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    DDX52 DExD-box helicase 52 [ Homo sapiens (human) ]

    Gene ID: 11056, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DDX52provided by HGNC
    Official Full Name
    DExD-box helicase 52provided by HGNC
    Primary source
    HGNC:HGNC:20038
    See related
    Ensembl:ENSG00000278053 MIM:612500; AllianceGenome:HGNC:20038
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ROK1; HUSSY19
    Summary
    Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.2), endometrium (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDX52 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (37609739..37643446, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38596713..38630405, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35969787..36003475, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:35851097-35851882 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:35867118-35867618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:35867619-35868119 Neighboring gene dual specificity phosphatase 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:35872759-35873272 Neighboring gene synergin gamma Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:35901785-35902984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35949209-35949710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35949711-35950210 Neighboring gene microRNA 378j Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36001021-36001522 Neighboring gene uncharacterized LOC105371756 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36057789-36058988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36060550-36061050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36061051-36061551 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36062200-36063399 Neighboring gene uncharacterized LOC124903989 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36068100-36068600 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:36070779-36071300 Neighboring gene HNF1 homeobox B Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36071301-36071822 Neighboring gene uncharacterized LOC105371754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36083205-36083705

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target. Xu M, et al. Sci Rep, 2023 Oct 13. PMID 37833424, Free PMC Article
    2. Knockdown of DEAD-box RNA helicase 52 (DDX52) suppresses the proliferation of melanoma cells in vitro and of nude mouse xenografts by targeting c-Myc. Wang Q, et al. Bioengineered, 2021 Dec. PMID 34233596, Free PMC Article
    3. Identification of RNA helicases in human immunodeficiency virus 1 (HIV-1) replication - a targeted small interfering RNA library screen using pseudotyped and WT HIV-1. Williams CA, et al. J Gen Virol, 2015 Jun. PMID 25701821, Free PMC Article
    4. Characterization of 16 novel human genes showing high similarity to yeast sequences. Stanchi F, et al. Yeast, 2001 Jan 15. PMID 11124703
    5. The ribosome biogenesis factor yUtp23/hUTP23 coordinates key interactions in the yeast and human pre-40S particle and hUTP23 contains an essential PIN domain. Wells GR, et al. Nucleic Acids Res, 2017 May 5. PMID 28082392, Free PMC Article

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target.
      Title: DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target.
    2. Knockdown of DEAD-box RNA helicase 52 (DDX52) suppresses the proliferation of melanoma cells in vitro and of nude mouse xenografts by targeting c-Myc.
      Title: Knockdown of DEAD-box RNA helicase 52 (DDX52) suppresses the proliferation of melanoma cells in vitro and of nude mouse xenografts by targeting c-Myc.
    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

    EBI GWAS Catalog

    Description
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    EBI GWAS Catalog

    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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    Replication interactions

    Interaction Pubs
    siRNA knockdown of DDX52 decreases intra- and extra-cellular HIV CA(p24) from HeLa cells transfected with env-deleted HIV-1 plasmid, a vesicular stomatitis virus glycoprotein plasmid and specific siRNA. Resulting HIV demonstrates decreased infectivity. PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag siRNA knockdown of DDX52 decreases intra- and extra-cellular HIV CA(p24) from HeLa cells transfected with env-deleted HIV-1 plasmid, a vesicular stomatitis virus glycoprotein plasmid and specific siRNA. Resulting HIV demonstrates decreased infectivity. PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 RNA binding HDA PubMed 
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maturation of SSU-rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    probable ATP-dependent RNA helicase DDX52
    Names
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 52
    DEAD box protein 52
    DEAD-box helicase 52
    NP_001278405.1
    NP_008941.3
    XP_011522535.1
    XP_054170786.1
    XP_054185203.1

    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_001291476.2 → NP_001278405.1  probable ATP-dependent RNA helicase DDX52 isoform 2

      See identical proteins and their annotated locations for NP_001278405.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC243585, AK001245, AK001652, AK025721, BX492013
      UniProtKB/TrEMBL
      B3KM65
      Conserved Domains (3) summary
      PRK11192
      Location:54 → 491
      PRK11192; ATP-dependent RNA helicase SrmB; Provisional
      cd00079
      Location:278 → 407
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cl21455
      Location:61 → 267
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_007010.5 → NP_008941.3  probable ATP-dependent RNA helicase DDX52 isoform 1

      See identical proteins and their annotated locations for NP_008941.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC243585, AK001245, AK025721, BC041785
      Consensus CDS
      CCDS11323.1
      UniProtKB/Swiss-Prot
      Q86YG1, Q8N213, Q9NVE0, Q9Y2R4, Q9Y482
      UniProtKB/TrEMBL
      Q59H21
      Related
      ENSP00000479504.1, ENST00000617633.5
      Conserved Domains (1) summary
      COG0513
      Location:136 → 599
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      37609739..37643446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524233.4 → XP_011522535.1  probable ATP-dependent RNA helicase DDX52 isoform X1

      UniProtKB/TrEMBL
      B3KM65
      Conserved Domains (3) summary
      COG0513
      Location:10 → 293
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd00079
      Location:146 → 275
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cl21455
      Location:6 → 135
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1848852..1882540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329228.1 → XP_054185203.1  probable ATP-dependent RNA helicase DDX52 isoform X1

      UniProtKB/TrEMBL
      B3KM65

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      38596713..38630405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314811.1 → XP_054170786.1  probable ATP-dependent RNA helicase DDX52 isoform X1

      UniProtKB/TrEMBL
      B3KM65

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152300.2: Suppressed sequence

      Description
      NM_152300.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2R4.4 GenPept UniProtKB/Swiss-Prot:Q9Y2R4

    Gene LinkOut

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

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