HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)

Gene

• Entrez ID: 3283
• Gene name: Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
• Gene symbol: HSD3B1
• Synonyms: 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
• Chromosome: 1
• Chromosome location: 1p12
• Summary: The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyz

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1047303	C>A,G,T	Drug-response	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006074	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006074	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006074	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT029754	hsa-miR-26b-5p	Microarray	19088304
MIRT650607	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT650606	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT650605	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT650603	hsa-miR-4729	HITS-CLIP	23824327
MIRT650604	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT650602	hsa-miR-5696	HITS-CLIP	23824327
MIRT650601	hsa-miR-3658	HITS-CLIP	23824327
MIRT650607	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT650606	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT650605	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT650603	hsa-miR-4729	HITS-CLIP	23824327
MIRT650604	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT650602	hsa-miR-5696	HITS-CLIP	23824327
MIRT650601	hsa-miR-3658	HITS-CLIP	23824327
MIRT1055477	hsa-miR-1197	CLIP-seq
MIRT1055478	hsa-miR-1248	CLIP-seq
MIRT1055479	hsa-miR-194	CLIP-seq
MIRT1055480	hsa-miR-2114	CLIP-seq
MIRT1055481	hsa-miR-3117-3p	CLIP-seq
MIRT1055482	hsa-miR-3120-3p	CLIP-seq
MIRT1055483	hsa-miR-3124-3p	CLIP-seq
MIRT1055484	hsa-miR-3147	CLIP-seq
MIRT1055485	hsa-miR-3686	CLIP-seq
MIRT1055486	hsa-miR-4425	CLIP-seq
MIRT1055487	hsa-miR-4640-5p	CLIP-seq
MIRT1055488	hsa-miR-4652-3p	CLIP-seq
MIRT1055489	hsa-miR-4717-3p	CLIP-seq
MIRT1055490	hsa-miR-4726-5p	CLIP-seq
MIRT1055491	hsa-miR-4742-3p	CLIP-seq
MIRT1055492	hsa-miR-4774-5p	CLIP-seq
MIRT1055493	hsa-miR-545	CLIP-seq
MIRT1055494	hsa-miR-578	CLIP-seq
MIRT1055495	hsa-miR-668	CLIP-seq
MIRT1055496	hsa-miR-938	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR5A1	Unknown	23530236
SP1	Activation	8584035

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000253	Function	3-keto sterol reductase activity	IEA
GO:0003854	Function	3-beta-hydroxy-delta5-steroid dehydrogenase activity	ISS	1944309
GO:0004769	Function	Steroid delta-isomerase activity	ISS	1944309
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	IDA	8274411
GO:0005758	Component	Mitochondrial intermembrane space	IDA	8274411
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006694	Process	Steroid biosynthetic process	IBA	21873635
GO:0006694	Process	Steroid biosynthetic process	ISS	1944309
GO:0006702	Process	Androgen biosynthetic process	TAS	1944309
GO:0006703	Process	Estrogen biosynthetic process	TAS	1944309
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0006705	Process	Mineralocorticoid biosynthetic process	TAS
GO:0008207	Process	C21-steroid hormone metabolic process	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	21873635
GO:0021766	Process	Hippocampus development	IBA	21873635
GO:0030868	Component	Smooth endoplasmic reticulum membrane	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045171	Component	Intercellular bridge	IDA
GO:0047024	Function	5alpha-androstane-3beta,17beta-diol dehydrogenase activity	IEA
GO:0051412	Process	Response to corticosterone	IBA	21873635
GO:0102294	Function	Cholesterol dehydrogenase activity	IEA

Other IDs

• MIM: 109715
• HGNC: 5217
• e!Ensembl: ENSG00000203857

Protein

• UniProt ID: P14060
• Protein name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I) (3-beta-HSD I) (3-beta-hydroxy-5-ene steroid dehydrogenase) (3-beta-hydroxy-Delta(5)-steroid dehydrogenase) (EC 1.1.1.145)
• Protein function: A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01073	3Beta_HSD	7 → 288	3-beta hydroxysteroid dehydrogenase/isomerase family	Family

• Sequence:

  MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLE
  GDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVF
  IYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTL
  YTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRAL
  QDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEI
  VSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSL
  VDRHKETLKSKTQ

• Sequence length: 373

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome

Reactome:

Androgen biosynthesis
Mineralocorticoid biosynthesis
Glucocorticoid biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17826523

Unknown
Disease name	Disease term	dbSNP ID	References
Sclerocystic ovaries	Sclerocystic Ovaries		22381227
Polycystic ovary syndrome	Polycystic Ovary Syndrome		22381227
Prostatic neoplasms	Prostatic Neoplasms		17826523