HSD3B1

Identifiers

HSD3B1, 3BETAHSD, HSD3B, HSDB3, HSDB3A, I, SDR11E1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

External IDs

MGI: 96235 HomoloGene: 133013 GeneCards: HSD3B1

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
Cellular component	• integral component of membrane • membrane • mitochondrial membrane • mitochondrial intermembrane space • smooth endoplasmic reticulum membrane • endoplasmic reticulum • mitochondrion • mitochondrial inner membrane • endoplasmic reticulum membrane
Biological process	• estrogen biosynthetic process • androgen biosynthetic process • glucocorticoid biosynthetic process • mineralocorticoid biosynthetic process • metabolic process • oxidation-reduction process • steroid biosynthetic process
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


3283


15494

Ensembl


ENSG00000203857


ENSMUSG00000062410

UniProt


P14060


P26150

RefSeq (mRNA)


NM_000862 NM_001328615


NM_001012306 NM_001161742 NM_001161743 NM_001161744 NM_001161745

RefSeq (protein)


NP_000853 NP_001315544


NP_001012306 NP_001155214 NP_001155215 NP_001155216 NP_001155217

Location (UCSC)

Chr 1: 119.51 – 119.52 Mb

Chr 3: 98.74 – 98.76 Mb

PubMed search

NM_000862
NM_001328615

NM_001012306
NM_001161742
NM_001161743
NM_001161744
NM_001161745

NP_000853
NP_001315544

NP_001012306
NP_001155214
NP_001155215
NP_001155216
NP_001155217

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.

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