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    DDX27 DEAD-box helicase 27 [ Homo sapiens (human) ]

    Gene ID: 55661, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DDX27provided by HGNC
    Official Full Name
    DEAD-box helicase 27provided by HGNC
    Primary source
    HGNC:HGNC:15837
    See related
    Ensembl:ENSG00000124228 MIM:616621; AllianceGenome:HGNC:15837
    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
    DRS1; RHLP; Drs1p; PP3241; HSPC259; dJ686N3.1
    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 involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in testis (RPKM 18.7), lymph node (RPKM 16.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDX27 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49219416..49244073)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (50988932..51013575)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (47835953..47860610)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47663207-47663847 Neighboring gene chromosome segregation 1 like Neighboring gene ReSE screen-validated silencer GRCh37_chr20:47734294-47734451 Neighboring gene staufen double-stranded RNA binding protein 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47797000-47797528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47835541-47836266 Neighboring gene zinc finger NFX1-type containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18057 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47894170-47894670 Neighboring gene Sharpr-MPRA regulatory region 13855 Neighboring gene small nucleolar RNA, C/D box 12C Neighboring gene ZNFX1 antisense RNA 1

    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. DEAD-box helicase 27 enhances stem cell-like properties with poor prognosis in breast cancer. Li S, et al. J Transl Med, 2021 Aug 6. PMID 34362383, Free PMC Article
    2. DEAD-box Helicase 27 Promotes Hepatocellular Carcinoma Progression Through ERK Signaling. Xiaoqian W, et al. Technol Cancer Res Treat, 2021 Jan-Dec. PMID 34855554, Free PMC Article
    3. Expression of DDX27 contributes to colony-forming ability of gastric cancer cells and correlates with poor prognosis in gastric cancer. Tsukamoto Y, et al. Am J Cancer Res, 2015. PMID 26693055, Free PMC Article
    4. An integrative approach identified genes associated with drug response in gastric cancer. Zhou J, et al. Carcinogenesis, 2015 Apr. PMID 25742747
    5. DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L. Li G, et al. Life Sci, 2024 Mar 1. PMID 38301874

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L.
      Title: DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L.
    2. DEAD-box Helicase 27 Promotes Hepatocellular Carcinoma Progression Through ERK Signaling.
      Title: DEAD-box Helicase 27 Promotes Hepatocellular Carcinoma Progression Through ERK Signaling.
    3. DEAD-box helicase 27 enhances stem cell-like properties with poor prognosis in breast cancer.
      Title: DEAD-box helicase 27 enhances stem cell-like properties with poor prognosis in breast cancer.
    4. Data found that DDX27 expression is significantly up-regulated in colorectal cancer (CRC) at mRNA and protein levels. DDX27 mRNA overexpression was positively correlated with DNA copy number gain and associated with poor prognosis in CRC patients. Further evidences prove that DDX27 plays a pivotal oncogenic role in CRC.
      Title: DEAD-box helicase 27 promotes colorectal cancer growth and metastasis and predicts poor survival in CRC patients.
    5. The DDX27 can interact specifically with the Pes1 and Bop1 but fulfils critical function(s) for proper 3' end formation of 47S rRNA independently of the PeBoW-complex.
      Title: DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex.
    6. Levels of DDX27 mRNA and protein were increased in early-stage gastric tumors, and may be a potential diagnostic and prognostic marker for Gastric cancer.
      Title: An integrative approach identified genes associated with drug response in gastric cancer.
    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
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), 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 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), 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 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), 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 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), 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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1018, FLJ12917, FLJ20596, FLJ22238, MGC163147, DKFZp667N057

    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 rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 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
    probable ATP-dependent RNA helicase DDX27
    Names
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
    DEAD box protein 27
    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27
    Deficiency of ribosomal subunits protein 1 homolog
    RNA helicase-like protein
    NP_001335116.2
    NP_060365.8

    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_001348187.2 → NP_001335116.2  probable ATP-dependent RNA helicase DDX27 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL049766, AL357560
      UniProtKB/TrEMBL
      B3GQE6
      Conserved Domains (2) summary
      COG0513
      Location:188 → 674
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd17947
      Location:198 → 424
      DEADc_DDX27; DEAD-box helicase domain of DEAD box protein 27

    2. NM_017895.8 → NP_060365.8  probable ATP-dependent RNA helicase DDX27 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL049766, AL357560
      Consensus CDS
      CCDS13416.2
      UniProtKB/TrEMBL
      B3GQE6, B7Z6D5
      Related
      ENSP00000482680.1, ENST00000618172.5
      Conserved Domains (2) summary
      COG0513
      Location:188 → 643
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd17947
      Location:198 → 393
      DEADc_DDX27; DEAD-box helicase domain of DEAD box protein 27

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      49219416..49244073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      50988932..51013575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GQ7.2 GenPept UniProtKB/Swiss-Prot:Q96GQ7

    Gene LinkOut

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

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