Disease relevance of DDX39

• The hBAT1 gene was mapped to the locus of nontype I cystinuria, confirming the involvement of hBAT1 in cystinuria [1].
• Two candidate genes (DDXL and ICAM-1) within the IBD6 locus were examined in a case/control study with a total of 228 CD and 243 ulcerative colitis (UC) patients and 407 healthy controls [2].

High impact information on DDX39

• Particularly, we identified a 12-amino-acid domain within the N terminus of pUL69 which is required for binding to UAP56 and URH49, and we could demonstrate that UAP56 interaction and nucleocytoplasmic shuttling are both prerequisites for pUL69-mediated mRNA export [3].
• Here we investigate polymorphisms at positions -22 and -348 relative to the BAT1 transcription start site [4].
• Deletion of the conserved ATTA sequences (Ret-1 or BAT-1), binding sites for Crx, did not significantly decrease activation by Crx/XOtx5 [5].
• The suppressor, termed BAT1, encodes a protein of 393 amino acid residues with an NH2-terminal extension that directs Bat1p to the mitochondrial matrix [6].
• They bind RNA, interact with the helicase UAP56/DDX39, and are thought to bridge the interaction between the export factor TAP/NXF1 and mRNA [7].

Biological context of DDX39

• The proximity of the RNA, TAP, and DDX39 binding sites on REF2-I suggests their binding may be mutually exclusive, which would lead to successive ligand binding events in the course of mRNA export [7].
• BAT1 and DDXL are divergent in the exons selected for the anti-sense study [8].
• However the immunochemistry may be confounded by a recently described gene, DDXL, on chromosome 19, which shares a 89% amino acid identity with BAT1 [8].
• Reducing the expression of either URH49 or UAP56 in HeLa cells had little effect on cell proliferation or expression of a co-transfected gene [9].
• BAT1, a putative anti-inflammatory gene, presents functional polymorphisms in its promoter region that influence its transcriptional level.Methods [10].

Anatomical context of DDX39

• UAP56 and URH49 mRNAs are present at similar levels in proliferating cultured cells [11].
• UAP56 mRNA is more abundant than URH49 mRNA in many tissues, although in testes URH49 mRNA is much more abundant [11].
• RT-PCR analyses established that BAT1 and DDXL mRNA are expressed in resting U937, THP1 and Jurkat cells [8].
• Tissue distribution and localization of expression were examined by Northern blot and immunohistochemical analyses. hBAT1 cDNA was transfected to COS-7 cells with rBAT cDNA, and the uptake and efflux of 14C-labeled amino acids were measured to determine the functional properties [1].

Associations of DDX39 with chemical compounds

• CONCLUSIONS: hBAT1 exhibited the properties expected for a transporter subserving the high-affinity cystine transport system in renal proximal tubules [1].
• The BAT1 gene has previously been identified about 30 kb upstream from the tumor necrosis factor (TNF) locus and close to a NF kappa b-related gene of the nuclear factor family in the major histocompatibility complex (MHC) of human, mouse, and pig [12].

Other interactions of DDX39

• Furthermore, we show that this pUL69 activity is linked to the cellular mRNA export machinery by direct protein interaction with the highly related DEXD/H-box RNA helicases UAP56 and URH49 [3].

Analytical, diagnostic and therapeutic context of DDX39

• Fluorescence in situ hybridization was performed to map the hBAT1 gene on human chromosomes [1].

References