HSD3B1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | MIM:109715 | Ensembl:ENSG00000203857 | HGNC:HGNC:5217 | PA29486 | 1p12 |
Gene Categories:
DRUGGABLE GENOMEGO terms in HSD3B1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0003854 | 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| MF | ISS | GO:0003854 | 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| MF | TAS | GO:0003854 | 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| MF | ISS | GO:0004769 | steroid delta-isomerase activity |
| MF | TAS | GO:0004769 | steroid delta-isomerase activity |
| MF | IBA | GO:0016491 | oxidoreductase activity |
| MF | IBA | GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor |
| MF | IEA | GO:0102294 | cholesterol dehydrogenase activity |
| BP | IBA | GO:0006694 | steroid biosynthetic process |
| BP | ISS | GO:0006694 | steroid biosynthetic process |
| BP | TAS | GO:0006702 | androgen biosynthetic process |
| BP | TAS | GO:0006703 | estrogen biosynthetic process |
| BP | TAS | GO:0006704 | glucocorticoid biosynthetic process |
| BP | TAS | GO:0006705 | mineralocorticoid biosynthetic process |
| BP | IBA | GO:0008207 | C21-steroid hormone metabolic process |
| BP | IBA | GO:0021766 | hippocampus development |
| BP | IBA | GO:0051412 | response to corticosterone |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005743 | mitochondrial inner membrane |
| CC | IDA | GO:0005758 | mitochondrial intermembrane space |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IBA | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | ISS | GO:0030868 | smooth endoplasmic reticulum membrane |
| CC | IBA | GO:0043231 | intracellular membrane-bounded organelle |
Gene expression in normal tissue: HSD3B1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HSD3B1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-193048 | Androgen biosynthesis |
| reactome | R-HSA-193993 | Mineralocorticoid biosynthesis |
| reactome | R-HSA-194002 | Glucocorticoid biosynthesis |
| reactome | R-HSA-196071 | Metabolism of steroid hormones |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-8957322 | Metabolism of steroids |
| wikipathways | WP2263 | Androgen Receptor Network in Prostate Cancer |
| wikipathways | WP2355 | Corticotropin-releasing hormone signaling pathway |
| wikipathways | WP237 | Glucocorticoid and Mineralcorticoid Metabolism |
| wikipathways | WP496 | Steroid Biosynthesis |
| smpdb | SMP00068 | Androgen and Estrogen Metabolism |
| smpdb | SMP00130 | Steroidogenesis |
| smpdb | SMP00356 | 17-Beta Hydroxysteroid Dehydrogenase III Deficiency |
| smpdb | SMP00371 | Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH |
| smpdb | SMP00372 | Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia due to 17 Alpha-hydroxylase Deficiency |
| smpdb | SMP00373 | Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency |
| smpdb | SMP00565 | Aromatase deficiency |
| smpdb | SMP00566 | 17-alpha-hydroxylase deficiency (CYP17) |
| smpdb | SMP00575 | 11-beta-hydroxylase deficiency (CYP11B1) |
| smpdb | SMP00576 | 21-hydroxylase deficiency (CYP21) |
| smpdb | SMP00577 | Corticosterone methyl oxidase I deficiency (CMO I) |
| smpdb | SMP00578 | Corticosterone methyl oxidase II deficiency - CMO II |
| smpdb | SMP00717 | Apparent mineralocorticoid excess syndrome |
| smpdb | SMP00718 | 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
| kegg | hsa00140 | Steroid hormone biosynthesis - Homo sapiens (human) |
| kegg | hsa04913 | Ovarian steroidogenesis - Homo sapiens (human) |
| kegg | hsa04925 | Aldosterone synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04927 | Cortisol synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| humancyc | PWY-7299 | progesterone biosynthesis |
| humancyc | PWY-7305 | superpathway of steroid hormone biosynthesis |
| humancyc | PWY66-378 | androgen biosynthesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HSD3B1
CLASSFICATION
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