EBP (基因)

EBP
識別號
别名	EBP；, CDPX2, CHO2, CPX, CPXD, MEND, emopamil binding protein (sterol isomerase), cholestenol delta-isomerase, EBP cholestenol delta-isomerase
外部ID	OMIM：300205 MGI：107822 HomoloGene：4798 GeneCards：EBP
EC number	5.3.3.5
相關疾病
	MEND syndrome、X-linked chondrodysplasia punctata
基因位置（人类）
染色体	X染色體
终止	48,528,716 bp
基因位置（小鼠）
染色体	小鼠X染色体
终止	8,059,751 bp
基因本體
分子功能	• C-8 sterol isomerase activity; • isomerase activity; • xenobiotic transmembrane transporter activity; • transmembrane signaling receptor activity; • cholestenol delta-isomerase activity; • steroid delta-isomerase activity; • 血浆蛋白结合;
細胞組分	• integral component of membrane; • endoplasmic reticulum membrane; • 膜; • 細胞內膜結合細胞器; • integral component of plasma membrane; • 内质网; • cytoplasmic vesicle; • nuclear envelope; • 细胞核;
生物學過程	• 骨骼系统的发生; • steroid metabolic process; • sterol biosynthetic process; • 脂質代謝; • 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; • 訊息傳遞; • 造血作用; • xenobiotic transport;
	Sources:Amigo / QuickGO
直系同源
	10682
	13595
	ENSG00000147155
	ENSMUSG00000031168
	Q15125
	P70245
	NM_006579
	NM_007898
	NP_006570
	NP_031924
	維基數據
檢視/編輯人類	檢視/編輯小鼠

EBP（Emopamil binding protein，“依莫帕米结合蛋白”）是人类基因 EBP 编码的蛋白质，基因位于X染色体^[6]，蛋白分子量27.3 kDa，能与依莫帕米等抗缺血药物结合^[7]。

参考文献

^ 與EBP相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000147155 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 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. Functional analysis of cholesterol biosynthesis by RNA interference. The Journal of Steroid Biochemistry and Molecular Biology. May 2007, 104 (3–5): 105–109. PMID 17498944. S2CID 20838858. doi:10.1016/j.jsbmb.2007.03.001.
^ Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J, Glossmann H. Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. The Journal of Biological Chemistry. March 1995, 270 (13): 7551–7557. PMID 7706302. doi:10.1074/jbc.270.13.7551 .

外部链接

[1] 與EBP相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000147155 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000031168 - Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid17498944-6] Guggenberger C, Ilgen D, Adamski J. Functional analysis of cholesterol biosynthesis by RNA interference. The Journal of Steroid Biochemistry and Molecular Biology. May 2007, 104 (3–5): 105–109. PMID 17498944. S2CID 20838858. doi:10.1016/j.jsbmb.2007.03.001.

[Hanner_1995-7] Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J, Glossmann H. Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. The Journal of Biological Chemistry. March 1995, 270 (13): 7551–7557. PMID 7706302. doi:10.1074/jbc.270.13.7551 .

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