Version 5.4
Homo sapiens Gene: EBP
Summary
InnateDB Gene IDBG-63380.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EBP
Gene Name emopamil binding protein (sterol isomerase)
Synonyms CDPX2; CHO2; CPX; CPXD
Species Homo sapiens
Ensembl Gene ENSG00000147155
Encoded Proteins
IDBP-370312
emopamil binding protein (sterol isomerase)
IDBP-370317
emopamil binding protein (sterol isomerase)
IDBP-475021
emopamil binding protein (sterol isomerase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Jul 2008]
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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:48521158-48528716
Strand Forward strand
Band p11.23
Transcripts
ENST00000276096
ENST00000446158 ENSP00000390031
ENST00000414061 ENSP00000405832
ENST00000495186 ENSP00000417052
ENST00000498425
ENST00000466461
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 7 [view]
Protein-DNA 3 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000247 C-8 sterol isomerase activity
GO:0004769 steroid delta-isomerase activity
GO:0004888 transmembrane signaling receptor activity
GO:0015238 drug transmembrane transporter activity
GO:0047750 cholestenol delta-isomerase activity
Biological Process
GO:0001501 skeletal system development
GO:0006695 cholesterol biosynthetic process
GO:0006855 drug transmembrane transport
GO:0007165 signal transduction
GO:0008203 cholesterol metabolic process
GO:0016125 sterol metabolic process
GO:0016126 sterol biosynthetic process
GO:0030097 hemopoiesis
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031168
View Gene Order
ENSBTAG00000009287
Not yet available
Pathways
NETPATH
REACTOME
REACT_9405
Cholesterol biosynthesis pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_111217
Metabolism pathway
KEGG
hsa00100
Steroid biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_006579
HUGO
OMIM
CCDS CCDS14300
HPRD 02192
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca