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EBP emopamil binding protein (sterol isomerase) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006579 Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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Gene Symbol EBP
Entrez Gene ID 10682
Full Name emopamil binding protein (sterol isomerase)
Synonyms CDPX2, CHO2, CPX, CPXD
General protein information
Preferred Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
sterol 8-isomerase
D8-D7 sterol isomerase
cholestenol Delta-isomerase
delta(8)-Delta(7) sterol isomerase
emopamil-binding protein (sterol isomerase)
3-beta-hydroxysteroid-delta-8,delta-7-isomerase
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
NP_006570.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.23-p11.22

Summary The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008].
Disorder

MIM: 300205

Chondrodysplasia punctata, X-linked dominant, 302960 (3)

mRNA Protein Product Sequence Price Select
NM_006579, 169808388 NP_006570, 5729810 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase ORF Sequence $159.00
KEGG
hsa00100Steroid biosynthesis
hsa_M00101Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol
BIOCYC
META_PWY66-341cholesterol biosynthesis I
META_PWY66-5superpathway of cholesterol biosynthesis
META_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
META_PWY66-4cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY66-5superpathway of cholesterol biosynthesis
HUMAN_PWY66-341cholesterol biosynthesis I
HUMAN_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
HUMAN_PWY66-4cholesterol biosynthesis III (via desmosterol)
Reactome
REACT_9405Cholesterol biosynthesis
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)EBPNP_006570.1
Canis lupus familiaris (dog)EBPXP_851024.1
Bos taurus (cattle)EBPNP_001029672.1
Mus musculus (house mouse)EbpNP_031924.1
Rattus norvegicus (Norway rat)EbpNP_476478.1
Danio rerio (zebrafish)ebpNP_001002328.1
Arabidopsis thaliana (thale cress)HYD1NP_173433.1
Process
IDNameEvidence
GO:0001501skeletal system developmentTAS
GO:0006695cholesterol biosynthetic processIEA
GO:0006695cholesterol biosynthetic processTAS
GO:0006855drug transmembrane transportTAS
GO:0007165signal transductionTAS
GO:0008203cholesterol metabolic processTAS
GO:0030097hemopoiesisIEA
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005783endoplasmic reticulumIDA
GO:0005789endoplasmic reticulum membraneTAS
GO:0005887integral component of plasma membraneTAS
Function
IDNameEvidence
GO:0000247C-8 sterol isomerase activityIEA
GO:0004769steroid delta-isomerase activityTAS
GO:0004888transmembrane signaling receptor activityTAS
GO:0015238drug transmembrane transporter activityTAS
GO:0047750cholestenol delta-isomerase activityIEA
GeneCards EBP
UniProt Q15125
Vega OTTHUMG00000034482
MIM 300205
Ensembl ENSG00000147155
HGNC 3133
HPRD 02192

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the EBP gene?

The EBP gene provides instructions for making an enzyme called 3β-hydroxysteroid-Δ8,Δ7-isomerase. This enzyme is responsible for one of the final steps in the production of cholesterol. Specifically, it converts a molecule called 8(9)-cholestenol to lathosterol. Other enzymes then modify lathosterol to produce cholesterol.

Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and plays a role in the production of certain hormones and acids used in digestion (bile acids).

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