Summary: 3-oxo-5-alpha-steroid 4-dehydrogenase
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This family consists of 3-oxo-5-alpha-steroid 4-dehydrogenases, EC:184.108.40.206 Also known as Steroid 5-alpha-reductase, the reaction catalysed by this enzyme is: 3-oxo-5-alpha-steroid + acceptor <=> 3-oxo-delta(4)-steroid + reduced acceptor. The Steroid 5-alpha-reductase enzyme is responsible for the formation of dihydrotestosterone, this hormone promotes the differentiation of male external genitalia and the prostate during fetal development . In humans mutations in this enzyme can cause a form of male pseudohermaphorditism in which the external genitalia and prostate fail to develop normally . A related enzyme is also found in plants is Q38944 (DET2) a steroid reductase from Arabidopsis. Mutations in this enzyme cause defects in light-regulated development .
Jenkins EP, Hsieh CL, Milatovich A, Normington K, Berman DM, Francke U, Russell DW; , Genomics 1991;11:1102-1112.: Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue. PUBMED:1686016 EPMC:1686016
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This tab holds annotation information from the InterPro database.
InterPro entry IPR001104
Synonym(s): Steroid 5-alpha-reductase
3-oxo-5-alpha-steroid 4-dehydrogenases, EC catalyse the conversion of 3-oxo-5-alpha-steroid + acceptor to 3-oxo-delta(4)-steroid + reduced acceptor. The steroid 5-alpha-reductase enzyme is responsible for the formation of dihydrotestosterone, this hormone promotes the differentiation of male external genitalia and the prostate during foetal development [PUBMED:1686016]. In humans mutations in this enzyme can cause a form of male pseudohermaphorditism in which the external genitalia and prostate fail to develop normally. A related steroid reductase enzyme, DET2, is found in plants such as Arabidopsis. Mutations in this enzyme cause defects in light-regulated development [PUBMED:8602526]. This domain is present in both type 1 and type 2 forms.
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|Cellular component||integral to membrane (GO:0016021)|
|Molecular function||oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)|
|Biological process||lipid metabolic process (GO:0006629)|
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|Seed source:||Pfam-B_1713 (release 5.4)|
|Author:||Bashton M, Bateman A|
|Number in seed:||10|
|Number in full:||1178|
|Average length of the domain:||142.80 aa|
|Average identity of full alignment:||25 %|
|Average coverage of the sequence by the domain:||50.78 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||11|
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