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

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3283
• Gene name: Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
• Gene symbol: HSD3B1
• Synonyms (NCBI Gene): 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 Show/Hide all (38)

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) Show/Hide all (44)

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

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

• 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

Pathways

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Androgen deprivation therapy response	Benign; drug response	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	22381227	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	17826523	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (67)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	24157973		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	24157973		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24951726		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	31056381		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	10770215		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	23780684		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35521709	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15758566	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23284679		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25421376, 28744792, 31004874		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12205101, 12832414, 18955108, 20420909, 27139182, 34520399, 35947687, 40565184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18223326		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23284679		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	18223326		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36362361	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	10843183, 12428206, 15585552		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	LHGDN	12050213		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	17496421		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	25458695		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	28863887		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19148546		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19148546		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	37117756	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23200943		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35947687, 40565184	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	18815356		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	18815356	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	20660004		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	20056642		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34505421	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24423300, 24531914, 25458695	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	28863887		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	24423300	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35795973	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24951726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	Pubtator	32515122	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	20660004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25421376, 28744792, 31004874		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23200943		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11912155, 17826523, 19505920, 20534728, 27575027, 29049492, 29231195, 29674118, 29850791, 29939161, 31271415		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17826523		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28521442		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23284679		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	10770215		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15291757		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28744792		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29850791		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	21921981	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18223326, 28744792, 29231195, 31745256		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	39286977	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28391539, 8557160	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	10813104	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	14764797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	22381227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31056381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31056381, 36932437	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer familial	Prostate cancer	Pubtator	35947687	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11912155, 17826523, 19505920, 20534728, 27575027, 29049492, 29231195, 29674118, 29850791, 29939161, 31271415		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	35795973	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17826523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17826523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18782595, 25731771, 27575027, 29049492, 29939161, 30794306, 31745256, 32053149, 32387417, 32574722, 32791030, 35795973, 36647834, 37009898, 37966114, 39286977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	22381227		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	21921981		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	19298523	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28521442		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27893427	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ARHGAP30 1 shared diseasePolycystic ovary syndrome 2 shared evidence sourcesCTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 1 shared disease including Polycystic ovary syndrome — evidence mostly CTD. CARMIL3 1 shared diseasePolycystic ovary syndrome 2 shared evidence sourcesCTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 1 shared disease including Polycystic ovary syndrome — evidence mostly CTD. DACT3 1 shared diseasePolycystic ovary syndrome 2 shared evidence sourcesCTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 1 shared disease including Polycystic ovary syndrome — evidence mostly CTD. DCBLD2 1 shared diseasePolycystic ovary syndrome 2 shared evidence sourcesCTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 1 shared disease including Polycystic ovary syndrome — evidence mostly CTD. ELAVL3 1 shared diseasePolycystic ovary syndrome 2 shared evidence sourcesCTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 1 shared disease including Polycystic ovary syndrome — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ARHGAP30	1	["Polycystic ovary syndrome"]	0	[]	2	["CTD (Polycystic ovary syndrome)","Disgenet (Polycystic ovary syndrome)"]
CARMIL3	1	["Polycystic ovary syndrome"]	0	[]	2	["CTD (Polycystic ovary syndrome)","Disgenet (Polycystic ovary syndrome)"]
DACT3	1	["Polycystic ovary syndrome"]	0	[]	2	["CTD (Polycystic ovary syndrome)","Disgenet (Polycystic ovary syndrome)"]
DCBLD2	1	["Polycystic ovary syndrome"]	0	[]	2	["CTD (Polycystic ovary syndrome)","Disgenet (Polycystic ovary syndrome)"]
ELAVL3	1	["Polycystic ovary syndrome"]	0	[]	2	["CTD (Polycystic ovary syndrome)","Disgenet (Polycystic ovary syndrome)"]

Diseases Linked via Similar Genes

Intellectual developmental disorder Linked via 1 of 5 related genesDACT3 Stomach neoplasms Linked via 1 of 5 related genesDCBLD2 Alzheimer disease Linked via 1 of 5 related genesELAVL3 Oligodendroglioma Linked via 1 of 5 related genesELAVL3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Intellectual developmental disorder	1	["DACT3"]
Stomach neoplasms	1	["DCBLD2"]
Alzheimer disease	1	["ELAVL3"]
Oligodendroglioma	1	["ELAVL3"]