Disease relevance of BAT1

• The relevance of the BAT1 polymorphism to susceptibility to Myasthenia Gravis (MG) has been investigated [1].
• Ancestral haplotypes carry haplotypic and haplospecific polymorphisms of BAT1: possible relevance to autoimmune disease [1].
• It seemed that the BAT1 gene is responsible for non-Type I cystinuria and that its protein was a subunit linked to the rBAT protein via a disulfide bond [2].
• Cellular splicing factor RAF-2p48/NPI-5/BAT1/UAP56 interacts with the influenza virus nucleoprotein and enhances viral RNA synthesis [3].

High impact information on BAT1

• Both Aly and UAP56 associate with human counterparts of the THO complex [4].
• Mammalian U2AF65 and UAP56 are required for prespliceosome (PS) formation [5].
• The human 56-kD U2AF(65)-associated protein (hUAP56), a member of the DExD/H box protein family of RNA-dependent ATPases, is required for the stable binding of U2 snRNP to the pre-mRNA branchpoint [6].
• The sequence of UAP56 indicates it is a member of the DEAD box family of RNA-dependent ATPases, which mediate ATP hydrolysis during several steps of yeast pre-mRNA splicing [7].
• The complete sequences of two of these genes, BAT2 and BAT3 (where BAT is HLA-B-associated transcript), which are closely linked, were determined from cDNA clones [8].

Biological context of BAT1

• BAT1 and DDXL are divergent in the exons selected for the anti-sense study [9].
• However the immunochemistry may be confounded by a recently described gene, DDXL, on chromosome 19, which shares a 89% amino acid identity with BAT1 [9].
• This Caucasian study group and the Japanese sample showed strong linkage disequilibrium in the myocardial infarction-associated BAT1-NFKBIL1-LTA genomic region and related haplotype content, but significantly different genotype frequencies [10].
• These include sequences belonging to the P5, BAT1, and PERB11 gene families as well as HLA class I gene sequences [11].
• CONCLUSIONS: In view of the anti-inflammatory role of BAT1, reduced production on a disease-associated haplotype constitutes a novel and self-consistent model for the effect of central MHC genes on disease [12].

Anatomical context of BAT1

• Polyclonal antibodies raised against a peptide in exon 8 of BAT1 recognized approximately 50 kDa and approximately 38 kDa proteins in all cell lines tested, including the anti-sense transfectants [9].
• RT-PCR analyses established that BAT1 and DDXL mRNA are expressed in resting U937, THP1 and Jurkat cells [9].
• Screening of cells and tissues for BAT1 mRNA suggests an abundant member of a family of proteins expressed in multiple cell types, notably macrophages and hepatocytes [13].
• alpha-Actinin 4 and BAT1 interaction with the Cytochrome c promoter upon skeletal muscle differentiation [14].
• Reducing the expression of either URH49 or UAP56 in HeLa cells had little effect on cell proliferation or expression of a co-transfected gene [15].

Associations of BAT1 with chemical compounds

• The NTP binding pocket of UAP56 is occupied by a citrate ion, mimicking the phosphates of NTP and retaining the P loop in an open conformation [16].

Other interactions of BAT1

• No missing or extra DNA fragments were observed in the disease groups when compared with controls indicating that gross deletions or duplications of the BAT1 and BAT2 genes in the patients are unlikely [17].
• An approximately 220-kb segment of DNA in the class III region separating the Hsp70 (HSPA1L) and BAT1 (D6S8IE) genes, which was previously known to contain 14 genes, has been analyzed for the presence of additional genes [18].
• Characterisation of the human central MHC gene, BAT1: genomic structure and expression [13].
• We show that UAP56 is an essential splicing factor, which is recruited to the pre-mRNA dependent on U2AF65, and is required for the U2 snRNP-branchpoint interaction [7].
• Contrasting to the results obtained in MEL cells expressing normal human beta-globin transcripts, mutant pre-mRNAs defective in splicing and 3'end processing do not colocalize with SRm160, REF, UAP56, or Sm proteins [19].

Analytical, diagnostic and therapeutic context of BAT1

• 3. Recent genomic sequence analysis of a 90 kb segment of DNA containing the tumour necrosis factor genes in the class III region of the MHC has predicted the presence of three potential exons mapping between the BAT1 and TNFB genes (12) [20].

References