UniProt Protein Function: | HSD3B7: 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. Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1); also known as neonatal progressive intrahepatic cholestasis. CBAS1 is due to a primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis and cirrhosis. Belongs to the 3-beta-HSD family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Membrane protein, multi-pass; Membrane protein, integral; EC 1.1.1.181; Lipid Metabolism - primary bile acid biosynthesis; Oxidoreductase Chromosomal Location of Human Ortholog: 16p11.2 Cellular Component: endoplasmic reticulum membrane; integral to membrane Molecular Function:3-beta-hydroxy-delta5-steroid dehydrogenase activity; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity; protein binding Biological Process: bile acid biosynthetic process; bile acid metabolic process Disease: Bile Acid Synthesis Defect, Congenital, 1 |
NCBI 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] |
UniProt Code: | Q9H2F3 |
NCBI GenInfo Identifier: | 47605550 |
NCBI Gene ID: | 80270 |
NCBI Accession: | Q9H2F3.2 |
UniProt Secondary Accession: | Q9H2F3,Q96M28, Q9BSN9, |
UniProt Related Accession: | Q9H2F3 |
Molecular Weight: | 21,322 Da |
NCBI Full Name: | 3 beta-hydroxysteroid dehydrogenase type 7 |
NCBI Synonym Full Names: | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
NCBI Official Symbol: | HSD3B7 |
NCBI Official Synonym Symbols: | CBAS1; PFIC4; SDR11E3 |
NCBI Protein Information: | 3 beta-hydroxysteroid dehydrogenase type 7 |
UniProt Protein Name: | 3 beta-hydroxysteroid dehydrogenase type 7 |
UniProt Synonym Protein Names: | 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase (EC:1.1.1.-); C(27) 3-beta-HSD; Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase (EC:1.1.1.181) |
Protein Family: | 3 beta-hydroxysteroid dehydrogenase |
UniProt Gene Name: | HSD3B7 |
UniProt Entry Name: | 3BHS7_HUMAN |