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

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: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (48521808..48528716)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (47930820..47937730)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48380196..48387104)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Delta8-7 Sterol Isomerase.
Title: Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Δ8-7 Sterol Isomerase.
The human sterol delta(8)-Delta(7) isomerase was expressed in P. pastoris to 200mgL-1. The membrane protein enzyme could be solubilized readily in dodecyl maltoside. The solubilized protein displayed a symmetric peak on size exclusion chromatography.
Title: High-level heterologous expression of the human transmembrane sterol Δ8,Δ7-isomerase in Pichia pastoris.
EBP adopts an unreported fold involving five transmembrane-helices (TMs) that creates a membrane cavity presenting a pharmacological binding site that accommodates multiple different ligands. Mutagenesis studies on specific residues abolish the isomerase activity and decrease the multidrug binding capacity.
Title: Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.
This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2.
Title: A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2.
Title: Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
With non-mosaic EBP mutations in males.
Title: An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
Report steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Delta8,7-sterol isomerase in cholesterol biosynthesis.
Title: Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Δ8,7-sterol isomerase in cholesterol biosynthesis.
Elastin binding protein and FKBP65 modulate the kinetics of self-assembly of tropoelastin in an in vitro system.
Title: Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.
Results show a clear relationship between abnormal sterol profile and the EBP gene mutation
Title: Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation.
Title: Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Chondrodysplasia punctata 2 X-linked dominant MedGen: C0282102 OMIM: 302960 GeneReviews: Chondrodysplasia Punctata 2, X-Linked	not available
MEND syndrome MedGen: C4085243 OMIM: 300960 GeneReviews: Not available	not available

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16246 (e-PCR)
- UniSTS:10543

RH36014 (e-PCR)
- UniSTS:78928

SGC38390 (e-PCR)
- UniSTS:74066

RH46098 (e-PCR)
- UniSTS:74067

RH93495 (e-PCR)
- UniSTS:87908

SHGC-34488 (e-PCR)
- UniSTS:48541

RH17606 (e-PCR)
- UniSTS:35772

DXS7465E (e-PCR)
- UniSTS:99518

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables C-8 sterol isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
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 cholesterol-5,6-oxide hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
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
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

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process via desmosterol	TAS Traceable Author Statement more info
involved_in cholesterol biosynthetic process via lathosterol	TAS Traceable Author Statement more info
involved_in cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in ossification involved in bone maturation	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
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
located_in nuclear membrane	IDA Inferred from Direct Assay more info

General protein information

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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

EC 5.3.3.5

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.