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; OMA:HSD17B13 - orthologs
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; ; 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
	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 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.
↑ 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.
↑ 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.
↑ 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.
↑ "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 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.

[Zanders2015-6] 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.

[pmid25028495-7] 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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