HSD3B1

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)
End	119,515,054 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	98,721,759 bp
RNA expression pattern
	Top expressed in
	placenta; ; vulva; ; left adrenal gland; ; islet of Langerhans; ; monocyte; ; right lung; ; nipple; ; right coronary artery; ; skin of abdomen; ; smooth muscle tissue;
	Top expressed in
	adrenal gland; ; placenta; ; adrenal medulla; ; testicle; ; yolk sac; ; secondary oocyte; ; blood vessel; ; lip; ; superior colliculus; ; pretectal area;
	More reference expression data
	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; steroid biosynthetic process; C21-steroid hormone metabolic process; hippocampus development; response to corticosterone; lipid metabolism; steroid metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	3283
	15497
	ENSG00000203857
	ENSMUSG00000027869
	P14060
	O35469
	NM_000862; NM_001328615
	NM_013821
	NP_000853; NP_001315544
	NP_038849
	Wikidata
View/Edit Human	View/Edit Mouse

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. 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.

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