EBP - emopamil binding protein (sterol isomerase)
Entrez Gene Name: emopamil binding protein (sterol isomerase)
Entrez GeneID: Human(10682)
, Mouse(13595), Rat(117278)
, Mouse(13595), Rat(117278) Synonyms: AI255399, CDPX2, CHO2, CPX, CPXD, D8D7I, EBP, mSI, Pabp, SI, Td
Gene Summary
- Human (10682): The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq]
- Rat (117278): catalyses the conversion of 5-alpha-cholest-8-en-3-beta-ol to 5-alpha-cholest-7-en-3-beta-ol in cholesterol biosynthesis [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Disease:
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Biological Process
cholesterol biosynthetic process, hemopoiesis, lipid biosynthetic process, skeletal system development, steroid biosynthetic process, sterol biosynthetic process, sterol metabolic process
Cellular Components
endoplasmic reticulum, endoplasmic reticulum membrane, integral to membrane, integral to plasma membrane, membrane, microsome
Literature References
- 12198164Vietor I, Vadivelu SK, Wick N, Hoffman R, Cotten M, Seiser C, Fialka I, Wunderlich W, Haase A, Korinkova G, Brosch G, Huber LA. TIS7 interacts with the mammalian SIN3 histone deacetylase complex in epithelial cells.EMBO J 2002 Sep 2;21(17):4621-31
- 16007141Rosty C, Sheffer M, Tsafrir D, Stransky N, Tsafrir I, Peter M, de Crémoux P, de La Rochefordière A, Salmon R, Dorval T, Thiery JP, Couturier J, Radvanyi F, Domany E, Sastre-Garau X. Identification of a proliferation gene cluster associated with HPV E6/E7 expression level and viral DNA load in invasive cervical carcinoma.Oncogene 2005 Oct 27;24(47):7094-104
- 10391218Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.Nat Genet 1999 Jul 1;22(3):286-90 View 59 categorized literature findings and their references in IPA
Molecular Functions
C-8 sterol isomerase activity, cholestenol delta-isomerase activity, drug transporter activity, isomerase activity, steroid delta-isomerase activity, transmembrane receptor activity
Protein Domains
C-8 sterol isomerase, Cholestenol D-isomerase, drug transporter, enzyme, Steroid D-isomerase, transmembrane receptor
