Protein-coding gene in humans
EBP |
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Identifiers |
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Aliases | EBP, CDPX2, CHO2, CPX, CPXD, MEND, emopamil binding protein (sterol isomerase), cholestenol delta-isomerase, EBP cholestenol delta-isomerase |
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External IDs | OMIM: 300205; MGI: 107822; HomoloGene: 4798; GeneCards: EBP; OMA:EBP - orthologs |
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EC number | 5.3.3.5 |
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Gene location (Human) |
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| Chr. | X chromosome (human)[1] |
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| Band | Xp11.23 | Start | 48,521,799 bp[1] |
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End | 48,528,716 bp[1] |
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Gene location (Mouse) |
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| Chr. | X chromosome (mouse)[2] |
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| Band | X A1.1|X 3.7 cM | Start | 8,051,568 bp[2] |
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End | 8,059,751 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| Top expressed in | - left lobe of liver
- esophagus
- decidua
- duodenum
- jejunum
- right kidney
- proximal tubule
- human kidney
- left colon
- pyloric antrum
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr X: 48.52 – 48.53 Mb | Chr X: 8.05 – 8.06 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Emopamil binding protein is a protein that in humans is encoded by the EBP gene, located on the X chromosome.[5] 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.[6]
Clinical significance
Mutations in EBP cause Conradi–Hünermann syndrome and impairs cholesterol biosynthesis.[7] 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.[8]
Research areas
Remyelination and MS
The inhibition of EBP promotes oligodendrocyte formation, which may help remyelination and thus limit multiple sclerosis development. [9]
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.[6]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000147155 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031168 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ a b 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.
- ^ 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.
- ^ 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.
- ^ Dorel, Ruth; Sun, Dawei; Carruthers, Nicholas; Castanedo, Georgette M.; Ung, Peter M.-U.; Factor, Daniel C.; Li, Tianbo; Baumann, Hannah; Janota, Danielle; Pang, Jodie; Salphati, Laurent; Meklemburg, Robert; Korman, Allison J.; Harper, Halie E.; Stubblefield, Samantha; Payandeh, Jian; McHugh, Daniel; Lang, Bradley T.; Tesar, Paul J.; Dere, Edward; Masureel, Matthieu; Adams, Drew J.; Volgraf, Matthew; Braun, Marie-Gabrielle (March 28, 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 – via PubMed.
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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