• Gene id: 51171

Gene Summary

• Gene Symbol: HSD17B14   Gene   UCSC   Ensembl
• Aliases: DHRS10, SDR47C1, retSDR3
• Gene name: hydroxysteroid 17-beta dehydrogenase 14
• Alternate names: 17-beta-hydroxysteroid dehydrogenase 14, 17-beta-HSD 14, 17-beta-hydroxysteroid dehydrogenase DHRS10, dehydrogenase/reductase (SDR family) member 10, retinal short-chain dehydrogenase/reductase 3, retinal short-chain dehydrogenase/reductase retSDR3, short chain,
• Gene location: 19q13.33 (142939483: 142940864)     Exons: 2     NC_000007.14
• Gene summary(Entrez): 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supp
• OMIM: 612832

Protein Summary

• Protein general information: Q9BPX1  
  • Name: 17 beta hydroxysteroid dehydrogenase 14 (17 beta HSD 14) (EC 1.1.1. ) (17 beta hydroxysteroid dehydrogenase DHRS10) (Dehydrogenase/reductase SDR family member 10) (Retinal short chain dehydrogenase/reductase retSDR3) (Short chain dehydrogenase/reductase f
  • Length: 270  
  • Mass: 28317
  • Tissue specificity: Highly expressed in brain, placenta, liver and kidney. {ECO
• Sequence:

  MATGTRYAGKVVVVTGGGRGIGAGIVRAFVNSGARVVICDKDESGGRALEQELPGAVFILCDVTQEDDVKTLVSE
  TIRRFGRLDCVVNNAGHHPPPQRPEETSAQGFRQLLELNLLGTYTLTKLALPYLRKSQGNVINISSLVGAIGQAQ
  AVPYVATKGAVTAMTKALALDESPYGVRVNCISPGNIWTPLWEELAALMPDPRATIREGMLAQPLGRMGQPAEVG
  AAAVFLASEANFCTGIELLVTGGAELGYGCKASRSTPVDAPDIPS

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • PDB: 1YDE 5EN4 5HS6 5ICM 5ICS 5JS6 5JSF 5L7T 5L7W 5L7Y 5O42 5O43 5O6O 5O6X 5O6Z 5O72 5O7C 6EMM 6FFB 6G4L 6GBT 6GTB 6GTU 6H0M 6HNO
  • PDBsum: 1YDE 5EN4 5HS6 5ICM 5ICS 5JS6 5JSF 5L7T 5L7W 5L7Y 5O42 5O43 5O6O 5O6X 5O6Z 5O72 5O7C 6EMM 6FFB 6G4L 6GBT 6GTB 6GTU 6H0M 6HNO
  • STRING: ENSP00000263278
• Other Databases: GeneCards:  HSD17B14  Malacards:  HSD17B14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006706	steroid catabolic process	IDA	biological process
GO:0004303	estradiol 17-beta-dehydrogenase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity	IDA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq