Homo sapiens Gene: HSD17B3
Summary
InnateDB Gene IDBG-77323.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HSD17B3
Gene Name hydroxysteroid (17-beta) dehydrogenase 3
Synonyms EDH17B3; SDR12C2
Species Homo sapiens
Ensembl Gene ENSG00000130948
Encoded Proteins
hydroxysteroid (17-beta) dehydrogenase 3
hydroxysteroid (17-beta) dehydrogenase 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:96235306-96302152
Strand Reverse strand
Band q22.32
Transcripts
ENST00000375263 ENSP00000364412
ENST00000375262 ENSP00000364411
ENST00000464104
ENST00000494814
ENST00000467499
ENST00000484816
ENST00000463517
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0016491 oxidoreductase activity
GO:0047045 testosterone 17-beta-dehydrogenase (NADP+) activity
Biological Process
GO:0006702 androgen biosynthetic process
GO:0008152 metabolic process
GO:0008202 steroid metabolic process
GO:0030539 male genitalia development
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
GO:0061370 testosterone biosynthetic process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Androgen biosynthesis pathway
Synthesis of very long-chain fatty acyl-CoAs pathway
Fatty Acyl-CoA Biosynthesis pathway
Triglyceride Biosynthesis pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism of steroid hormones and vitamin D pathway
Metabolism pathway
KEGG
Steroid hormone biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.477
RefSeq NM_000197
HUGO
OMIM
CCDS CCDS6716
HPRD 05716
IMGT
EMBL
GenPept
RNA Seq Atlas