Characterization of essential domains in HSD17B13 for cellular localization and enzymatic activity

Younossi, 2018, Global burden of NAFLD and NASH: trends, predictions, risk factors and prevention, Nat. Rev. Gastroenterol. Hepatol., 15, 11, 10.1038/nrgastro.2017.109 Pais, 2016, NAFLD and liver transplantation: current burden and expected challenges, J. Hepatol., 65, 1245, 10.1016/j.jhep.2016.07.033 Rotman, 2017, Current and upcoming pharmacotherapy for non-alcoholic fatty liver disease, Gut., 66, 180, 10.1136/gutjnl-2016-312431 Loomba, 2015, Heritability of hepatic fibrosis and steatosis based on a prospective twin study, Gastroenterology., 149, 1784, 10.1053/j.gastro.2015.08.011 Schwimmer, 2009, Heritability of nonalcoholic fatty liver disease, Gastroenterology., 136, 1585, 10.1053/j.gastro.2009.01.050 Browning, 2004, Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity, Hepatology., 40, 1387, 10.1002/hep.20466 Romeo, 2008, Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease, Nat. Genet., 40, 1461, 10.1038/ng.257 Yuan, 2008, Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes, Am. J. Hum. Genet., 83, 520, 10.1016/j.ajhg.2008.09.012 Sookoian, 2009, A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity, J. Lipid Res., 50, 2111, 10.1194/jlr.P900013-JLR200 Rotman, 2010, The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease, Hepatology., 52, 894, 10.1002/hep.23759 Speliotes, 2010, PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease, Hepatology., 52, 904, 10.1002/hep.23768 Valenti, 2010, Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease, Hepatology., 51, 1209, 10.1002/hep.23622 Holmen, 2014, Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk, Nat. Genet., 46, 345, 10.1038/ng.2926 Kozlitina, 2014, Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease, Nat. Genet., 46, 352, 10.1038/ng.2901 Mahdessian, 2014, TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content, Proc. Natl. Acad. Sci. USA., 111, 8913, 10.1073/pnas.1323785111 Buch, 2015, A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis, Nat. Genet., 47, 1443, 10.1038/ng.3417 Ma, 2019, 17-Beta hydroxysteroid dehydrogenase 13 is a hepatic retinol dehydrogenase associated with histological features of nonalcoholic fatty liver disease, Hepatology., 69, 1504, 10.1002/hep.30350 Chambers, 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma, Nat. Genet., 43, 1131, 10.1038/ng.970 Abul-Husn, 2018, A protein-truncating HSD17B13 variant and protection from chronic liver disease, N. Engl. J. Med., 378, 1096, 10.1056/NEJMoa1712191 Pirola, 2019, Splice variant rs72613567 prevents worst histologic outcomes in patients with nonalcoholic fatty liver disease, J. Lipid Res., 60, 176, 10.1194/jlr.P089953 Stickel, 2020, Genetic variation in HSD17B13 reduces the risk of developing cirrhosis and hepatocellular carcinoma in alcohol misusers, Hepatology., 72, 88, 10.1002/hep.30996 Yang, 2019, A 17-Beta-hydroxysteroid dehydrogenase 13 variant protects from hepatocellular carcinoma development in alcoholic liver disease, Hepatology., 70, 231, 10.1002/hep.30623 Ma, 2020, Letter to the Editor: does the HSD17B13 rs72613567 splice variant actually yield a new type of alternative splicing?, Hepatology., 71, 1885, 10.1002/hep.31044 Kozlitina, 2018, HSD17B13 and chronic liver disease in Blacks and Hispanics, N. Engl. J. Med., 379, 1876, 10.1056/NEJMc1804027 Thiam, 2013, The biophysics and cell biology of lipid droplets, Nat. Rev. Mol. Cell Biol., 14, 775, 10.1038/nrm3699 Fujimoto, 2011, Not just fat: the structure and function of the lipid droplet, Cold Spring Harb. Perspect. Biol., 3, a004838, 10.1101/cshperspect.a004838 Kory, 2016, Targeting fat: mechanisms of protein localization to lipid droplets, Trends Cell Biol., 26, 535, 10.1016/j.tcb.2016.02.007 Bickel, 2009, PAT proteins, an ancient family of lipid droplet proteins that regulate cellular lipid stores, Biochim. Biophys. Acta., 1791, 419, 10.1016/j.bbalip.2009.04.002 Miura, 2002, Functional conservation for lipid storage droplet association among Perilipin, ADRP, and TIP47 (PAT)-related proteins in mammals, Drosophila, and Dictyostelium, J. Biol. Chem., 277, 32253, 10.1074/jbc.M204410200 Ohsaki, 2006, Recruitment of TIP47 to lipid droplets is controlled by the putative hydrophobic cleft, Biochem. Biophys. Res. Commun., 347, 279, 10.1016/j.bbrc.2006.06.074 Horiguchi, 2008, 17beta-Hydroxysteroid dehydrogenase type 13 is a liver-specific lipid droplet-associated protein, Biochem. Biophys. Res. Commun., 370, 235, 10.1016/j.bbrc.2008.03.063 Su, 2014, Comparative proteomic study reveals 17beta-HSD13 as a pathogenic protein in nonalcoholic fatty liver disease, Proc. Natl. Acad. Sci. USA., 111, 11437, 10.1073/pnas.1410741111 Friedman, 2018, Mechanisms of NAFLD development and therapeutic strategies, Nat. Med., 24, 908, 10.1038/s41591-018-0104-9 Sonnhammer, 1998, A hidden Markov model for predicting transmembrane helices in protein sequences, Proc. Int. Conf. Intell. Syst. Mol. Biol., 6, 175 Wilkins, 1999, Protein identification and analysis tools in the ExPASy server, Methods Mol. Biol., 112, 531 Lukacik, 2006, Structure and function of human 17beta-hydroxysteroid dehydrogenases, Mol. Cell. Endocrinol., 248, 61, 10.1016/j.mce.2005.12.007 Duax, 2003, Rational proteomics I. Fingerprint identification and cofactor specificity in the short-chain oxidoreductase (SCOR) enzyme family, Proteins., 53, 931, 10.1002/prot.10512 Filling, 2002, Critical residues for structure and catalysis in short-chain dehydrogenases/reductases, J. Biol. Chem., 277, 25677, 10.1074/jbc.M202160200 Belyaeva, 2017, The antagonistically bifunctional retinoid oxidoreductase complex is required for maintenance of all-trans-retinoic acid homeostasis, J. Biol. Chem., 292, 5884, 10.1074/jbc.M117.776914 Ma, 2020, Hsd17b13 deficiency does not protect mice from obesogenic diet injury, Hepatology. Marchais-Oberwinkler, 2011, 17β-Hydroxysteroid dehydrogenases (17β-HSDs) as therapeutic targets: protein structures, functions, and recent progress in inhibitor development, J. Steroid Biochem. Mol. Biol., 125, 66, 10.1016/j.jsbmb.2010.12.013 Belyaeva, 2015, Evolutionary origins of retinoid active short-chain dehydrogenases/reductases of SDR16C family, Chem. Biol. Interact., 234, 135, 10.1016/j.cbi.2014.10.026 Jiang, 2013, The retinol dehydrogenase Rdh10 localizes to lipid droplets during acyl ester biosynthesis, J. Biol. Chem., 288, 589, 10.1074/jbc.M112.402883 Horiguchi, 2008, Identification and characterization of the ER/lipid droplet-targeting sequence in 17beta-hydroxysteroid dehydrogenase type 11, Arch. Biochem. Biophys., 479, 121, 10.1016/j.abb.2008.08.020 Tsachaki, 2019, Subcellular localization and membrane topology of 17beta-hydroxysteroid dehydrogenases, Mol. Cell. Endocrinol., 489, 98, 10.1016/j.mce.2018.07.003 Nakamura, 2003, Adipose differentiation-related protein has two independent domains for targeting to lipid droplets, Biochem. Biophys. Res. Commun., 306, 333, 10.1016/S0006-291X(03)00979-3 Ingelmo-Torres, 2009, Hydrophobic and basic domains target proteins to lipid droplets, Traffic., 10, 1785, 10.1111/j.1600-0854.2009.00994.x Fukasawa, 2015, MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites, Mol. Cell. Proteomics., 14, 1113, 10.1074/mcp.M114.043083 Yamamoto, 2011, Dual role of the receptor Tom20 in specificity and efficiency of protein import into mitochondria, Proc. Natl. Acad. Sci. USA., 108, 91, 10.1073/pnas.1014918108 Smith, 2011, Road to ruin: targeting proteins for degradation in the endoplasmic reticulum, Science., 334, 1086, 10.1126/science.1209235 Shen, 2017, Role of S-palmitoylation by ZDHHC13 in mitochondrial function and metabolism in liver, Sci. Rep., 7, 2182, 10.1038/s41598-017-02159-4 Park, 2000, Structure-activity analysis of buforin II, a histone H2A-derived antimicrobial peptide: the proline hinge is responsible for the cell-penetrating ability of buforin II, Proc. Natl. Acad. Sci. USA., 97, 8245, 10.1073/pnas.150518097 Takahashi, 2009, Characterization of key residues and membrane association domains in retinol dehydrogenase 10, Biochem. J., 419, 113, 10.1042/BJ20080812 Jörnvall, 1995, Short-chain dehydrogenases/reductases (SDR), Biochemistry., 34, 6003, 10.1021/bi00018a001 Huang, 2001, Critical residues for the specificity of cofactors and substrates in human estrogenic 17beta-hydroxysteroid dehydrogenase 1: variants designed from the three-dimensional structure of the enzyme, Mol. Endocrinol., 15, 2010 Oppermann, 2003, Short-chain dehydrogenases/reductases (SDR): the 2002 update, Chem. Biol. Interact., 143–144, 247, 10.1016/S0009-2797(02)00164-3 Ghosh, 2001, Molecular mechanisms of estrogen recognition and 17-keto reduction by human 17beta-hydroxysteroid dehydrogenase 1, Chem. Biol. Interact., 130–132, 637, 10.1016/S0009-2797(00)00255-6