ID:EBP_HUMAN DESCRIPTION: RecName: Full=3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; EC=5.3.3.5; AltName: Full=Cholestenol Delta-isomerase; AltName: Full=Delta(8)-Delta(7) sterol isomerase; Short=D8-D7 sterol isomerase; AltName: Full=Emopamil-binding protein; FUNCTION: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. CATALYTIC ACTIVITY: 5-alpha-cholest-7-en-3-beta-ol = 5-alpha- cholest-8-en-3-beta-ol. PATHWAY: Steroid biosynthesis; cholesterol biosynthesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. DISEASE: Defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]; also known as Conradi-Hunermann-Happle syndrome. CDP is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. MISCELLANEOUS: Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug. SIMILARITY: Belongs to the EBP family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EBP";
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.
ModBase Predicted Comparative 3D Structure on Q15125
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
Biological Process: GO:0001501 skeletal system development GO:0006629 lipid metabolic process GO:0006694 steroid biosynthetic process GO:0006695 cholesterol biosynthetic process GO:0006855 drug transmembrane transport GO:0007165 signal transduction GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0016125 sterol metabolic process GO:0016126 sterol biosynthetic process GO:0030097 hemopoiesis GO:0033489 cholesterol biosynthetic process via desmosterol GO:0033490 cholesterol biosynthetic process via lathosterol
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
