HSD17B3 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | HSD17B3 |
| Official Name | hydroxysteroid 17-beta dehydrogenase 3 [Source:HGNC Symbol;Acc:HGNC:5212] |
| Ensembl ID | ENSG00000130948 |
| Bio databases IDs | |
| Aliases | hydroxysteroid 17-beta dehydrogenase 3, short chain dehydrogenase/reductase family 12C, member 2 |
| Synonyms | 17 Beta hsd3, 17 Beta hsd III, 17 Beta Hydroxylsteroid Dehydrogenase III, 17 β hsd3, 17 β hsd III, 17 β Hydroxylsteroid Dehydrogenase III, EDH17B3, hydroxysteroid (17-beta) dehydrogenase 3, hydroxysteroid 17-beta dehydrogenase 3, hydroxysteroid (17-β) dehydrogenase 3, hydroxysteroid 17-β dehydrogenase 3, SDR12C2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HSD17B3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- 3(or 17)beta-hydroxysteroid dehydrogenase
- 3alpha(17beta)-hydroxysteroid dehydrogenase (NAD)
- estradiol 17beta-dehydrogenase
- testosterone 17beta-dehydrogenase (NADP)
- enzyme
- protein binding
- short chain dehydrogenase
Pathways
Biological processes and signaling networks where the HSD17B3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- testosterone 17-beta-dehydrogenase deficiency
- pseudohermaphroditism
- hereditary disorder
- disorder of sex development
- juvenile myoclonic epilepsy
- weight gain
role in cell
- morphology
- reduction in
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD17B3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- androgen biosynthetic process
- male genitalia development
- steroid biosynthetic process
- testosterone biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- estradiol 17-beta-dehydrogenase activity
- 17-beta-hydroxysteroid dehydrogenase (NADP+) activity
- testosterone dehydrogenase [NAD(P)] activity
- testosterone 17-beta-dehydrogenase (NADP+) activity