EBP emopamil binding protein (sterol isomerase) [Homo sapiens (human)]
| Gene Symbol | EBP |
| Entrez Gene ID | 10682 |
| Full Name | emopamil binding protein (sterol isomerase) |
| Synonyms | CDPX2, CHO2, CPX, CPXD |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
X Xp11.23-p11.22 |
| Summary | 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]. |
| Disorder | MIM: 300205 Chondrodysplasia punctata, X-linked dominant, 302960 (3) |
| mRNA | NM_006579, 169808388 |
| Protein | NP_006570, 5729810 |
| Product | 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase |
| RefSeq Status | REVIEWED |
| hsa00100 | Steroid biosynthesis |
| hsa01100 | Metabolic pathways |
BIOCYC
| META_PWY66-4 | cholesterol biosynthesis III (via desmosterol) |
| META_PWY66-3 | cholesterol biosynthesis II (via 24,25-dihydrolanosterol) |
| META_PWY66-341 | cholesterol biosynthesis I |
| META_PWY66-5 | superpathway of cholesterol biosynthesis |
Reactome
| REACT_22258 | Metabolism of lipids and lipoproteins |
| REACT_9405 | Cholesterol biosynthesis |
| Homo sapiens (human) | EBP | NP_006570.1 |
| Canis lupus familiaris (dog) | LOC609430 | XP_851024.1 |
| Canis lupus familiaris (dog) | LOC611024 | XP_853729.1 |
| Bos taurus (cattle) | EBP | NP_001029672.1 |
| Mus musculus (house mouse) | Ebp | NP_031924.1 |
| Rattus norvegicus (Norway rat) | Ebp | NP_476478.1 |
| Danio rerio (zebrafish) | ebp | NP_001002328.1 |
| Arabidopsis thaliana (thale cress) | HYD1 | NP_173433.1 |
| ID | Name | Evidence |
| GO:0001501 | skeletal system development | TAS |
| GO:0006695 | cholesterol biosynthetic process | TAS |
| GO:0006855 | drug transmembrane transport | TAS |
| GO:0008203 | cholesterol metabolic process | TAS |
| GO:0030097 | hemopoiesis | IEA |
Component
| ID | Name | Evidence |
| GO:0005783 | endoplasmic reticulum | IDA |
| GO:0005789 | endoplasmic reticulum membrane | TAS |
| GO:0005792 | microsome | IEA |
| GO:0005887 | integral to plasma membrane | TAS |
| GO:0016020 | membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0000247 | C-8 sterol isomerase activity | IEA |
| GO:0004769 | steroid delta-isomerase activity | TAS |
| GO:0004888 | transmembrane receptor activity | TAS |
| GO:0015238 | drug transmembrane transporter activity | TAS |
| GO:0016853 | isomerase activity | IEA |
| GO:0047750 | cholestenol delta-isomerase activity | IEA |
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