HSD17B13

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
Gene location (Human)
Chr.	Chromosome 4 (human)
End	87,322,886 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	104,125,276 bp
RNA expression pattern
	Top expressed in
	liver; ; right lobe of liver; ; vagina; ; subcutaneous adipose tissue; ; myometrium; ; gastric mucosa; ; cerebellar cortex; ; cerebellar hemisphere; ; right lung; ; skin of abdomen;
	Top expressed in
	left lobe of liver; ; duodenum; ; secondary oocyte; ; ileum; ; islet of Langerhans; ; jejunum; ; large intestine; ; colon; ; Paneth cell; ; stomach;
	More reference expression data
	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
	345275
	243168
	ENSG00000170509
	ENSMUSG00000034528
	Q7Z5P4
	Q8VCR2
	NM_178135; NM_001136230
	NM_001163486; NM_198030
	NP_001129702; NP_835236
	NP_001156958; NP_932147
	Wikidata
View/Edit Human	View/Edit Mouse

17β-Hydroxysteroid dehydrogenase type 13 also known as 17β-HSD type 13 is an enzyme that in humans is encoded by the HSD17B13 gene.^[5]^[6]

17β-HSD13 is significantly up-regulated in the liver of patients with non-alcoholic fatty liver disease (NAFLD) and enhances lipogenesis.^[7]

Inhibitors

In 2023 the first potent and selective HSD17B13 inhibitor, BI-3231, was reported.^[8] The inhibitor meets the quality criteria of a 'Donated Chemical Probe' as defined by the Structural Genomics Consortium.^[9]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000170509 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034528 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Zhu Y, 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.
↑ Zanders ED (9 November 2015). Human Drug Targets: A Compendium for Pharmaceutical Discovery. John Wiley & Sons. pp. 257–. ISBN 978-1-118-84985-9.
↑ Su W, Wang Y, Jia X, Wu W, Li L, Tian X, Li S, Wang C, Xu H, Cao J, Han Q, Xu S, Chen Y, Zhong Y, Zhang X, Liu P, Gustafsson JÅ, Guan Y (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): 11437–42. Bibcode:2014PNAS..11111437S. doi:10.1073/pnas.1410741111. PMC 4128098. PMID 25028495.
↑ Thamm, Sven; Willwacher, Marina K.; Aspnes, Gary E.; et al. (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.
↑ "Donated Chemical Probes". thesgc.org. Retrieved July 31, 2023.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000170509 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Elsevier2016-5] Zhu Y, 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.

[Zanders2015-6] Zanders ED (9 November 2015). Human Drug Targets: A Compendium for Pharmaceutical Discovery. John Wiley & Sons. pp. 257–. ISBN 978-1-118-84985-9.

[pmid25028495-7] Su W, Wang Y, Jia X, Wu W, Li L, Tian X, Li S, Wang C, Xu H, Cao J, Han Q, Xu S, Chen Y, Zhong Y, Zhang X, Liu P, Gustafsson JÅ, Guan Y (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): 11437–42. Bibcode:2014PNAS..11111437S. doi:10.1073/pnas.1410741111. PMC 4128098. PMID 25028495.

[8] Thamm, Sven; Willwacher, Marina K.; Aspnes, Gary E.; et al. (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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