Human Gene DHX30 (ENST00000445061.6_6) from GENCODE V47lift37
  Description: DExH-box helicase 30, transcript variant 1 (from RefSeq NM_138615.3)
Gencode Transcript: ENST00000445061.6_6
Gencode Gene: ENSG00000132153.15_10
Transcript (Including UTRs)
   Position: hg19 chr3:47,844,628-47,891,683 Size: 47,056 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr3:47,852,174-47,891,610 Size: 39,437 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:47,844,628-47,891,683)mRNA (may differ from genome)Protein (1194 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DHX30_HUMAN
DESCRIPTION: RecName: Full=Putative ATP-dependent RNA helicase DHX30; EC=3.6.4.13; AltName: Full=DEAH box protein 30;
FUNCTION: Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Identified in a complex with TFAM and SSBP1. Interacts with EIF2C1 and EIF2C2. Interacts (via N-terminus) with ZC3HAV1 (via N-terminal domain) in an RNA-independent manner (By similarity).
INTERACTION: Q96C10:DHX58; NbExp=2; IntAct=EBI-1211456, EBI-744193; P19525:EIF2AK2; NbExp=2; IntAct=EBI-1211456, EBI-640775; Q9Y6K5:OAS3; NbExp=2; IntAct=EBI-1211456, EBI-6115729;
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm.
SUBCELLULAR LOCATION: Mitochondrion. Cytoplasm (Potential). Mitochondrion matrix, mitochondrion nucleoid.
PTM: Isoform 2 is phosphorylated on Ser-15.
SIMILARITY: Belongs to the DEAD box helicase family. DEAH subfamily.
SIMILARITY: Contains 1 DRBM (double-stranded RNA-binding) domain.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SEQUENCE CAUTION: Sequence=BAA74913.2; Type=Erroneous initiation; Sequence=BAA92071.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: DHX30
Diseases sorted by gene-association score: strabismus* (231), mechanical strabismus* (200), microcephaly* (141), visual epilepsy* (83), seizure disorder* (77), alacrima, achalasia, and mental retardation syndrome* (76), intellectual disability* (70)
* = Manually curated disease association

-  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: 45.26 RPKM in Testis
Total median expression: 760.46 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 -66.80197-0.339 Picture PostScript Text
3' UTR -13.7073-0.188 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:
48371 - ARM repeat
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
54768 - dsRNA-binding domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DB2 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q7L2E3
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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 orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003682 chromatin 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:0016787 hydrolase activity

Biological Process:
GO:0006396 RNA processing
GO:0042254 ribosome biogenesis
GO:1902775 mitochondrial large ribosomal subunit assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0035770 ribonucleoprotein granule
GO:0042645 mitochondrial nucleoid


-  Descriptions from all associated GenBank mRNAs
  BC047335 - Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30, mRNA (cDNA clone IMAGE:5116234), partial cds.
BC028405 - Homo sapiens cDNA clone IMAGE:4821157, containing frame-shift errors.
AK291266 - Homo sapiens cDNA FLJ78645 complete cds, highly similar to Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 2, mRNA.
AK096791 - Homo sapiens cDNA FLJ39472 fis, clone PROST2012888.
BC020126 - Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30, mRNA (cDNA clone MGC:21290 IMAGE:4339419), complete cds.
BC038417 - Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30, mRNA (cDNA clone MGC:34339 IMAGE:5171702), complete cds.
BC015029 - Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30, mRNA (cDNA clone MGC:9082 IMAGE:3911049), complete cds.
AB020697 - Homo sapiens KIAA0890 mRNA for KIAA0890 protein.
BC063510 - Homo sapiens cDNA clone IMAGE:3870744, partial cds.
JD044634 - Sequence 25658 from Patent EP1572962.
JD117952 - Sequence 98976 from Patent EP1572962.
AB385395 - Synthetic construct DNA, clone: pF1KA0890, Homo sapiens DHX30 gene for ATP-dependent RNA helicase DHX30, complete cds, without stop codon, in Flexi system.
DQ894269 - Synthetic construct Homo sapiens clone IMAGE:100008729; FLH169230.01L; RZPDo839H1193D DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30) gene, encodes complete protein.
AK002076 - Homo sapiens cDNA FLJ11214 fis, clone PLACE1007990.
JD186975 - Sequence 167999 from Patent EP1572962.
CU676939 - Synthetic construct Homo sapiens gateway clone IMAGE:100019702 5' read DHX30 mRNA.
KJ902252 - Synthetic construct Homo sapiens clone ccsbBroadEn_11646 DHX30 gene, encodes complete protein.
BC014237 - Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30, mRNA (cDNA clone IMAGE:4553927), complete cds.
JD019835 - Sequence 859 from Patent EP1572962.
JD317944 - Sequence 298968 from Patent EP1572962.
JD465670 - Sequence 446694 from Patent EP1572962.
JD538047 - Sequence 519071 from Patent EP1572962.
JD241237 - Sequence 222261 from Patent EP1572962.
JD371741 - Sequence 352765 from Patent EP1572962.
JD338495 - Sequence 319519 from Patent EP1572962.
JD199141 - Sequence 180165 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5F1, DDX30, DHX30_HUMAN, ENST00000445061.1, ENST00000445061.2, ENST00000445061.3, ENST00000445061.4, ENST00000445061.5, KIAA0890, NM_138615, O94965, Q7L2E3, Q7Z753, Q96CH4, Q9NUQ0, uc320mwg.1, uc320mwg.2
UCSC ID: ENST00000445061.6_6
RefSeq Accession: NM_138615.3
Protein: Q7L2E3 (aka DHX30_HUMAN)

-  Gene Model Information
  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.