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Protein Page:
EBP (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

EBP Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. Defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2 (CDPX2); also known as Conradi-Hunermann-Happle syndrome. CDP is 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. Belongs to the EBP family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Endoplasmic reticulum; EC; Membrane protein, multi-pass; Lipid Metabolism - steroid biosynthesis; Isomerase
Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; integral to plasma membrane
Molecular Function: transmembrane receptor activity; steroid delta-isomerase activity; cholestenol delta-isomerase activity; drug transporter activity; C-8 sterol isomerase activity
Biological Process: cholesterol metabolic process; hemopoiesis; multidrug transport; signal transduction; skeletal development; cholesterol biosynthetic process
Reference #:  Q15125 (UniProtKB)
Alt. Names/Synonyms: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; CDPX2; CHO2; Cholestenol Delta-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); CPX; CPXD; D8-D7 sterol isomerase; Delta(8)-Delta(7) sterol isomerase; EBP; emopamil binding protein (sterol isomerase); Emopamil-binding protein; emopamil-binding protein (sterol isomerase); sterol 8-isomerase
Gene Symbols: EBP
Molecular weight: 26,353 Da
Basal Isoelectric point: 7.76  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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Modification Sites and Domains Show Modification Legend
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Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend

Show Multiple Sequence Alignment


SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


0 2 T2-gl ______MttNAGPLH
0 1 T2-ga ______MttNAGPLH
0 1 T3-gl _____MttNAGPLHP
0 1 T3-ga _____MttNAGPLHP

T2-gl ______MtTNTVPLH
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