Human Gene DDX52 (uc002hoi.2) Description and Page Index
  Description: Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr17:35,972,363-36,003,493 Size: 31,131 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr17:35,974,341-36,003,449 Size: 29,109 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:35,972,363-36,003,493)mRNA (may differ from genome)Protein (599 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Probable ATP-dependent RNA helicase DDX52; EC=; AltName: Full=ATP-dependent RNA helicase ROK1-like; AltName: Full=DEAD box protein 52;
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBCELLULAR LOCATION: Nucleus, nucleolus.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the DEAD box helicase family. DDX52/ROK1 subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SEQUENCE CAUTION: Sequence=AAD27766.1; Type=Frameshift; Positions=324, 327, 330, 350, 365, 377; Sequence=AK093661; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=BAA91812.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=CAA09374.1; Type=Frameshift; Positions=355, 377;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DDX52
CDC HuGE Published Literature: DDX52
Positive Disease Associations: Cholesterol , Cholesterol, LDL
Related Studies:
  1. Cholesterol
    , , . [PubMed 0]
  2. Cholesterol, LDL
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: DDX52
Diseases sorted by gene-association score: chromosome 17q12 deletion syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.8044-0.359 Picture PostScript Text
3' UTR -541.161978-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011545 - DNA/RNA_helicase_DEAD/DEAH_N
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR014014 - RNA_helicase_DEAD_Q_motif

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain
PF04851 - Type III restriction enzyme, res subunit

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9Y2R4
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
     Protein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004004 ATP-dependent RNA helicase activity
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0016787 hydrolase activity

Biological Process:
GO:0006364 rRNA processing
GO:0010501 RNA secondary structure unwinding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  AK025721 - Homo sapiens cDNA: FLJ22068 fis, clone HEP11588, highly similar to AF077033 Homo sapiens putative ATP-dependent RNA helicase ROK1 mRNA.
BC041785 - Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52, mRNA (cDNA clone MGC:32662 IMAGE:4808288), complete cds.
AK027425 - Homo sapiens cDNA FLJ14519 fis, clone NT2RM1000852, highly similar to Probable ATP-dependent RNA helicase DDX52 (EC 3.6.1.-).
AK001652 - Homo sapiens cDNA FLJ10790 fis, clone NT2RP4000518, weakly similar to ATP-DEPENDENT RNA HELICASE ROK1.
JD175053 - Sequence 156077 from Patent EP1572962.
AF077033 - Homo sapiens putative ATP-dependent RNA helicase ROK1 mRNA, complete cds.
JD088607 - Sequence 69631 from Patent EP1572962.
JD096805 - Sequence 77829 from Patent EP1572962.
AK001245 - Homo sapiens cDNA FLJ10383 fis, clone NT2RM2002100, highly similar to Probable ATP-dependent RNA helicase DDX52 (EC 3.6.1.-).
AJ010840 - Homo sapiens mRNA for ATP-dependent RNA helicase, partial.
AB208938 - Homo sapiens mRNA for ATP-dependent RNA helicase ROK1 isoform a variant protein.
JD555149 - Sequence 536173 from Patent EP1572962.
JD550853 - Sequence 531877 from Patent EP1572962.
JD155677 - Sequence 136701 from Patent EP1572962.
JD285387 - Sequence 266411 from Patent EP1572962.
JD398613 - Sequence 379637 from Patent EP1572962.
JD070398 - Sequence 51422 from Patent EP1572962.
JD420384 - Sequence 401408 from Patent EP1572962.
JD254661 - Sequence 235685 from Patent EP1572962.
JD529906 - Sequence 510930 from Patent EP1572962.
JD176059 - Sequence 157083 from Patent EP1572962.
JD280570 - Sequence 261594 from Patent EP1572962.
JD492196 - Sequence 473220 from Patent EP1572962.
KJ898343 - Synthetic construct Homo sapiens clone ccsbBroadEn_07737 DDX52 gene, encodes complete protein.
BC006489 - Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52, mRNA (cDNA clone IMAGE:3687438), partial cds.
AK093661 - Homo sapiens cDNA FLJ36342 fis, clone THYMU2006666.
AX748248 - Sequence 1773 from Patent EP1308459.
CU692030 - Synthetic construct Homo sapiens gateway clone IMAGE:100022333 5' read DDX52 mRNA.
BC012557 - Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52, mRNA (cDNA clone IMAGE:4296354), with apparent retained intron.
JD240666 - Sequence 221690 from Patent EP1572962.
JD326250 - Sequence 307274 from Patent EP1572962.
JD233145 - Sequence 214169 from Patent EP1572962.
JD233420 - Sequence 214444 from Patent EP1572962.
JD203679 - Sequence 184703 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2R4 (Reactome details) participates in the following event(s):

R-HSA-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: DDX52_HUMAN, HUSSY-19, NM_007010, NP_008941, Q86YG1, Q8N213, Q9NVE0, Q9Y2R4, Q9Y482, ROK1
UCSC ID: uc002hoi.2
RefSeq Accession: NM_007010
Protein: Q9Y2R4 (aka DDX52_HUMAN or DX52_HUMAN)
CCDS: CCDS11323.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_007010.3
exon count: 15CDS single in 3' UTR: no RNA size: 3822
ORF size: 1800CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3800.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.