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HSD17B13
Identifiers
Aliases	HSD17B13, NIIL497, SCDR9, SDR16C3, HMFN0376, hydroxysteroid (17-beta) dehydrogenase 13, hydroxysteroid 17-beta dehydrogenase 13
External IDs	OMIM: 612127; MGI: 2140804; HomoloGene: 71549; GeneCards: HSD17B13; OMA:HSD17B13 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q22.1 Start 87,303,789 bp End 87,322,886 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 E5 Start 104,103,306 bp End 104,125,276 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in liver right lobe of liver olfactory zone of nasal mucosa vagina subcutaneous adipose tissue lactiferous gland myometrium ectocervix skin of leg body of uterus Top expressed in left lobe of liver epithelium of small intestine duodenum zygote secondary oocyte ileum migratory enteric neural crest cell primary oocyte islet of Langerhans jejunum More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity molecular function steroid dehydrogenase activity Cellular component extracellular region lipid droplet cytosol cellular component Biological process positive regulation of lipid biosynthetic process lipid droplet organization biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 345275 243168 Ensembl ENSG00000170509 ENSMUSG00000034528 UniProt Q7Z5P4 Q8VCR2 RefSeq (mRNA) NM_178135 NM_001136230 NM_001163486 NM_198030 RefSeq (protein) NP_001129702 NP_835236 NP_001156958 NP_932147 Location (UCSC) Chr 4: 87.3 – 87.32 Mb Chr 5: 104.1 – 104.13 Mb PubMed search
Wikidata
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17β-Hydroxysteroid dehydrogenase type 13 also known as 17β-HSD type 13 is an enzyme that in humans is encoded by the HSD17B13 gene.

17β-HSD13 is significantly up-regulated in the liver of patients with non-alcoholic fatty liver disease (NAFLD) and enhances lipogenesis.

Inhibitors

In 2023 the first potent and selective HSD17B13 inhibitor, BI-3231, was reported. The inhibitor meets the quality criteria of a 'Donated Chemical Probe' as defined by the Structural Genomics Consortium.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000170509 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034528 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Zhu YS, Imperato-McGinley JL (9 November 2016). "4.02: Disorders of Sexual Development in Males: Molecular Genetics, Epigenetics, Gender Identity, and Cognition". In Lightman S (ed.). Hormones, Brain and Behavior. Vol. 4: Clinical Important Effects of Hormones on Brain and Behavior. Elsevier Science. p. 69. ISBN 978-0-12-803608-2.
6. Zanders ED (9 November 2015). "Enzymes, Part 2". Human Drug Targets: A Compendium for Pharmaceutical Discovery. John Wiley & Sons. pp. 257–. ISBN 978-1-118-84985-9.
7. Su W, Wang Y, Jia X, Wu W, Li L, Tian X, et al. (August 2014). "Comparative proteomic study reveals 17β-HSD13 as a pathogenic protein in nonalcoholic fatty liver disease". Proceedings of the National Academy of Sciences of the United States of America. 111 (31): 11437–11442. Bibcode:2014PNAS..11111437S. doi:10.1073/pnas.1410741111. PMC 4128098. PMID 25028495.
8. Thamm S, Willwacher MK, Aspnes GE, Bretschneider T, Brown NF, Buschbom-Helmke S, et al. (February 2023). "Discovery of a Novel Potent and Selective HSD17B13 Inhibitor, BI-3231, a Well-Characterized Chemical Probe Available for Open Science". Journal of Medicinal Chemistry. 66 (4): 2832–2850. doi:10.1021/acs.jmedchem.2c01884. PMC 9969402. PMID 36727857.
9. "Donated Chemical Probes". thesgc.org. Retrieved July 31, 2023.

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