Gene Symbol | EBP |
Entrez ID | 10682 |
Uniprot ID | Q15125 |
Description | emopamil binding protein (sterol isomerase) |
Chromosomal Location | chrX: 48,521,158-48,528,716 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001501 |
skeletal system development |
The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). |
TAS |
BP |
GO:0006695 |
cholesterol biosynthetic process |
The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
IDA |
BP |
GO:0006855 |
drug transmembrane transport |
The process in which a drug is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
IEA |
BP |
GO:0007165 |
signal transduction |
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
IEA |
BP |
GO:0008203 |
cholesterol metabolic process |
The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
TAS |
BP |
GO:0030097 |
hemopoiesis |
The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
IEA |
BP |
GO:0033489 |
cholesterol biosynthetic process via desmosterol |
The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate desmosterol. |
TAS |
BP |
GO:0033490 |
cholesterol biosynthetic process via lathosterol |
The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. |
TAS |
CC |
GO:0005635 |
nuclear envelope |
The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
IDA |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
TAS |
CC |
GO:0005887 |
integral component of plasma membrane |
The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
TAS |
CC |
GO:0016023 |
cytoplasmic, membrane-bounded vesicle |
A membrane-bounded vesicle found in the cytoplasm of the cell. |
IEA |
MF |
GO:0000247 |
C-8 sterol isomerase activity |
Catalysis of the reaction which results in unsaturation at C-7 in the B ring of sterols. |
IEA |
MF |
GO:0004769 |
steroid delta-isomerase activity |
Catalysis of the reaction: a 3-oxo-delta(5)-steroid = a 3-oxo-delta(4)-steroid. |
EXP|IDA |
MF |
GO:0004888 |
transmembrane signaling receptor activity |
Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
TAS |
MF |
GO:0015238 |
drug transmembrane transporter activity |
Enables the directed movement of a drug from one side of a membrane to the other. A drug is any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease. |
TAS |
MF |
GO:0047750 |
cholestenol delta-isomerase activity |
Catalysis of the reaction: 5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol. |
IEA |
Domain ID | Description |
---|---|
IPR007905 |
Emopamil-binding protein |
IPR033118 |
EXPERA domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00100 |
Steroid biosynthesis |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0282102 |
Chondrodysplasia Punctata, X-Linked Dominant Type |
Tissue | Cell Type |
---|---|
testis |
Leydig cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
APP |
351 |
P05067 |
0.56 |
TCTN3 |
26123 |
Q6NUS6 |
0.49 |
TCTN2 |
79867 |
Q96GX1 |
0.49 |
EDNRA |
1909 |
P25101 |
0.63 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
ENO1 |
2023 |
P06733 |
0.63 |
ESRRG |
2104 |
P62508 |
0.63 |
MITF |
4286 |
O75030 |
0.63 |
MOV10 |
4343 |
Q9HCE1 |
0.63 |
MTNR1B |
4544 |
P49286 |
0.63 |
ABCE1 |
6059 |
P61221 |
0.63 |
SHMT2 |
6472 |
P34897 |
0.63 |
GPR52 |
9293 |
Q9Y2T5 |
0.63 |
NXF1 |
10482 |
Q9UBU9 |
0.63 |
P2RY12 |
64805 |
Q9H244 |
0.63 |
HSP90B1 |
7184 |
P14625 |
0.72 |
SAP30 |
8819 |
O75446 |
0.72 |
NCSTN |
23385 |
Q92542 |
0.72 |
VKORC1 |
79001 |
Q9BQB6 |
0.72 |
EBPL |
84650 |
Q9BY08 |
0.74 |