Gene/Proteome Database (LMPD)
LMPD ID
LMP002194
Gene ID
Species
Homo sapiens (Human)
Gene Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Gene Symbol
Synonyms
HSD3B; HSDB; SDR11E2
Alternate Names
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3-beta-HSD II; 3 beta-HSD type II; progesterone reductase; delta 5-delta 4-isomerase type II; 3-beta-HSD adrenal and gonadal type; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; short chain dehydrogenase/reductase family 11E, member 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II
Chromosome
1
Map Location
1p13.1
EC Number
1.1.1.145
Summary
The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
Orthologs
Proteins
| 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 | |
|---|---|
| Refseq ID | NP_001159592 |
| Protein GI | 260763931 |
| UniProt ID | P26439 |
| mRNA ID | NM_001166120 |
| Length | 372 |
| RefSeq Status | REVIEWED |
| MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ | |
Gene Information
Entrez Gene ID
Gene Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | NAS:UniProtKB | C | endoplasmic reticulum |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | NAS:UniProtKB | C | integral component of membrane |
| GO:0005743 | ISS:UniProtKB | C | mitochondrial inner membrane |
| GO:0005758 | ISS:UniProtKB | C | mitochondrial intermembrane space |
| GO:0031966 | NAS:UniProtKB | C | mitochondrial membrane |
| GO:0030868 | ISS:UniProtKB | C | smooth endoplasmic reticulum membrane |
| GO:0003854 | IDA:UniProtKB | F | 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| GO:0004769 | IDA:UniProtKB | F | steroid delta-isomerase activity |
| GO:0006702 | TAS:Reactome | P | androgen biosynthetic process |
| GO:0006704 | TAS:Reactome | P | glucocorticoid biosynthetic process |
| GO:0006705 | TAS:Reactome | P | mineralocorticoid biosynthetic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006694 | IDA:UniProtKB | P | steroid biosynthetic process |
| GO:0008202 | TAS:Reactome | P | steroid metabolic process |
KEGG Pathway Links
Domain Information
UniProt Annotations
Entry Information
Gene Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Protein Entry
3BHS2_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P26439-1; Sequence=Displayed; Name=2; IsoId=P26439-2; Sequence=VSP_037399, VSP_037400; |
| Catalytic Activity | A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH. |
| Catalytic Activity | A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)- steroid. |
| Disease | Adrenal hyperplasia 2 (AH2) [MIM |
| Disease | Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion. |
| Function | 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. |
| Pathway | Lipid metabolism; steroid biosynthesis. |
| Sequence Caution | Sequence=AAC60600.1; Type=Frameshift; Positions=186; Note=The frameshift is caused by a single nucleotide insertion which is found in AH2.; Evidence= ; |
| Similarity | Belongs to the 3-beta-HSD family. |
| Subcellular Location | Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein. |
| Tissue Specificity | Expressed in adrenal gland, testis and ovary. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002194 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 260763931 | RefSeq | NP_001159592 | 372 | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 |
Identical Sequences to LMP002194 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:260763931 | GenBank | EAW56702.1 | 372 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2, isoform CRA_a [Homo sapiens] |
| GI:260763931 | GenBank | ABM82690.1 | 372 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [synthetic construct] |
| GI:260763931 | GenBank | ABM85874.1 | 372 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2, partial [synthetic construct] |
| GI:260763931 | GenBank | AAI31489.1 | 372 | HSD3B2 protein [Homo sapiens] |
| GI:260763931 | GenBank | AHD69507.1 | 372 | Sequence 521 from patent US 8586006 |
| GI:260763931 | GenBank | AIC48983.1 | 372 | HSD3B2, partial [synthetic construct] |
Related Sequences to LMP002194 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:260763931 | DBBJ | BAD96717.1 | 372 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 variant, partial [Homo sapiens] |
| GI:260763931 | DBBJ | BAG36207.1 | 372 | unnamed protein product [Homo sapiens] |
| GI:260763931 | GenBank | ACM84623.1 | 416 | Sequence 10121 from patent US 6812339 |
| GI:260763931 | RefSeq | XP_513690.2 | 372 | PREDICTED: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 [Pan troglodytes] |
| GI:260763931 | RefSeq | XP_008950342.1 | 372 | PREDICTED: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 [Pan paniscus] |
| GI:260763931 | RefSeq | XP_009426536.1 | 372 | PREDICTED: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 [Pan troglodytes] |