Human Gene DDX39B (uc003ntu.3)
  Description: Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 2, mRNA.
RefSeq Summary (NM_080598): This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011].
Transcript (Including UTRs)
   Position: hg19 chr6:31,497,996-31,510,252 Size: 12,257 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr6:31,498,211-31,508,309 Size: 10,099 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
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 (chr6:31,497,996-31,510,252)mRNA (may differ from genome)Protein (428 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DX39B_HUMAN
DESCRIPTION: RecName: Full=Spliceosome RNA helicase DDX39B; EC=3.6.4.13; AltName: Full=56 kDa U2AF65-associated protein; AltName: Full=ATP-dependent RNA helicase p47; AltName: Full=DEAD box protein UAP56; AltName: Full=HLA-B-associated transcript 1 protein;
FUNCTION: Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export. The recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge between ALYREF/THOC4 and the THO complex. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. The recruitment of the TREX complex to the intronless viral mRNA occurs via an interaction between KSHV ORF57 protein and ALYREF/THOC4.
FUNCTION: Splice factor that is required for the first ATP- dependent step in spliceosome assembly and for the interaction of U2 snRNP with the branchpoint. Has both RNA-stimulated ATP binding/hydrolysis activity and ATP-dependent RNA unwinding activity. Even with the stimulation of RNA, the ATPase activity is weak. Can only hydrolyze ATP but not other NTPs. The RNA stimulation of ATPase activity does not have a strong preference for the sequence and length of the RNA. However, ssRNA stimulates the ATPase activity much more strongly than dsRNA. Can unwind 5' or 3' overhangs or blunt end RNA duplexes in vitro. The ATPase and helicase activities are not influenced by U2AF2 and ALYREF/THOC4.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=3.3 uM for ATP; Vmax=0.126 uM/min/mg enzyme with ATP as substrate;
SUBUNIT: Homodimer, and heterodimer with DDX39A. Component of the THO complex, which is composed of THOC1, THOC2, THOC5, THOC6 and THOC7. Together with THOC3, ALYREF/THOC4 and DDX39B, THO forms the transcription/export (TREX) complex. Component of the spliceosome. Interacts directly with U2AF2. Interacts directly with ALYREF/THOC4 and is necessARy for ALYREF/THOC4 recruitment to spliced mRNA. Interacts with RBM8A, RNPS1 and SRRM1. Interacts with FYTTD1/UIF and THOC1. Interacts with human cytomegalovirus/HHV-5 protein UL69.
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle.
DOMAIN: The helicase C-terminal domain mediates interaction with ALYREF/THOC4.
SIMILARITY: Belongs to the DEAD box helicase family. DECD subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SEQUENCE CAUTION: Sequence=CAI17665.2; Type=Erroneous gene model prediction;

-  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: DDX39B
Diseases sorted by gene-association score: plasmodium vivax malaria (10)

-  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: 3.87 RPKM in Brain - Cerebellum
Total median expression: 87.44 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 -193.28528-0.366 Picture PostScript Text
3' UTR -58.11215-0.270 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
1T5I - X-ray MuPIT 1T6N - X-ray MuPIT 1XTI - X-ray MuPIT 1XTJ - X-ray MuPIT 1XTK - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13838
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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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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:0005515 protein binding
GO:0005524 ATP binding
GO:0008186 RNA-dependent ATPase activity
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0017070 U6 snRNA binding
GO:0030621 U4 snRNA binding
GO:0042802 identical protein binding
GO:0043008 ATP-dependent protein binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0000245 spliceosomal complex assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0001889 liver development
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0010501 RNA secondary structure unwinding
GO:0031124 mRNA 3'-end processing
GO:0032786 positive regulation of DNA-templated transcription, elongation
GO:0045727 positive regulation of translation
GO:0046784 viral mRNA export from host cell nucleus
GO:0051028 mRNA transport
GO:0061051 positive regulation of cell growth involved in cardiac muscle cell development
GO:1904707 positive regulation of vascular smooth muscle cell proliferation
GO:2000002 negative regulation of DNA damage checkpoint
GO:2000573 positive regulation of DNA biosynthetic process

Cellular Component:
GO:0000346 transcription export complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016363 nuclear matrix
GO:0016607 nuclear speck
GO:0032991 macromolecular complex
GO:0005687 U4 snRNP
GO:0005688 U6 snRNP


-  Descriptions from all associated GenBank mRNAs
  BC004350 - Homo sapiens cDNA clone IMAGE:3536103.
AK222912 - Homo sapiens mRNA for HLA-B associated transcript 1 variant, clone: HRC02604.
BC013006 - Homo sapiens HLA-B associated transcript 1, mRNA (cDNA clone MGC:3991 IMAGE:3010263), complete cds.
Z37166 - H.sapiens BAT1 mRNA for nuclear RNA helicase (DEAD family).
BC000361 - Homo sapiens HLA-B associated transcript 1, mRNA (cDNA clone MGC:8674 IMAGE:2964517), complete cds.
AK298194 - Homo sapiens cDNA FLJ53073 complete cds, highly similar to Spliceosome RNA helicase Bat1 (EC 3.6.1.-).
AB209217 - Homo sapiens mRNA for HLA-B associated transcript 1 variant protein.
JD381427 - Sequence 362451 from Patent EP1572962.
JD454504 - Sequence 435528 from Patent EP1572962.
JD276483 - Sequence 257507 from Patent EP1572962.
JD124427 - Sequence 105451 from Patent EP1572962.
JD339533 - Sequence 320557 from Patent EP1572962.
JD469887 - Sequence 450911 from Patent EP1572962.
JD495458 - Sequence 476482 from Patent EP1572962.
JD043342 - Sequence 24366 from Patent EP1572962.
BT009909 - Homo sapiens HLA-B associated transcript 1 mRNA, complete cds.
DQ891881 - Synthetic construct clone IMAGE:100004511; FLH180891.01X; RZPDo839H02134D HLA-B associated transcript 1 (BAT1) gene, encodes complete protein.
KJ897793 - Synthetic construct Homo sapiens clone ccsbBroadEn_07187 hypothetical protein, encodes complete protein.
DQ895067 - Synthetic construct Homo sapiens clone IMAGE:100009527; FLH180887.01L; RZPDo839H02133D HLA-B associated transcript 1 (BAT1) gene, encodes complete protein.
AB528305 - Synthetic construct DNA, clone: pF1KE1035, Homo sapiens BAT1 gene for HLA-B associated transcript 1, without stop codon, in Flexi system.
AK127767 - Homo sapiens cDNA FLJ45868 fis, clone OCBBF3004487, highly similar to Probable ATP-dependent RNA helicase p47.
DQ581701 - Homo sapiens piRNA piR-49813, complete sequence.
AK295854 - Homo sapiens cDNA FLJ54084 complete cds, moderately similar to Spliceosome RNA helicase Bat1 (EC 3.6.1.-).
AK316469 - Homo sapiens cDNA, FLJ79368 complete cds, highly similar to Spliceosome RNA helicase Bat1 (EC 3.6.1.-).
AK295634 - Homo sapiens cDNA FLJ54033 complete cds, highly similar to Spliceosome RNA helicase Bat1 (EC 3.6.1.-).
AK294939 - Homo sapiens cDNA FLJ53763 complete cds, highly similar to Spliceosome RNA helicase BAT1 (EC 3.6.1.-).
JD469310 - Sequence 450334 from Patent EP1572962.
JD211352 - Sequence 192376 from Patent EP1572962.
JD538060 - Sequence 519084 from Patent EP1572962.
DQ598822 - Homo sapiens piRNA piR-36888, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

Reactome (by CSHL, EBI, and GO)

Protein Q13838 (Reactome details) participates in the following event(s):

R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-72187 mRNA 3'-end processing
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-8953854 Metabolism of RNA
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B0S8C0, BAT1, DX39B_HUMAN, NM_080598, NP_542165, O43496, Q0EFA1, Q13838, Q2L6F9, Q53GL9, Q5RJ64, Q5RJ66, Q5ST94, Q5STB4, Q5STB5, Q5STB7, Q5STB8, Q5STU4, Q5STU5, Q5STU6, Q5STU8, Q71V76, UAP56
UCSC ID: uc003ntu.3
RefSeq Accession: NM_080598
Protein: Q13838 (aka DX39B_HUMAN)
CCDS: CCDS4697.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_080598.5
exon count: 11CDS single in 3' UTR: no RNA size: 2044
ORF size: 1287CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2686.00frame shift in genome: no % Coverage: 99.32
has start codon: yes stop codon in genome: no # of Alignments: 8
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.