Format

Send to:

Choose Destination

EBP EBP cholestenol delta-isomerase [ Homo sapiens (human) ]

Gene ID: 10682, updated on 1-Feb-2020

Summary

Official Symbol
EBPprovided by HGNC
Official Full Name
EBP cholestenol delta-isomeraseprovided by HGNC
Primary source
HGNC:HGNC:3133
See related
Ensembl:ENSG00000147155 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; MEND; 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]
Expression
Ubiquitous expression in liver (RPKM 87.3), duodenum (RPKM 37.6) and 24 other tissues See more
Orthologs

Genomic context

See EBP in Genome Data Viewer
Location:
Xp11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48521808..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 O-acyltransferase Neighboring gene CRISPRi-validated cis-regulatory element chrX.929 Neighboring gene TBC1 domain family member 25

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Chondrodysplasia punctata 2 X-linked dominant Compare labs
MEND syndrome
MedGen: C4085243 OMIM: 300960 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2020-01-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2020-01-22)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C-8 sterol isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholestenol delta-isomerase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
steroid delta-isomerase activity EXP
Inferred from Experiment
more info
PubMed 
steroid delta-isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid delta-isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
xenobiotic transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol biosynthetic process via desmosterol TAS
Traceable Author Statement
more info
 
cholesterol biosynthetic process via lathosterol TAS
Traceable Author Statement
more info
 
cholesterol metabolic process TAS
Traceable Author Statement
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xenobiotic transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Names
3-beta-hydroxysteroid-delta-8,delta-7-isomerase
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
D8-D7 sterol isomerase
cholestenol Delta-isomerase
delta(8)-Delta(7) sterol isomerase
emopamil binding protein (sterol isomerase)
emopamil-binding protein
sterol 8-isomerase
NP_006570.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5033..11941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_006570.1

    Status: REVIEWED

    Source sequence(s)
    BC001549, BC001572, CA488777
    Consensus CDS
    CCDS14300.1
    UniProtKB/Swiss-Prot
    Q15125
    UniProtKB/TrEMBL
    A0A024QYX0
    Related
    ENSP00000417052.1, ENST00000495186.6
    Conserved Domains (1) summary
    pfam05241
    Location:36214
    EBP; Emopamil binding protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    48521808..48528716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center