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
|
|
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 |
|
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
|
|
|
|
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 |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007905
Emopamil-binding protein
|
PFAM |
PF05241
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q15125
|
PhosphoSite |
PhosphoSite-Q15125
|
TrEMBL |
C9JJ78
|
UniProt Splice Variant |
|
Entrez Gene |
10682
|
UniGene |
|
RefSeq |
NP_006570
|
HUGO |
HGNC:3133
|
OMIM |
300205
|
CCDS |
CCDS14300
|
HPRD |
02192
|
IMGT |
|
EMBL |
AF196969
AF196972
BC001549
BC001572
BC046501
CH471224
CR456815
CR542094
Z37986
|
GenPept |
AAH01549
AAH01572
AAH46501
CAA86068
CAG33096
CAG46891
EAW50773
EAW50775
|
|
|