Human Gene DHX30 (uc003cru.3) Description and Page Index
  Description: Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_138615): 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013].
Transcript (Including UTRs)
   Position: hg19 chr3:47,844,399-47,891,686 Size: 47,288 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 CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:47,844,399-47,891,686)mRNA (may differ from genome)Protein (1194 aa)
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-  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;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DHX30
CDC HuGE Published Literature: DHX30

-  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
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-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -216.00426-0.507 Picture PostScript Text
3' UTR -14.5076-0.191 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

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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  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, KIAA0890, NM_138615, NP_619520, O94965, Q7L2E3, Q7Z753, Q96CH4, Q9NUQ0
UCSC ID: uc003cru.3
RefSeq Accession: NM_138615
Protein: Q7L2E3 (aka DHX30_HUMAN)
CCDS: CCDS2759.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_138615.2
exon count: 22CDS single in 3' UTR: no RNA size: 4104
ORF size: 3585CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7277.00frame shift in genome: no % Coverage: 99.59
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
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.