Gene Symbol: BUD13
Description: BUD13 homolog
Alias: Cwc26, fSAP71, BUD13 homolog, functional spliceosome-associated protein 71
Species: human
Products:     BUD13

Top Publications

  1. Kooner J, Chambers J, Aguilar Salinas C, Hinds D, Hyde C, Warnes G, et al. Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat Genet. 2008;40:149-51 pubmed publisher
    ..4 x 10(-10)). MLXIPL coordinates transcriptional regulation of enzymes that channel glycolytic end-products into lipogenesis and energy storage, making MLXIPL a plausible 'thrifty gene'. ..
  2. Kraja A, Vaidya D, Pankow J, Goodarzi M, Assimes T, Kullo I, et al. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes. 2011;60:1329-39 pubmed publisher
    ..4% of systolic blood pressure. CONCLUSIONS Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of the covariation in these traits can be explained by the reported common genetic variants. ..
  3. Bandesh K, Prasad G, Giri A, Kauser Y, Upadhyay M, Basu A, et al. Genome-wide association study of blood lipids in Indians confirms universality of established variants. J Hum Genet. 2019;: pubmed publisher
    ..Recurrent GWAS loci-CELSR2, CETP, LPL, ZNF259, and BUD13 cropped up as lead signals in Indians, reflecting their universal applicability...
  4. Lamina C, Haun M, Coassin S, Kloss Brandstätter A, Gieger C, Peters A, et al. A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave. PLoS ONE. 2014;9:e102113 pubmed publisher
    ..Three STRs were significantly associated with total cholesterol (within LDLR, the APOA1/C3/A4/A5/BUD13 gene region and ABCG5/8), five with HDL cholesterol (3 within CETP, one in LPL and one inAPOA1/C3/A4/A5/BUD13), ..
  5. Frankiw L, Majumdar D, Burns C, Vlach L, Moradian A, Sweredoski M, et al. BUD13 Promotes a Type I Interferon Response by Countering Intron Retention in Irf7. Mol Cell. 2019;73:803-814.e6 pubmed publisher
    ..We observed consistent IR in one intron of the Irf7 gene and identified BUD13 as an RNA-binding protein that acts at this intron to increase the amount of successful splicing...
  6. Taylor K, Carty C, Dumitrescu L, Buzkova P, Cole S, Hindorff L, et al. Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study. BMC Genet. 2013;14:33 pubmed publisher
    ..001. There was evidence for heterogeneity by sex for two SNPs for ln(TG) in the APOA1/C3/A4/A5/BUD13 gene cluster: rs28927680 (p(het) = 7.4 x 10(-7)) and rs3135506 (p(het) = 4...
  7. Fernández J, Moreno Mateos M, Gohr A, Miao L, Chan S, Irimia M, et al. RES complex is associated with intron definition and required for zebrafish early embryogenesis. PLoS Genet. 2018;14:e1007473 pubmed publisher
    ..Transcriptomic analysis of bud13, snip1 (pml1) and rbmx2 (snu17) mutants revealed a global defect in intron splicing, with strong mis-splicing of a ..
  8. Lin E, Kuo P, Liu Y, Yang A, Kao C, Tsai S. Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population. Sci Rep. 2016;6:36830 pubmed publisher
    Increased risk of developing metabolic syndrome (MetS) has been associated with the APOA5, APOC1, BRAP, BUD13, CETP, LIPA, LPL, PLCG1, and ZPR1 genes...
  9. Nussbacher J, Yeo G. Systematic Discovery of RNA Binding Proteins that Regulate MicroRNA Levels. Mol Cell. 2018;69:1005-1016.e7 pubmed publisher
    ..We validated that ILF3 and BUD13 directly interact with and stabilize miR-144 and that BUD13 suppresses mir-210 processing to the mature species...

More Information


  1. Xu X, Li Y, Huang Y, Ye H, Han L, Ji H, et al. Impact of gender and age on the association of the BUD13-ZNF259 rs964184 polymorphism with coronary heart disease. Anatol J Cardiol. 2018;19:42-49 pubmed publisher
    ..191, adjusted p=1.05x10-5) and controls (r=0.101, adjusted p=0.026). Our results indicate that both gender and age have great impacts on the association of the rs964184 polymorphism with CHD among Chinese. ..
  2. Pranavchand R, Reddy B. Quantitative trait loci at the 11q23.3 chromosomal region related to dyslipidemia in the population of Andhra Pradesh, India. Lipids Health Dis. 2017;16:116 pubmed publisher
    ..The interaction analysis suggests rs10488699-rs2187126 pair of the BUD13 gene to confer significant risk (Interaction odds ratio = 14.38, P = 7...
  3. Hebbar P, Elkum N, Alkayal F, John S, Thanaraj T, Alsmadi O. Genetic risk variants for metabolic traits in Arab populations. Sci Rep. 2017;7:40988 pubmed publisher
    ..Two of these 'suggestive' associations (rs1800775-CETP/HDL; and rs9326246-BUD13/TGL) showed evidence at genome-wide significance in previous studies on Euro-centric populations...
  4. Schneider C, Agafonov D, Schmitzová J, Hartmuth K, Fabrizio P, Luhrmann R. Dynamic Contacts of U2, RES, Cwc25, Prp8 and Prp45 Proteins with the Pre-mRNA Branch-Site and 3' Splice Site during Catalytic Activation and Step 1 Catalysis in Yeast Spliceosomes. PLoS Genet. 2015;11:e1005539 pubmed publisher
    ..The RES proteins Pml1 and Bud13 were shown to contact the intron downstream of the branch-site...
  5. Pranavchand R, Kumar A, Reddy B. Genetic determinants of clinical heterogeneity of the coronary artery disease in the population of Hyderabad, India. Hum Genomics. 2017;11:3 pubmed publisher
    ..Three of these (rs17440396:G>A, rs6589566:A>G, and rs2849165:G>A) that belong to BUD13, ZPR1, and APOA5-APOA4 intergenic regions, respectively, were found to be associated across the anatomical ..
  6. Wysoczański P, Schneider C, Xiang S, Munari F, Trowitzsch S, Wahl M, et al. Cooperative structure of the heterotrimeric pre-mRNA retention and splicing complex. Nat Struct Mol Biol. 2014;21:911-8 pubmed publisher
    ..The three-dimensional structure of the RES core complex highlights the importance of cooperative folding and binding in the functional organization of the spliceosome. ..
  7. Petrovski S, Fellay J, Shianna K, Carpenetti N, Kumwenda J, Kamanga G, et al. Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population. AIDS. 2011;25:513-8 pubmed publisher
  8. Gombojav B, Lee S, Kho M, Song Y, Lee K, Sung J. Multiple susceptibility loci at chromosome 11q23.3 are associated with plasma triglyceride in East Asians. J Lipid Res. 2016;57:318-24 pubmed publisher
    ..3, which harbors a number of genes, including BUD13, ZNF259, and APOA5-A4-C3-A1. This study aimed to examine whether these multiple candidate genes on the 11q23...
  9. Fu Q, Tang X, Chen J, Su L, Zhang M, Wang L, et al. Effects of Polymorphisms in APOA4-APOA5-ZNF259-BUD13 Gene Cluster on Plasma Levels of Triglycerides and Risk of Coronary Heart Disease in a Chinese Han Population. PLoS ONE. 2015;10:e0138652 pubmed publisher
    ..The present study focused on the triglycerides (TG)-associated locus, the APOA4-APOA5-ZNF259-BUD13 gene cluster on chromosome 11, to explore the role of genetic variants in this gene cluster in the development of ..
  10. OʼBrien S, Schrodi S, Ye Z, Brilliant M, Virani S, Brautbar A. Differential Lipid Response to Statins Is Associated With Variants in the BUD13-APOA5 Gene Region. J Cardiovasc Pharmacol. 2015;66:183-8 pubmed publisher
    Genetic variants within the BUD13-APOA5 gene region are known to be associated with high-density lipoprotein cholesterol (HDL-C) and triglyceride (TG) levels...
  11. Aung L, Yin R, Wu J, Wu D, Wang W, Li H. Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels. Sci Rep. 2014;4:5565 pubmed publisher
    This study aimed to detect the association between the MLX interacting protein-like (MLXIPL), BUD13 homolog (BUD13) and zinc finger protein 259 (ZNF259) single nucleotide polymorphisms (SNPs) and serum lipid levels in the Chinese Mulao ..
  12. Suchindran S, Rivedal D, Guyton J, Milledge T, Gao X, Benjamin A, et al. Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. PLoS Genet. 2010;6:e1000928 pubmed publisher
    ..6 x 10(-24)); CELSR2/PSRC1 on chromosome 1 (p = 3 x 10(-15)); SCARB1 on chromosome 12 (p = 1x10(-8)) and ZNF259/BUD13 in the APOA5/APOA1 gene region on chromosome 11 (p = 4 x 10(-8))...
  13. Hegele R, Ban M, Hsueh N, Kennedy B, Cao H, Zou G, et al. A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. Hum Mol Genet. 2009;18:4189-94 pubmed publisher
  14. Ko A, Cantor R, Weissglas Volkov D, Nikkola E, Reddy P, Sinsheimer J, et al. Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. Nat Commun. 2014;5:3983 pubmed publisher
    ..These findings suggest that Amerindian-specific genetic architecture leads to a higher incidence of dyslipidemia and obesity in modern Mexicans. ..
  15. Aung L, Yin R, Wu D, Wang W, Liu C, Pan S. Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia. J Cell Mol Med. 2014;18:1417-28 pubmed publisher
    The single nucleotide polymorphisms (SNPs) in the BUD13 homolog (BUD13) and zinc finger protein 259 (ZNF259) genes have been associated with one or more serum lipid traits in the European populations...
  16. Zhu Y, Zhang D, Zhou D, Li Z, Li Z, Fang L, et al. Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. J Cell Mol Med. 2017;21:1106-1116 pubmed publisher
    ..known signal at rs651821 on APOA5, we newly identified a secondary triglyceride-associated signal at rs180326 on BUD13 (Pcombined = 2.4 × 10-8 )...
  17. Keller M, Schleinitz D, Förster J, Tonjes A, Bottcher Y, Fischer Rosinsky A, et al. THOC5: a novel gene involved in HDL-cholesterol metabolism. J Lipid Res. 2013;54:3170-6 pubmed publisher
    ..The small interfering RNA-mediated mRNA silencing of THOC5 in HepG2 cells resulted in lower mRNA levels of APOA1, SCARB1, and ABCG8 (all P < 0.05). We propose THOC5 to be a novel gene involved in the regulation of serum HDL-C levels. ..
  18. Major J, Yu K, Chung C, Weinstein S, Yeager M, Wheeler W, et al. Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. J Nutr. 2012;142:866-71 pubmed publisher
    ..g., ?-tocopherol) under supplementation conditions improves our understanding of the biological determinants of these nutritional exposures and their associations with cancer etiology. ..
  19. Smith E, Chen W, Kahonen M, Kettunen J, Lehtimaki T, Peltonen L, et al. Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. PLoS Genet. 2010;6:e1001094 pubmed publisher
  20. Dziembowski A, Ventura A, Rutz B, Caspary F, Faux C, Halgand F, et al. Proteomic analysis identifies a new complex required for nuclear pre-mRNA retention and splicing. EMBO J. 2004;23:4847-56 pubmed
    ..The corresponding complex was named pre-mRNA REtention and Splicing (RES). The presence of RES subunit homologues in numerous eukaryotes suggests that its function is evolutionarily conserved. ..
  21. López S, Buil A, Souto J, Casademont J, Martinez Perez A, Almasy L, et al. A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. Mitochondrion. 2014;18:34-40 pubmed publisher
    ..Both genes have a role in mitochondrial biogenesis and are potential candidates for the sex-specific control of mtDNA levels. ..
  22. Zhang L, You Y, Wu Y, Zhang Y, Wang M, Song Y, et al. Association of BUD13 polymorphisms with metabolic syndrome in Chinese population: a case-control study. Lipids Health Dis. 2017;16:127 pubmed publisher
    b>BUD13 homolog (BUD13), one of submits of the retention and splicing complex, was identified in yeast as a splicing factor that affected nuclear pre-mRNA retention...
  23. Major J, Yu K, Wheeler W, Zhang H, Cornelis M, Wright M, et al. Genome-wide association study identifies common variants associated with circulating vitamin E levels. Hum Mol Genet. 2011;20:3876-83 pubmed publisher
    ..8 × 10(-12) (rs964184 on 11q23.3 near BUD13, ZNF259 and APOA1/C3/A4/A5), P= 1.4 × 10(-10) (rs2108622 on 19pter-p13.11 near CYP4F2) and P= 8...