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

Gene ID: 8886, updated on 7-Apr-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
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Genomic context

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Location:
2q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (117814691..117832377)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (118247963..118265651)
105.20220307 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
  • 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. 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
  3. 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
  4. NOP132 is required for proper nucleolus localization of DEAD-box RNA helicase DDX47. Sekiguchi T, et al. Nucleic Acids Res, 2006. PMID 16963496, Free PMC Article
  5. Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Payne EM, et al. Blood, 2011 Jul 28. PMID 21653321, Free PMC Article

See all (142) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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)

Genotypes

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 RNA binding HDA PubMed 
enables RNA helicase 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 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_2023_10

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

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