Human Gene DHX36 (uc003ezy.4)
  Description: Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.
RefSeq Summary (NM_020865): This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr3:153,993,457-154,042,286 Size: 48,830 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr3:153,993,960-154,042,205 Size: 48,246 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:153,993,457-154,042,286)mRNA (may differ from genome)Protein (1008 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DHX36_HUMAN
DESCRIPTION: RecName: Full=Probable ATP-dependent RNA helicase DHX36; EC=3.6.4.13; AltName: Full=DEAH box protein 36; AltName: Full=MLE-like protein 1; AltName: Full=RNA helicase associated with AU-rich element ARE;
FUNCTION: Plays a role in degradation and deadenylation of mRNAs containing in their 3'-UTR the consensus ARE sequence element. May function in sex development and spermatogenesis.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Interacts with EIF2C1, EIF2C2, PARN, EXOSC3 and EXOSC10.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Isoform 1 preferentially localized to the nucleus and isoform 2 localized to the cytoplasm. However, partitioning of cellular localization between the nucleus and cytoplasm is not exclusive, as isoform 1 was also detected in the cytoplasm. Both isoforms were excluded from nucleoli.
TISSUE SPECIFICITY: Highly expressed in testis.
SIMILARITY: Belongs to the DEAD box helicase family. DEAH subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DHX36
CDC HuGE Published Literature: DHX36

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.26 RPKM in Testis
Total median expression: 365.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.2081-0.435 Picture PostScript Text
3' UTR -113.10503-0.225 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
IPR002464 - DNA/RNA_helicase_DEAH_CS
IPR011709 - DUF1605
IPR007502 - Helicase-assoc_dom
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain
PF04408 - Helicase associated domain (HA2)
PF07717 - Oligonucleotide/oligosaccharide-binding (OB)-fold

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

ModBase Predicted Comparative 3D Structure on Q9H2U1
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001047 core promoter binding
GO:0002151 G-quadruplex RNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003697 single-stranded DNA binding
GO:0003723 RNA binding
GO:0003725 double-stranded RNA binding
GO:0004004 ATP-dependent RNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0016787 hydrolase activity
GO:0042826 histone deacetylase binding
GO:0044212 transcription regulatory region DNA binding
GO:0051880 G-quadruplex DNA binding
GO:0070034 telomerase RNA binding

Biological Process:
GO:0001503 ossification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006396 RNA processing
GO:0009615 response to virus
GO:0010501 RNA secondary structure unwinding
GO:0032206 positive regulation of telomere maintenance
GO:0032481 positive regulation of type I interferon production
GO:0043330 response to exogenous dsRNA
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0090669 telomerase RNA stabilization
GO:1902741 positive regulation of interferon-alpha secretion

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC036035 - Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36, mRNA (cDNA clone MGC:33187 IMAGE:5273384), complete cds.
AB040921 - Homo sapiens mRNA for KIAA1488 protein, partial cds.
AF217190 - Homo sapiens MLEL1 protein (MLEL1) mRNA, complete cds.
AJ577133 - Homo sapiens mRNA for putative DExH/D RNA helicase (RHAU gene), nuclear isoform.
AJ577134 - Homo sapiens mRNA for putative DExH/D RNA helicase (RHAU gene), cytoplasmic isoform.
AK314435 - Homo sapiens cDNA, FLJ95232, highly similar to Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), mRNA.
KJ903966 - Synthetic construct Homo sapiens clone ccsbBroadEn_13360 DHX36 gene, encodes complete protein.
DQ891010 - Synthetic construct clone IMAGE:100003640; FLH168500.01X; RZPDo839H0992D DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36) gene, encodes complete protein.
AK303720 - Homo sapiens cDNA FLJ51438 partial cds, highly similar to Probable ATP-dependent RNA helicase DHX36 (EC 3.6.1.-).
JD326882 - Sequence 307906 from Patent EP1572962.
JD082209 - Sequence 63233 from Patent EP1572962.
JD310440 - Sequence 291464 from Patent EP1572962.
JD096662 - Sequence 77686 from Patent EP1572962.
JD019962 - Sequence 986 from Patent EP1572962.
JD035133 - Sequence 16157 from Patent EP1572962.
AK096808 - Homo sapiens cDNA FLJ39489 fis, clone PROST2015457.
CU690268 - Synthetic construct Homo sapiens gateway clone IMAGE:100017871 5' read DHX36 mRNA.
JD142727 - Sequence 123751 from Patent EP1572962.

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

Protein Q9H2U1 (Reactome details) participates in the following event(s):

R-HSA-3134962 DHX36 binds DNA
R-HSA-3134953 DHX36 or DHX9 binds MyD88
R-HSA-3134963 DEx/H-box helicases activate type I IFN and inflammatory cytokines production
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2RB00, DDX36, DHX36_HUMAN, KIAA1488, MLEL1, NM_020865, NP_065916, Q70JU3, Q8IYE5, Q9H2U1, Q9P240, RHAU
UCSC ID: uc003ezy.4
RefSeq Accession: NM_020865
Protein: Q9H2U1 (aka DHX36_HUMAN)
CCDS: CCDS3171.1, CCDS54657.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020865.2
exon count: 25CDS single in 3' UTR: no RNA size: 3625
ORF size: 3027CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6254.00frame shift in genome: no % Coverage: 99.61
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.