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HSD3B1

Protein-coding gene in the species Homo sapiens

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; OMA:HSD3B1 - orthologs
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 98,712,820 bp[2] End 98,721,759 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta decidua skin of thigh vulva right adrenal cortex left adrenal gland left adrenal cortex mucosa of transverse colon mucosa of ileum islet of Langerhans Top expressed in adrenal gland genital tubercle placenta adrenal medulla testicle embryo yolk sac tail of embryo secondary oocyte pallidum of neuraxis More reference expression data BioGPS 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 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: 98.71 – 98.72 Mb PubMed search [3] [4]
Wikidata
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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.

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]

^[1]

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.