HSD3B1 Gene Summary [Human]
The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]
Details
| Type | Protein Coding |
| Official Symbol | HSD3B1 |
| Official Name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [Source:HGNC Symbol;Acc:HGNC:5217] |
| Ensembl ID | ENSG00000203857 |
| Bio databases IDs | |
| Aliases | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1, short chain dehydrogenase/reductase family 11E, member 1 |
| Synonyms | 3BETAHSD, 3beta-HSD-1, 3-beta-HSD I, 3beta HSD type1, 3beta-Hydroxysteroid dehydrogenase type 1, 3BH, 3b-HSD type I isoform, 3-β-HSD I, 3β-Hydroxysteroid dehydrogenase type 1, D3Ertd383e, HSD3B, HSDB1, HSDB3, HSDB3A, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1, hydroxysteroid dehydrogenase-1 delta-5-3-beta, hydroxysteroid dehydrogenase-1 δ-5-3-β, hydroxy-δ-5-steroid dehydrogenase, 3 β- and steroid δ-isomerase 1, SDR11E1 |
| 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 HSD3B1 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
- NAD or NADH binding
- 3(or 17)beta-hydroxysteroid dehydrogenase
- Male sterility protein
- 3-beta hydroxysteroid dehydrogenase/isomerase family
- 3beta-hydroxy-delta5-steroid dehydrogenase
- steroid D-isomerase
- NAD dependent epimerase/dehydratase family
- enzyme
- protein binding
- steroid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- Cushing syndrome
- psoriasis
- atopic dermatitis
- senile lentigo
- castration refractory prostate cancer
regulates
- testosterone
- progesterone
- pregnenolone
- androstenedione
- dihydrotestosterone
- dehydroisoandrosterone
- HSD3B1
- 3-beta,17-beta-androstanediol
- androstenediol
- estrogen
role in cell
- production in
- upregulation in
- conversion in
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
- microtubule cytoskeleton
- cilia
- Endoplasmic Reticulum
- cytoplasmic bridges
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrial intermembrane space
- mitochondrial inner membrane
- nuclear pores
- nucleoli
- smooth endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD3B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- estrogen biosynthetic process
- response to corticosterone stimulus
- androgen biosynthetic process
- hippocampus development
- steroid biosynthetic process
- C21-steroid hormone metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- smooth endoplasmic reticulum membrane
- intercellular bridge
- mitochondrial intermembrane space
- cytoplasm
- intracellular membrane-bounded organelle
- endoplasmic reticulum
- nucleolus
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- 3-keto sterol reductase activity
- 3-beta-hydroxy-delta5-steroid dehydrogenase activity
- protein binding
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
- steroid delta-isomerase activity
- 5alpha-androstane-3beta,17beta-diol dehydrogenase activity