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

Gene ID: 10682, updated on 9-Nov-2014
Official Symbol
EBPprovided by HGNC
Official Full Name
emopamil binding protein (sterol isomerase)provided by HGNC
Primary source
HGNC:HGNC:3133
See related
HPRD:02192; MIM:300205
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPX; CHO2; CPXD; CDPX2
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]
Location:
Xp11.23-p11.22
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (48521776..48528716)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48379306..48387104)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927635 Neighboring gene porcupine homolog (Drosophila) Neighboring gene TBC1 domain family, member 25 Neighboring gene RNA binding motif (RNP1, RRM) protein 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-03-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-03-28)

ClinGen Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C-8 sterol isomerase activity IEA
Inferred from Electronic Annotation
more info
 
cholestenol delta-isomerase activity IEA
Inferred from Electronic Annotation
more info
 
drug transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
steroid delta-isomerase activity TAS
Traceable Author Statement
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol metabolic process TAS
Traceable Author Statement
more info
PubMed 
drug transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007452.1 

    Range
    5001..11941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006579.2NP_006570.1  3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

    See proteins identical to NP_006570.1

    Status: REVIEWED

    Source sequence(s)
    AU128761, BC001549, BC001572, CA488777
    Consensus CDS
    CCDS14300.1
    UniProtKB/TrEMBL
    A0A024QYX0
    UniProtKB/Swiss-Prot
    Q15125
    Conserved Domains (1) summary
    pfam05241
    Location:31219
    EBP; Emopamil binding protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    46043290..46050391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    48521776..48528716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    48411425..48418366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)