Gene/Proteome Database (LMPD)

LMPD ID
LMP000533
Gene ID
10682
Species
Homo sapiens (Human)
Gene Name
emopamil binding protein (sterol isomerase)
Gene Symbol
EBP
Synonyms
CDPX2; CHO2; CPX; CPXD
Alternate 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)
Chromosome
X
Map Location
Xp11.23-p11.22
EC Number
5.3.3.5
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]
Orthologs
View orthologs and multiple alignments for EBP

Proteins

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Refseq ID NP_006570
Protein GI 5729810
UniProt ID Q15125
mRNA ID NM_006579
Length 230
RefSeq Status REVIEWED
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN

Gene Information

Entrez Gene ID
10682
Gene Name
emopamil binding protein (sterol isomerase)
Gene Symbol
EBP
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IDA:HPA C endoplasmic reticulum
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0005887 TAS:ProtInc C integral component of plasma membrane
GO:0000247 IEA:Ensembl F C-8 sterol isomerase activity
GO:0047750 IEA:UniProtKB-EC F cholestenol delta-isomerase activity
GO:0015238 TAS:ProtInc F drug transmembrane transporter activity
GO:0004769 TAS:ProtInc F steroid delta-isomerase activity
GO:0004888 TAS:ProtInc F transmembrane signaling receptor activity
GO:0006695 TAS:Reactome P cholesterol biosynthetic process
GO:0008203 TAS:ProtInc P cholesterol metabolic process
GO:0006855 TAS:GOC P drug transmembrane transport
GO:0030097 IEA:Ensembl P hemopoiesis
GO:0007165 TAS:GOC P signal transduction
GO:0001501 TAS:ProtInc P skeletal system development
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00100 Steroid biosynthesis

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY66-5 superpathway of cholesterol biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_9405 Cholesterol biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR007905 Emopamil-binding protein

UniProt Annotations

Entry Information

Gene Name
emopamil binding protein (sterol isomerase)
Protein Entry
EBP_HUMAN
UniProt ID
Q15125
Species
Human

Comments

Comment Type Description
Catalytic Activity 5-alpha-cholest-7-en-3-beta-ol = 5-alpha- cholest-8-en-3-beta-ol.
Disease Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM
Function Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
Miscellaneous Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug.
Pathway Steroid biosynthesis; cholesterol biosynthesis.
Similarity Belongs to the EBP family.
Subcellular Location Endoplasmic reticulum membrane; Multi-pass membrane protein.

Identical and Related Proteins

Unique RefSeq proteins for LMP000533 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
5729810 RefSeq NP_006570 230 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Identical Sequences to LMP000533 proteins

Reference Database Accession Length Protein Name
GI:5729810 GenBank ABM85711.1 230 emopamil binding protein (sterol isomerase), partial [synthetic construct]
GI:5729810 GenBank ABM85712.1 230 emopamil binding protein (sterol isomerase), partial [synthetic construct]
GI:5729810 GenBank ADA21803.1 230 Sequence 4 from patent US 7608421
GI:5729810 GenBank AHD69454.1 230 Sequence 468 from patent US 8586006
GI:5729810 GenBank AIC50697.1 230 EBP, partial [synthetic construct]
GI:5729810 GenBank AIL31429.1 230 emopamil binding protein, partial [Homo sapiens]

Related Sequences to LMP000533 proteins

Reference Database Accession Length Protein Name
GI:5729810 EMBL CAH91097.1 230 hypothetical protein [Pongo abelii]
GI:5729810 GenBank AAX37072.1 231 emopamil binding protein, partial [synthetic construct]
GI:5729810 GenBank ACM81638.1 267 Sequence 7136 from patent US 6812339
GI:5729810 RefSeq NP_001125640.1 230 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase [Pongo abelii]
GI:5729810 RefSeq XP_003276869.1 230 PREDICTED: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase isoform 2 [Nomascus leucogenys]
GI:5729810 RefSeq XP_004092467.1 230 PREDICTED: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase [Nomascus leucogenys]