC:HGNC:17906
See related
Ensembl:ENSG00000107625 MIM:610373
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
GU2; GUB; mcdrh; RH-II/GuB
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 DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 10.4), thyroid (RPKM 9.2) and 25 other tissues See more
Orthologs
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Genomic context

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See DDX50 in Genome Data Viewer
Location:
10q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (68898817..68956312)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70661071..70706603)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cell division cycle and apoptosis regulator 1 Neighboring gene small nucleolar RNA, C/D box 98 Neighboring gene storkhead box 1 Neighboring gene RNA, U6 small nuclear 697, pseudogene Neighboring gene RNA, U6 small nuclear 571, pseudogene Neighboring gene DExD-box helicase 21 Neighboring gene mediator complex subunit 28 pseudogene 1 Neighboring gene kinesin family binding protein Neighboring gene ACTB pseudogene 14

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. DDX50 inhibits the replication of dengue virus 2 by upregulating IFN-β production. Han P, et al. Arch Virol, 2017 Jun. PMID 28181036
  2. Solution structure of the GUCT domain from human RNA helicase II/Gu beta reveals the RRM fold, but implausible RNA interactions. Ohnishi S, et al. Proteins, 2009 Jan. PMID 18615715
  3. Genomic structure of newly identified paralogue of RNA helicase II/Gu: detection of pseudogenes and multiple alternatively spliced mRNAs. Valdez BC, et al. Gene, 2002 Feb 6. PMID 11891046
  4. Characterization of Staufen 1 ribonucleoprotein complexes. Brendel C, et al. Biochem J, 2004 Dec 1. PMID 15303970, Free PMC Article
  5. Mixed Lineage Leukemia 5 (MLL5) Protein Stability Is Cooperatively Regulated by O-GlcNac Transferase (OGT) and Ubiquitin Specific Protease 7 (USP7). Ding X, et al. PLoS One, 2015. PMID 26678539, Free PMC Article

See all (88) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results provide evidence that DDX50 negatively regulates DENV-2 replication during the early stages of infection by inducing IFN-beta production.
    Title: DDX50 inhibits the replication of dengue virus 2 by upregulating IFN-β production.
  2. Solution structure of the GUCT domain from human RNA helicase II/Gu beta reveals the RRM fold, but implausible RNA interactions.
    Title: Solution structure of the GUCT domain from human RNA helicase II/Gu beta reveals the RRM fold, but implausible RNA interactions.
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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50) by siRNA inhibits HIV-1 replication in HeLa P4/R5 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

  • MGC3199

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 RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane HDA PubMed 
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
ATP-dependent RNA helicase DDX50
Names
DEAD (Asp-Glu-Ala-Asp) box polypeptide 50
DEAD box protein 50
DEAD-box helicase 50
RNA helicase II/Gu beta
gu-beta
malignant cell derived RNA helicase
nucleolar protein GU2
NP_076950.1
XP_005270205.1
XP_011538446.1
XP_016872115.1
XP_016872116.1
XP_016872117.1
XP_016872119.1
XP_024303930.1

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.

Genomic

  1. NG_050683.1 RefSeqGene

    Range
    7307..52876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024045.2 → NP_076950.1  ATP-dependent RNA helicase DDX50

    See identical proteins and their annotated locations for NP_076950.1

    Status: REVIEWED

    Source sequence(s)
    AL359844
    Consensus CDS
    CCDS7283.1
    UniProtKB/Swiss-Prot
    Q9BQ39
    Related
    ENSP00000362687.3, ENST00000373585.8
    Conserved Domains (3) summary
    COG0513
    Location:108 → 526
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:568 → 659
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins
    cd17944
    Location:148 → 349
    DEADc_DDX21_DDX50; DEAD-box helicase domain of DEAD box proteins 21 and 50

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    68898817..68956312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448162.1 → XP_024303930.1  ATP-dependent RNA helicase DDX50 isoform X2

    Conserved Domains (3) summary
    COG0513
    Location:43 → 461
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:503 → 594
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins
    cd17944
    Location:83 → 284
    DEADc_DDX21_DDX50; DEAD-box helicase domain of DEAD box proteins 21 and 50

  2. XM_011540144.2 → XP_011538446.1  ATP-dependent RNA helicase DDX50 isoform X2

    See identical proteins and their annotated locations for XP_011538446.1

    Conserved Domains (3) summary
    COG0513
    Location:43 → 461
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:503 → 594
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins
    cd17944
    Location:83 → 284
    DEADc_DDX21_DDX50; DEAD-box helicase domain of DEAD box proteins 21 and 50

  3. XM_017016626.1 → XP_016872115.1  ATP-dependent RNA helicase DDX50 isoform X1

    UniProtKB/Swiss-Prot
    Q9BQ39
    Conserved Domains (3) summary
    COG0513
    Location:108 → 526
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:568 → 659
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins
    cd17944
    Location:148 → 349
    DEADc_DDX21_DDX50; DEAD-box helicase domain of DEAD box proteins 21 and 50

  4. XM_005270148.2 → XP_005270205.1  ATP-dependent RNA helicase DDX50 isoform X2

    See identical proteins and their annotated locations for XP_005270205.1

    Conserved Domains (3) summary
    COG0513
    Location:43 → 461
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:503 → 594
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins
    cd17944
    Location:83 → 284
    DEADc_DDX21_DDX50; DEAD-box helicase domain of DEAD box proteins 21 and 50

  5. XM_017016630.1 → XP_016872119.1  ATP-dependent RNA helicase DDX50 isoform X3

    Conserved Domains (2) summary
    COG0513
    Location:1 → 232
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:274 → 365
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins

  6. XM_017016627.1 → XP_016872116.1  ATP-dependent RNA helicase DDX50 isoform X2

    Conserved Domains (3) summary
    COG0513
    Location:43 → 461
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:503 → 594
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins
    cd17944
    Location:83 → 284
    DEADc_DDX21_DDX50; DEAD-box helicase domain of DEAD box proteins 21 and 50

  7. XM_017016628.1 → XP_016872117.1  ATP-dependent RNA helicase DDX50 isoform X2

    Conserved Domains (3) summary
    COG0513
    Location:43 → 461
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd12936
    Location:503 → 594
    GUCT_RHII_Gualpha_beta; RNA-binding GUCT domain found in vertebrate RNA helicase II/Gualpha (RH-II/Gualpha), RNA helicase II/Gubeta (RH-II/Gubeta) and similar proteins
    cd17944
    Location:83 → 284
    DEADc_DDX21_DDX50; DEAD-box helicase domain of DEAD box proteins 21 and 50
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQ39.1 GenPept UniProtKB/Swiss-Prot:Q9BQ39

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