Protein Description

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

No databases found.

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