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 fami... See more...

Aliases for DDX27 Gene

Aliases for DDX27 Gene

  • DEAD-Box Helicase 27 2 3 5
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 27 2 3
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 27 2 3
  • Probable ATP-Dependent RNA Helicase DDX27 3 4
  • DEAD Box Protein 27 3 4
  • DJ686N3.1 2 3
  • DRS1 2 3
  • RHLP 3 4
  • Deficiency Of Ribosomal Subunits Protein 1 Homolog 3
  • RNA Helicase-Like Protein 3
  • EC 3.6.4.13 4
  • EC 3.6.1 51
  • HSPC259 3
  • CPERP-F 4
  • PP3241 3
  • Drs1p 3
  • DDX27 5

External Ids for DDX27 Gene

Previous GeneCards Identifiers for DDX27 Gene

  • GC20P047564
  • GC20P048474
  • GC20P048521
  • GC20P047269
  • GC20P047835
  • GC20P044584

Summaries for DDX27 Gene

Entrez Gene Summary for DDX27 Gene

  • 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]

GeneCards Summary for DDX27 Gene

DDX27 (DEAD-Box Helicase 27) is a Protein Coding gene. Diseases associated with DDX27 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 and Autosomal Recessive Distal Hereditary Motor Neuronopathy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is DDX54.

UniProtKB/Swiss-Prot Summary for DDX27 Gene

  • Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA (PubMed:25825154).

Gene Wiki entry for DDX27 Gene

Additional gene information for DDX27 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX27 Gene

Genomics for DDX27 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDX27 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDX27 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX27

Top Transcription factor binding sites by QIAGEN in the DDX27 gene promoter:
  • AP-1
  • ATF6
  • c-Fos
  • c-Jun
  • GR
  • GR-alpha
  • GR-beta
  • HNF-4alpha1
  • HNF-4alpha2
  • SEF-1 (1)

Genomic Locations for DDX27 Gene

Genomic Locations for DDX27 Gene
chr20:49,219,295-49,244,077
(GRCh38/hg38)
Size:
24,783 bases
Orientation:
Plus strand
chr20:47,835,832-47,860,614
(GRCh37/hg19)
Size:
24,783 bases
Orientation:
Plus strand

Genomic View for DDX27 Gene

Genes around DDX27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX27 Gene

Proteins for DDX27 Gene

  • Protein details for DDX27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GQ7-DDX27_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX27
    Protein Accession:
    Q96GQ7
    Secondary Accessions:
    • A0AVB6
    • B7ZLY1
    • Q5VXM7
    • Q8WYG4
    • Q969N7
    • Q96F57
    • Q96L97
    • Q9BWY9
    • Q9BXF0
    • Q9H990
    • Q9NWU3
    • Q9P0C2
    • Q9UGD6

    Protein attributes for DDX27 Gene

    Size:
    796 amino acids
    Molecular mass:
    89835 Da
    Quaternary structure:
    • Associates with PeBoW complex, composed of BOP1, PES1 and WDR12 (PubMed:25825154). Interacts directly with BOP1 and PES1 (PubMed:25825154).
    SequenceCaution:
    • Sequence=AAF28937.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF28937.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=AAG22482.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH16060.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91284.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14343.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for DDX27 Gene

Selected DME Specific Peptides for DDX27 Gene

Q96GQ7:
  • RVGRTAR
  • VAARGLDI
  • GRSVSLVGE
  • DEADRML
  • IQKACIP
  • GTGKTAAF
  • GRTARAGR
  • LVATDVAARGL
  • YVHRVGRT
  • TPGRLID
  • RQTMLFSAT
  • LVPTREL
  • LFSATMT
  • GKTAAFALP
  • IATPGRL
  • TDVAARGLD

Post-translational modifications for DDX27 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DDX27 Gene

Domains & Families for DDX27 Gene

Gene Families for DDX27 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DDX27 Gene

Suggested Antigen Peptide Sequences for DDX27 Gene

GenScript: Design optimal peptide antigens:
  • DEAD box polypeptide 27 (B3GQE6_HUMAN)
  • DEAD box protein 27 (DDX27_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96GQ7

UniProtKB/Swiss-Prot:

DDX27_HUMAN :
  • The C-terminal domain regulates nucleolar localization (PubMed:25825154).
  • Belongs to the DEAD box helicase family. DDX27/DRS1 subfamily.
Domain:
  • The C-terminal domain regulates nucleolar localization (PubMed:25825154).
Family:
  • Belongs to the DEAD box helicase family. DDX27/DRS1 subfamily.
genes like me logo Genes that share domains with DDX27: view

Function for DDX27 Gene

Molecular function for DDX27 Gene

UniProtKB/Swiss-Prot Function:
Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA (PubMed:25825154).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for DDX27 Gene

Phenotypes From GWAS Catalog for DDX27 Gene

Gene Ontology (GO) - Molecular Function for DDX27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA,HDA 22658674
GO:0003724 RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with DDX27: view
genes like me logo Genes that share phenotypes with DDX27: view

Animal Models for DDX27 Gene

MGI Knock Outs for DDX27:
  • Ddx27 Ddx27<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX27

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDX27 Gene

Localization for DDX27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX27 Gene

Nucleus, nucleolus. Chromosome. Note=Associates with 60S and 90S pre-ribosomal particles (PubMed:25825154). {ECO:0000269 PubMed:25825154}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDX27 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DDX27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA,IDA 20813266
GO:0005730 nucleolus IBA,IDA 25825154
genes like me logo Genes that share ontologies with DDX27: view

Pathways & Interactions for DDX27 Gene

PathCards logo

SuperPathways for DDX27 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDX27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IMP 25825154
GO:0042254 ribosome biogenesis IEA --
genes like me logo Genes that share ontologies with DDX27: view

No data available for Pathways by source and SIGNOR curated interactions for DDX27 Gene

Drugs & Compounds for DDX27 Gene

(3) Drugs for DDX27 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for DDX27 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with DDX27: view

Transcripts for DDX27 Gene

mRNA/cDNA for DDX27 Gene

2 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX27

Alternative Splicing Database (ASD) splice patterns (SP) for DDX27 Gene

No ASD Table

Relevant External Links for DDX27 Gene

GeneLoc Exon Structure for
DDX27

Expression for DDX27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX27 Gene

Protein differential expression in normal tissues from HIPED for DDX27 Gene

This gene is overexpressed in Lung (50.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX27 Gene



Protein tissue co-expression partners for DDX27 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDX27

SOURCE GeneReport for Unigene cluster for DDX27 Gene:

Hs.65234

Evidence on tissue expression from TISSUES for DDX27 Gene

  • Nervous system(4.8)
  • Skin(4.6)
  • Liver(4.5)
  • Muscle(4.4)
  • Blood(4.4)
  • Intestine(2.6)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with DDX27: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX27 Gene

Orthologs for DDX27 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX27 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DDX27 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DDX27 30 31
  • 91.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DDX27 30 31
  • 91.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DDX27 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ddx27 30 17 31
  • 87.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddx27 30
  • 87.6 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DDX27 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DDX27 30 31
  • 74.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DDX27 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddx27 30
  • 70.14 (n)
Str.11808 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.29976 30
Zebrafish
(Danio rerio)
Actinopterygii ddx27 30 31
  • 70.2 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4514 30
Fruit Fly
(Drosophila melanogaster)
Insecta Rs1 30 31 32
  • 62.45 (n)
OneToOne
Dbp45A 32
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011084 30
  • 59.29 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y71G12B.8 30 31 32
  • 55.36 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DRS1 31 33
  • 33 (a)
OneToOne
Rice
(Oryza sativa)
Liliopsida Os.27674 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8743 31
  • 60 (a)
OneToOne
Species where no ortholog for DDX27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DDX27 Gene

ENSEMBL:
Gene Tree for DDX27 (if available)
TreeFam:
Gene Tree for DDX27 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDX27: view image

Paralogs for DDX27 Gene

(13) SIMAP similar genes for DDX27 Gene using alignment to 3 proteins:

  • DDX27_HUMAN
  • B3GQE6_HUMAN
  • Q3MI07_HUMAN
genes like me logo Genes that share paralogs with DDX27: view

Variants for DDX27 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX27 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
710156 Benign: not provided 49,225,113(+) G/A MISSENSE_VARIANT
719212 Benign: not provided 49,223,432(+) A/G SYNONYMOUS_VARIANT
777581 Benign: not provided 49,228,725(+) C/T SYNONYMOUS_VARIANT
rs1130146 - p.Gly766Ser

Additional dbSNP identifiers (rs#s) for DDX27 Gene

Structural Variations from Database of Genomic Variants (DGV) for DDX27 Gene

Variant ID Type Subtype PubMed ID
nsv1064443 CNV gain 25217958
nsv1067146 CNV loss 25217958

Variation tolerance for DDX27 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.80; 94.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX27 Gene

Human Gene Mutation Database (HGMD)
DDX27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX27

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX27 Gene

Disorders for DDX27 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDX27 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, autosomal recessive, 1
  • dsma1
autosomal recessive distal hereditary motor neuronopathy
  • autosomal recessive distal spinal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search DDX27 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDX27

genes like me logo Genes that share disorders with DDX27: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDX27 Gene

Publications for DDX27 Gene

  1. DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex. (PMID: 25825154) Kellner M … Eick D (Experimental cell research 2015) 3 4
  2. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. (PMID: 20813266) Ohta S … Rappsilber J (Cell 2010) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4

Products for DDX27 Gene

Sources for DDX27 Gene