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    DDX18 DEAD-box helicase 18 [ Homo sapiens (human) ]

    Gene ID: 8886, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DDX18provided by HGNC
    Official Full Name
    DEAD-box helicase 18provided by HGNC
    Primary source
    HGNC:HGNC:2741
    See related
    Ensembl:ENSG00000088205 MIM:606355; AllianceGenome:HGNC:2741
    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
    Has1; MrDb
    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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 23.5), thyroid (RPKM 21.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDX18 in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (117814691..117832377)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (118247963..118265651)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (118572267..118589953)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:117913522-117914022 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:117914023-117914523 Neighboring gene RNA, U7 small nuclear 190 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:118036121-118036969 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:118041429-118042061 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:118310958-118311548 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:118380535-118381734 Neighboring gene uncharacterized LOC124907878 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:118561637-118562220 Neighboring gene Sharpr-MPRA regulatory region 195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:118572589-118573124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11893 Neighboring gene uncharacterized LOC107985939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:118615796-118616748 Neighboring gene 5-hydroxytryptamine receptor 5B, pseudogene

    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 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. Cellular studies of MrDb (DDX18). Dubaele S, et al. Oncol Res, 2007. PMID 18351129
    2. DDX18 Facilitates the Tumorigenesis of Lung Adenocarcinoma by Promoting Cell Cycle Progression through the Upregulation of CDK4. Feng B, et al. Int J Mol Sci, 2024 May 1. PMID 38732173, Free PMC Article
    3. DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote proliferation of human head and neck squamous cell carcinoma. Guo C, et al. Cell Oncol (Dordr), 2023 Aug. PMID 36976498
    4. Myc-Max heterodimers activate a DEAD box gene and interact with multiple E box-related sites in vivo. Grandori C, et al. EMBO J, 1996 Aug 15. PMID 8861962, Free PMC Article
    5. Genomic interaction between ER and HMGB2 identifies DDX18 as a novel driver of endocrine resistance in breast cancer cells. Redmond AM, et al. Oncogene, 2015 Jul. PMID 25284587

    See all (166) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DDX18 Facilitates the Tumorigenesis of Lung Adenocarcinoma by Promoting Cell Cycle Progression through the Upregulation of CDK4.
      Title: DDX18 Facilitates the Tumorigenesis of Lung Adenocarcinoma by Promoting Cell Cycle Progression through the Upregulation of CDK4.
    2. DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote proliferation of human head and neck squamous cell carcinoma.
      Title: DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote proliferation of human head and neck squamous cell carcinoma.
    3. Data show that odulation of RNA helicase DDX18 directly affects growth of tamoxifen-resistant cells, suggesting that it may be a critical downstream effector of the estrogen receptors (ERs) and high mobility group box 2 (HMGB2) complex.
      Title: Genomic interaction between ER and HMGB2 identifies DDX18 as a novel driver of endocrine resistance in breast cancer cells.
    4. We identified 4 nonsynonymous sequence variants of DDX18 in acute myeloid leukemia patient samples
      Title: Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer.
    6. findings suggest that MrDb is important for cell proliferation and that its inhibition could prevent tumor cell proliferation.
      Title: Cellular studies of MrDb (DDX18).
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18) at amino acid residues 35-36 by the HIV-1 protease 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

    Clone Names

    • FLJ33908

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ATP-dependent RNA helicase DDX18
    Names
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 18
    DEAD box protein 18
    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)
    Helicase Associated with Set1 homolog
    Myc-regulated DEAD box protein
    NP_006764.3

    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_006773.4 → NP_006764.3  ATP-dependent RNA helicase DDX18

      See identical proteins and their annotated locations for NP_006764.3

      Status: REVIEWED

      Source sequence(s)
      AK091227, BC024739, BU599536
      Consensus CDS
      CCDS2120.1
      UniProtKB/Swiss-Prot
      Q6GTZ9, Q6IAU4, Q92732, Q9BQB7, Q9NVP1
      UniProtKB/TrEMBL
      Q4ZG72
      Related
      ENSP00000263239.2, ENST00000263239.7
      Conserved Domains (4) summary
      smart00487
      Location:194 → 382
      DEXDc; DEAD-like helicases superfamily
      cd00079
      Location:400 → 529
      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 ...
      cd00268
      Location:179 → 386
      DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...
      pfam13959
      Location:561 → 619
      DUF4217; Domain of unknown function (DUF4217)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      117814691..117832377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      118247963..118265651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVP1.2 GenPept UniProtKB/Swiss-Prot:Q9NVP1

    Gene LinkOut

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

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