Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
EBP (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
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, multi-pass; Membrane protein, integral; Isomerase; Endoplasmic reticulum; EC 5.3.3.5; Lipid Metabolism - steroid biosynthesis
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; multidrug transport; hemopoiesis; 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

EBP

Protein Structure Not Found.


STRING  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  DISEASE  |  Scansite  |  Pfam  |  ENZYME  |  Phospho.ELM  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene


Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

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

Show Multiple Sequence Alignment


 SS 

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 

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


       human

 
0 2 T2-gl ______MttNAGPLH
0 1 T2-ga ______MttNAGPLH
0 1 T3-gl _____MttNAGPLHP
0 1 T3-ga _____MttNAGPLHP
0 1 S155 FILQLVVSVGQIYGD
0 1 Y160 VVSVGQIYGDVLYFL
0 1 K221-ac AQSTLDAkAtKAKSK
0 2 K221-ub AQSTLDAkAtKAKSK
0 1 T223-p STLDAkAtKAKSKKN
  mouse

 
T2-gl ______MtTNTVPLH
T2 ______MTTNTVPLH
T3 _____MtTNTVPLHP
T3 _____MtTNTVPLHP
S155-p FVLQLVVsMGQIyGD
Y160-p VVsMGQIyGDVLYFL
K221 AQSVLDSKVMKIKSK
K221-ub AQSVLDSkVMKIKSK
M223 SVLDSkVMKIKSKHN
Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.