InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EBP

Summary

InnateDB Protein

IDBP-475021.2

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EBP

Protein Name

emopamil binding protein (sterol isomerase)

Synonyms

CDPX2; CHO2; CPX; CPXD;

Species

Homo sapiens

Ensembl Protein

ENSP00000417052

InnateDB Gene

IDBG-63380 (EBP)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]: 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. {ECO:0000269PubMed:10391218, ECO:0000269PubMed:10391219, ECO:0000269PubMed:10942423, ECO:0000269PubMed:11493318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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