ID:3BHS7_HUMAN DESCRIPTION: RecName: Full=3 beta-hydroxysteroid dehydrogenase type 7; AltName: Full=3 beta-hydroxysteroid dehydrogenase type VII; Short=3-beta-HSD VII; AltName: Full=3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; Short=C(27) 3-beta-HSD; EC=1.1.1.-; AltName: Full=Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; EC=1.1.1.181; 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. CATALYTIC ACTIVITY: 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = 3- oxo-Delta(5)-steroid + NADH. CATALYTIC ACTIVITY: Cholest-5-ene-3-beta,7-alpha-diol + NAD(+) = 7-alpha-hydroxycholest-4-en-3-one + NADH. PATHWAY: Lipid metabolism; steroid biosynthesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. DISEASE: Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]; 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. SIMILARITY: Belongs to the 3-beta-HSD family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01073 - 3-beta hydroxysteroid dehydrogenase/isomerase family
ModBase Predicted Comparative 3D Structure on Q9H2F3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0005515 protein binding GO:0016491 oxidoreductase activity GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0047016 cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity
Biological Process: GO:0006694 steroid biosynthetic process GO:0006699 bile acid biosynthetic process GO:0035754 B cell chemotaxis GO:0055114 oxidation-reduction process
AK057436 - Homo sapiens cDNA FLJ32874 fis, clone TESTI2004000, highly similar to Rattus norvegicus cca2 mRNA. BC004929 - Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7, mRNA (cDNA clone MGC:10497 IMAGE:3626629), complete cds. JD209396 - Sequence 190420 from Patent EP1572962. AK290950 - Homo sapiens cDNA FLJ78573 complete cds. AK292068 - Homo sapiens cDNA FLJ78326 complete cds. AF277719 - Homo sapiens 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase mRNA, complete cds. KJ901075 - Synthetic construct Homo sapiens clone ccsbBroadEn_10469 HSD3B7 gene, encodes complete protein. EU176407 - Synthetic construct Homo sapiens clone IMAGE:100006554; FLH263536.01X; RZPDo839H0867D hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7) gene, encodes complete protein. EU176408 - Synthetic construct Homo sapiens clone IMAGE:100006555; FLH263537.01X; RZPDo839F12255D hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7) gene, encodes complete protein. JD057966 - Sequence 38990 from Patent EP1572962. JD226588 - Sequence 207612 from Patent EP1572962. JD296058 - Sequence 277082 from Patent EP1572962. JD454179 - Sequence 435203 from Patent EP1572962. JD267375 - Sequence 248399 from Patent EP1572962. JD084909 - Sequence 65933 from Patent EP1572962. JD248808 - Sequence 229832 from Patent EP1572962. JD110427 - Sequence 91451 from Patent EP1572962. JD508636 - Sequence 489660 from Patent EP1572962. JD337682 - Sequence 318706 from Patent EP1572962. JD337683 - Sequence 318707 from Patent EP1572962. JD463222 - Sequence 444246 from Patent EP1572962. JD463223 - Sequence 444247 from Patent EP1572962. JD413795 - Sequence 394819 from Patent EP1572962. JD367547 - Sequence 348571 from Patent EP1572962. JD367548 - Sequence 348572 from Patent EP1572962. JD363173 - Sequence 344197 from Patent EP1572962. JD151013 - Sequence 132037 from Patent EP1572962. JD131721 - Sequence 112745 from Patent EP1572962. JD070377 - Sequence 51401 from Patent EP1572962. JD398580 - Sequence 379604 from Patent EP1572962. JD150696 - Sequence 131720 from Patent EP1572962. JD150697 - Sequence 131721 from Patent EP1572962. JD071882 - Sequence 52906 from Patent EP1572962. JD330776 - Sequence 311800 from Patent EP1572962. JD441201 - Sequence 422225 from Patent EP1572962. JD255843 - Sequence 236867 from Patent EP1572962. JD217020 - Sequence 198044 from Patent EP1572962. JD504491 - Sequence 485515 from Patent EP1572962. JD362791 - Sequence 343815 from Patent EP1572962. JD483764 - Sequence 464788 from Patent EP1572962. JD369206 - Sequence 350230 from Patent EP1572962. JD547428 - Sequence 528452 from Patent EP1572962. JD497422 - Sequence 478446 from Patent EP1572962. JD123748 - Sequence 104772 from Patent EP1572962. JD421036 - Sequence 402060 from Patent EP1572962. JD468823 - Sequence 449847 from Patent EP1572962. JD462757 - Sequence 443781 from Patent EP1572962. JD429372 - Sequence 410396 from Patent EP1572962. JD197498 - Sequence 178522 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00120 - Primary bile acid biosynthesis hsa01100 - Metabolic pathways
BioCyc Knowledge Library PWY-6061 - bile acid biosynthesis, neutral pathway
Reactome (by CSHL, EBI, and GO)
Protein Q9H2F3 (Reactome details) participates in the following event(s):
R-HSA-192097 7alpha-hydroxycholesterol is oxidized and isomerized to 4-cholesten-7alpha-ol-3-one R-HSA-193789 Cholest-5-ene-3beta,7alpha,24(S)-triol is oxidized and isomerized to 4-cholesten-7alpha,24(S)-diol-3-one R-HSA-193816 Cholest-5-ene-3beta,7alpha,27-triol is oxidized and isomerized to 4-cholesten-7alpha,27-diol-3-one R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol R-HSA-192105 Synthesis of bile acids and bile salts R-HSA-194068 Bile acid and bile salt metabolism R-HSA-8957322 Metabolism of steroids R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism
Sequence and Links to Tools and Databases 
Microarray Expression Data 
