Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3283
Gene name	Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Gene symbol	HSD3B1
Synonyms (NCBI Gene)	3BETAHSDHSD3BHSDB3HSDB3ASDR11E1
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

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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006074	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006074	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006074	hsa-miR-492	MicroarrayqRT-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

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Transcription factor	Regulation	Reference
NR5A1	Unknown	23530236
SP1	Activation	8584035

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000253	Function	3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	IDA	1401999
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	IEA
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	ISS	1944309
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	TAS	1401999
GO:0004769	Function	Steroid Delta-isomerase activity	IDA	1401999
GO:0004769	Function	Steroid Delta-isomerase activity	IEA
GO:0004769	Function	Steroid Delta-isomerase activity	ISS	1944309
GO:0004769	Function	Steroid Delta-isomerase activity	TAS	1401999
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	8274411
GO:0005758	Component	Mitochondrial intermembrane space	IDA	8274411
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005929	Component	Cilium	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IBA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	ISS	1944309
GO:0006694	Process	Steroid biosynthetic process	TAS	1401999
GO:0006701	Process	Progesterone biosynthetic process	IDA	1401999
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	TAS	1944309
GO:0006703	Process	Estrogen biosynthetic process	TAS	1944309
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008207	Process	C21-steroid hormone metabolic process	IBA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030868	Component	Smooth endoplasmic reticulum membrane	ISS
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0047024	Function	5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activity	IEA

MIM	HGNC	e!Ensembl
109715	5217	ENSG00000203857

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

Tissue specificity

TISSUE SPECIFICITY: Placenta and skin (PubMed:1401999). Predominantly expressed in mammary gland tissue. {ECO:0000269|PubMed:1401999}.

Sequence

MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLE
GDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVF
IYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTL
YTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRAL
QDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEI
VSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSL
VDRHKETLKSKTQ

Sequence length

373

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome		Androgen biosynthesis Mineralocorticoid biosynthesis Glucocorticoid biosynthesis

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Androgen deprivation therapy response	Benign; drug response	rs1047303	RCV004699172 RCV000760965

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Inhibit	31530576
Acth Independent Macronodular Adrenal Hyperplasia	Associate	8528359
ACTH Secreting Pituitary Adenoma	Associate	35563252
Adenoma	Associate	21521926, 35563252
Adrenal Gland Neoplasms	Associate	21521926, 9392354
Alopecia	Associate	31056381
Asthma	Associate	35521709
Asymptomatic Infections	Associate	21521926
Atherosclerosis	Associate	15758566
Breast Neoplasms	Associate	12205101, 12832414, 18955108, 20420909, 27139182, 34520399, 35947687, 40565184
Calcinosis Cutis	Associate	30794306, 32053149, 32791030, 39286977
Colorectal Neoplasms	Associate	36362361
COVID 19	Associate	34718118, 35521709
Dry Eye Syndromes	Inhibit	37117756
Endometrial Neoplasms	Associate	35947687, 40565184
Endometriosis	Associate	18815356
Glioblastoma	Associate	34505421
HAIR AN syndrome	Associate	36932437
Hyperaldosteronism	Associate	24423300, 24531914, 25458695
Hyperplasia	Associate	24423300
Hypertension	Associate	35795973
Hypospadias	Associate	32515122
Inflammation	Associate	35521709
Meibomian Gland Dysfunction	Associate	37117756
Myopia	Associate	21921981
Neoplasm Metastasis	Associate	18519708, 29049492
Neoplasms	Associate	23318910, 27430645, 29939161, 31745256, 34321053, 35947687, 37009898, 40565184, 8732455
Oculocerebrorenal Syndrome	Associate	39286977
Ovarian Neoplasms	Associate	28391539, 8557160
Overweight	Associate	31056381
Polycystic Ovary Syndrome	Inhibit	10813104
Polycystic Ovary Syndrome	Associate	31056381, 36932437
Pre Eclampsia	Associate	23667551, 33537808
Prostate cancer familial	Associate	35947687
Prostatic Hyperplasia	Associate	35795973
Prostatic Neoplasms	Associate	18782595, 25731771, 27575027, 29049492, 29939161, 30794306, 31745256, 32053149, 32387417, 32574722, 32791030, 35795973, 36647834, 37009898, 37966114, 39286977 View all (1 more)
Prostatic Neoplasms Castration Resistant	Associate	18519708, 25731771, 27575027, 29049452, 31745256, 32053149, 32387417, 32574722, 32791030, 36647826, 39337362
Prostatitis	Associate	35947687
Sjogren's Syndrome	Associate	19298523
Stomach Neoplasms	Associate	27893427
Trophoblastic Neoplasms	Associate	23318910

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