• Gene id: 3283

Gene Summary

• Gene Symbol: HSD3B1   Gene   UCSC   Ensembl
• Aliases: 3BETAHSD, HSD3B, HSDB3, HSDB3A, I, SDR11E1
• Gene name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
• Alternate names: 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, delta-5-3-ketoster,
• Gene location: 1p12 (119507202: 119515057)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 109715

Protein Summary

• Protein general information: P14060  
  • 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) (Trophoblast antigen FDO161G) [Includes: 3 beta hydroxy Delta(5) steroid dehydrogenase (EC 1.1.1.145) (3 bet
  • Length: 373  
  • Mass: 42,252
• Sequence:

  MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLEGDILDEPFLKRACQD
  VSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENT
  WPAPYPHSKKLAEKAVLAANGWNLKNGGTLYTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVY
  VGNVAWAHILALRALQDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEI
  VSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ

• Structural information:
  • Interpro: IPR002225  IPR036291  
  • STRING: ENSP00000358421
• Other Databases: GeneCards:  HSD3B1  Malacards:  HSD3B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	ISS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	ISS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	ISS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030868	smooth endoplasmic reticulum membrane	ISS	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	ISS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	IEA	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	ISS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006694	steroid biosynthetic process	ISS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0030868	smooth endoplasmic reticulum membrane	ISS	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	ISS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	ISS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006694	steroid biosynthetic process	ISS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0030868	smooth endoplasmic reticulum membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03022	Basal transcription factors
hsa03015	mRNA surveillance pathway
hsa03015	mRNA surveillance pathway
hsa04012	ErbB signaling pathway
hsa04913	Ovarian steroidogenesis
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cancer	GAD: 19574343
Cancer (bladder)	GAD: 19692168
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18636124
Cancer (prostate)	GAD: 11912155
Cancer (esophageal)	GAD: 20453000
Cancer (breast)	GAD: 20214802
Hypertension	GAD: 15097232
Obesity	GAD: 20734064
Diabetes	GAD: 19148546
Bone diseases	GAD: 19453261
Chronic renal failure	GAD: 21085059
Polycystic ovary syndrome (PCOS)	INFBASE: 23122578
Endometriosis	INFBASE: 19001523
Female infertility	INFBASE: 11893012
Premature ovarian failure (POF)	INFBASE: 11739460
Male pseudohermaphroditism	MIK: 7608265
Precocious puberty	MIK: 8185809
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Male pseudohermaphroditism without salt loss	MIK: 8060486
Male pseudohermaphroditism	MIK: 7608265
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
7608265	Male pseudohermaphroditism	Asn100 to Ser in exon 3 of his type II 3 beta HSD gene			Male infertility
8060486	Male pseudohermaphroditism without salt loss	L173R		1 XY pseudohermaphrodite	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)