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Chunk #4 — Gene Regulation and Variation and Protein Structure — Bioinformatic Analysis

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ADH1B: From alcoholism, natural selection, and cancer to the human phenome.
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According to COMPARTMENTS, a subcellular localization database (available at http://compartments.jensenlab.org/Search; [Binder and others 2014]) considering multiple information sources regarding different cell types, the ADH1B protein product was identified with the highest confidence in the cytosol, with low confidence in the mitochondrion and the nucleus, and with the lowest confidence in the extracellular space and the peroxisome. Regarding gene expression distribution, the early studies mainly focused their attention on the liver where the ADH1B protein product plays a role in hepatic alcohol oxidation [Zakhari 2006]. However, ADH1B is also expressed in other human tissues. In the RNA-sequencing analysis conducted by the GTEx consortium (Release V6 data available at http://www.gtexportal.org/home/; [Mele and others 2015]), ADH1B showed expression in several human tissues, with the highest values (>200 Reads Per Kilobase) observed in subcutaneous adipose tissue, liver, omentum, coronary arteries, and aorta (Figure 1). Five different transcripts are expressed by ADH1B and they showed tissue-specific distribution (Figure 2). Specifically, ENST00000506651 and ENST0000039488 account for the most ADH1B expression, but ENST00000506651 is the most expressed isoform in all tissues with the exception of liver, where