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EBP
Identifiers
Aliases	EBP, CDPX2, CHO2, CPX, CPXD, MEND, emopamil binding protein (sterol isomerase), cholestenol delta-isomerase, EBP cholestenol delta-isomerase
External IDs	OMIM: 300205; MGI: 107822; HomoloGene: 4798; GeneCards: EBP; OMA:EBP - orthologs
EC number	5.3.3.5
Gene location (Human) Chr. X chromosome (human) Band Xp11.23 Start 48,521,799 bp End 48,528,716 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X A1.1|X 3.7 cM Start 8,051,568 bp End 8,059,751 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver right adrenal gland right adrenal cortex left adrenal gland mucosa of transverse colon left adrenal cortex tendon of biceps brachii oocyte gingival epithelium buccal mucosa cell Top expressed in left lobe of liver esophagus decidua duodenum jejunum right kidney proximal tubule human kidney left colon pyloric antrum More reference expression data BioGPS n/a
Gene ontology Molecular function C-8 sterol isomerase activity isomerase activity xenobiotic transmembrane transporter activity transmembrane signaling receptor activity cholestenol delta-isomerase activity steroid delta-isomerase activity protein binding Cellular component integral component of membrane endoplasmic reticulum membrane membrane intracellular membrane-bounded organelle integral component of plasma membrane endoplasmic reticulum cytoplasmic vesicle nuclear envelope nucleus Biological process skeletal system development steroid metabolic process sterol biosynthetic process lipid metabolism cholesterol metabolic process cholesterol biosynthetic process via lathosterol sterol metabolic process cholesterol biosynthetic process via desmosterol steroid biosynthetic process cholesterol biosynthetic process xenobiotic transmembrane transport signal transduction hemopoiesis xenobiotic transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10682 13595 Ensembl ENSG00000147155 ENSMUSG00000031168 UniProt Q15125 P70245 RefSeq (mRNA) NM_006579 NM_007898 RefSeq (protein) NP_006570 NP_031924 Location (UCSC) Chr X: 48.52 – 48.53 Mb Chr X: 8.05 – 8.06 Mb PubMed search
Wikidata
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Emopamil binding protein is a protein that in humans is encoded by the EBP gene, located on the X chromosome. The protein is shown to have a high-affinity reception for anti-ischemic drugs, such as Emopamil, resulting in its discovery and given name. EBP has a mass of 27.3 kDa and resembles the σ₂-receptor that resides in the endoplasmic reticulum of various tissues as an integral membrane protein.

Clinical significance

Mutations in EBP cause Conradi–Hünermann syndrome and impairs cholesterol biosynthesis. Unborn males affected with EBP mutations are not expected to be liveborn, (with up to only 5% male births). Individuals, mostly female, that are liveborn with EBP mutations experience stunted growth, limb reduction and back problems. Later in life, the individual may develop cataracts along with coarse hair and hair loss.

Research areas

Remyelination and MS

The inhibition of EBP promotes oligodendrocyte formation, which may help remyelination and thus limit multiple sclerosis development.

Cloning

Isolation, replication and characterization of the EBP and EBP-like protein have been performed in yeast/E. Coli strains (which lack the EBP protein in nature) to study the high-affinity drug binding effects.

See also

• Emopamil
• Cholestenol Delta-isomerase
• Sigma-1 receptor
• Sigma-2 receptor

References

1. ^ GRCh38: Ensembl release 89: ENSG00000147155 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031168 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Guggenberger C, Ilgen D, Adamski J (May 2007). "Functional analysis of cholesterol biosynthesis by RNA interference". The Journal of Steroid Biochemistry and Molecular Biology. 104 (3–5): 105–109. doi:10.1016/j.jsbmb.2007.03.001. PMID 17498944. S2CID 20838858.
6. ^ Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J, Glossmann H (March 1995). "Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression". The Journal of Biological Chemistry. 270 (13): 7551–7557. doi:10.1074/jbc.270.13.7551. PMID 7706302.
7. Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA (July 2014). "A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2". American Journal of Medical Genetics. Part A. 164A (7): 1642–1647. doi:10.1002/ajmg.a.36508. PMID 24700572. S2CID 6501291.
8. Krakow D (2018). "Chondrodysplasia Punctata". In Copel JA, D'Alton ME, Reapply WC, Feltovich H, Gratacós E, Krakow D, Odibo AO, Platt LD, Tutschek B (eds.). Obstetric Imaging: Fetal Diagnosis and Care (2nd ed.). Elsevier. pp. 259–261. doi:10.1016/b978-0-323-44548-1.00048-6. ISBN 978-0-323-44548-1.
9. Dorel R, Sun D, Carruthers N, Castanedo GM, Ung PM, Factor DC, et al. (March 2024). "Discovery and Optimization of Selective Brain-Penetrant EBP Inhibitors that Enhance Oligodendrocyte Formation". Journal of Medicinal Chemistry. 67 (6): 4819–4832. doi:10.1021/acs.jmedchem.3c02396. PMID 38470227.

External links

• GeneReviews/NCBI/NIH/UW entry on Chondrodysplasia Punctata 2, X-Linked, Conradi-Hünermann Syndrome, Happle Syndrome
• EBP+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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