HSD17B13

Protein-coding gene in the species Homo sapiens
HSD17B13
Identifiers
AliasesHSD17B13, NIIL497, SCDR9, SDR16C3, HMFN0376, hydroxysteroid (17-beta) dehydrogenase 13, hydroxysteroid 17-beta dehydrogenase 13
External IDsOMIM: 612127; MGI: 2140804; HomoloGene: 71549; GeneCards: HSD17B13; OMA:HSD17B13 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for HSD17B13
Genomic location for HSD17B13
Band4q22.1Start87,303,789 bp[1]
End87,322,886 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for HSD17B13
Genomic location for HSD17B13
Band5|5 E5Start104,103,306 bp[2]
End104,125,276 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 104.1 – 104.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000170509 – Ensembl, May 2017
  2. ^ a b c 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). 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, 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.
  • v
  • t
  • e