HSD3B1

 HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1.^[5] While it can carry out the same function as HSD3B2, it localizes primarily to different tissues, such as the placenta and nonsteroidogenic tissues. Its requirement for the production of progesterone by the placenta, which has a vital role in pregnancy, may be one reason why no disease based on mutations in this gene has been identified to date, besides prostate cancer.

HSD3B1
Identifiers
Aliases	HSD3B1, 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
External IDs	OMIM: 109715 MGI: 109598 HomoloGene: 133013 GeneCards: HSD3B1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p12 Start 119,507,198 bp[1] End 119,515,054 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.2 Start 98,805,504 bp[2] End 98,814,443 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor • isomerase activity • catalytic activity • oxidoreductase activity • steroid delta-isomerase activity • 3-beta-hydroxy-delta5-steroid dehydrogenase activity • cholesterol dehydrogenase activity • 3-keto sterol reductase activity • 5alpha-androstane-3beta,17beta-diol dehydrogenase activity Cellular component • integral component of membrane • membrane • mitochondrial membranes • mitochondrial intermembrane space • smooth endoplasmic reticulum membrane • endoplasmic reticulum • mitochondrion • mitochondrial inner membrane • endoplasmic reticulum membrane • intracellular membrane-bounded organelle Biological process • estrogen biosynthetic process • androgen biosynthetic process • glucocorticoid biosynthetic process • mineralocorticoid biosynthetic process • metabolism • oxidation-reduction process • steroid biosynthetic process • C21-steroid hormone metabolic process • hippocampus development • response to corticosterone • lipid metabolism • steroid metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3283	15497
Ensembl	ENSG00000203857	ENSMUSG00000027869
UniProt	P14060	O35469
RefSeq (mRNA)	NM_000862 NM_001328615	NM_013821
RefSeq (protein)	NP_000853 NP_001315544	NP_038849
Location (UCSC)	Chr 1: 119.51 – 119.52 Mb	Chr 3: 98.81 – 98.81 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical significanceEdit

The 1245C allele encodes for a missense and hyperactive enzyme that increases extragonadal androgen synthesis and is associated with poorer outcomes after androgen deprivation therapy in prostate cancer.^[6][7]

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.