HSD3B7: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

HSD3B7

Aliases

CBAS1, PFIC4, SDR11E3

Entrez Gene ID

80270

Gene Name

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Chromosomal Location

16p11.2

HGNC ID

HGNC:18324

Summary

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 protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

RefSeq DNA

NG_012346.1

RefSeq mRNA

NM_025193.4, NM_001142777.2, NM_001142778.2

e!Ensembl

Gene	ENSG00000099377
Transcript	ENST00000262520, ENST00000297679, ENST00000562932, ENST00000574447
Protein	ENSP00000262520, ENSP00000297679, ENSP00000459852, ENSP00000459689

Gene Ontology (GO)

Show/Hide all(7 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006699	Biological process	Bile acid biosynthetic process	TAS	11067870
GO:0006707	Biological process	Cholesterol catabolic process	IBA	21873635
GO:0003854	Molecular function	3-beta-hydroxy-delta5-steroid dehydrogenase activity	NAS	11067870
GO:0005515	Molecular function	Protein binding	IPI	25416956
GO:0016491	Molecular function	Oxidoreductase activity	IBA	21873635
GO:0016616	Molecular function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	21873635
GO:0047016	Molecular function	Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	IBA	21873635

Protein Information

Protein Name

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-beta,7-alpha-diol 3-beta-dehydrogenase, short chain dehydrogenase/reductase family 11E, member 3

Function

The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells.

Refseq Proteins

NP_079469.2, NP_001136249.1, NP_001136250.1

UniProt

Q9H2F3

Pfam

Pfam Accession	Pfam ID
PF01073	3Beta_HSD