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

Gene ID: 10682, updated on 22-Sep-2022

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; AllianceGenome:HGNC:3133
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
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Genomic context

See EBP in Genome Data Viewer
Location:
Xp11.23
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48521808..48528716)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47930820..47937730)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48380196..48387104)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PORCN divergent transcript 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
enables C-8 sterol isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables C-8 sterol isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables cholestenol delta-isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables steroid delta-isomerase activity EXP
Inferred from Experiment
more info
PubMed 
enables steroid delta-isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables steroid delta-isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables steroid delta-isomerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane ISM
Inferred from Sequence Model
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in 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)

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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, Q6IBI9
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    47930820..47937730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)