• Gene id: 80270

Gene Summary

• Gene Symbol: HSD3B7   Gene   UCSC   Ensembl
• Aliases: CBAS1, PFIC4, SDR11E3
• Gene name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
• Alternate names: 3 beta-hydroxysteroid dehydrogenase type 7, 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase, 3 beta-hydroxysteroid dehydrogenase type VII, 3-beta-HSD VII, 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase, C(27)-3BETA-HSD, c(27) 3-beta-HSD, cholest-5-ene-3-be,
• Gene location: 16p11.2 (30985188: 30989151)     Exons: 7     NC_000016.10
• Gene summary(Entrez): This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum pro
• OMIM: 607764

Protein Summary

• Protein general information: Q9H2F3  
  • Name: 3 beta hydroxysteroid dehydrogenase type 7 (3 beta hydroxysteroid dehydrogenase type VII) (3 beta HSD VII) (3 beta hydroxy Delta(5) C27 steroid oxidoreductase) (C(27) 3 beta HSD) (EC 1.1.1. ) (Cholest 5 ene 3 beta,7 alpha diol 3 beta dehydrogenase) (EC 1.
  • Length: 369  
  • Mass: 41016
• Sequence:

  MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRVTAIQGDVTQAHEVAA
  AVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTP
  YEAVHRHPYPCSKALAEWLVLEANGRKVRGGLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVE
  HGRVYVGNVAWMHVLAARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
  LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILWVQAATGSAQ

• Structural information:
  • Interpro: IPR002225  IPR036291  
  • STRING: ENSP00000297679
• Other Databases: GeneCards:  HSD3B7  Malacards:  HSD3B7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	molecular function
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0047016	cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	ISS	molecular function
GO:0035754	B cell chemotaxis	ISS	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0047016	cholest-5-ene-3-beta,7-alpha-diol 3-beta-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	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
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:0006699	bile acid biosynthetic process	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035754	B cell chemotaxis	IEA	biological process
GO:0047016	cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	NAS	molecular function
GO:0006699	bile acid biosynthetic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00120	Primary bile acid biosynthesis

Diseases

Associated diseases	References
Congenital bile acid synthesis defect	KEGG:H00628
Congenital bile acid synthesis defect	KEGG:H00628
Intrahepatic cholestasis	PMID:12679481
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq