黑素皮質素受體4

黑素皮質素受體4
已知的結構
PDB	直系同源搜尋: PDBe RCSB
PDBID列表
	2IQP、2IQR、2IQS、2IQU、2IQV、2IQW
識別號
別名	MC4R；, Melanocortin 4 receptor, BMIQ20
外部ID	OMIM：155541 MGI：99457 HomoloGene：4320 GeneCards：MC4R
相關疾病
	兒童肥胖、體重
為以下藥物的標靶
	美拉諾坦 I、美拉諾坦 II、THIQ、setmelanotide
基因位置（人類）
染色體	18號染色體
終止	60,372,775 bp
基因位置（小鼠）
染色體	小鼠18號染色體
終止	66,993,577 bp
RNA表達模式
	查閱更多表達數據
基因本體
分子功能	• G protein-coupled receptor activity; • signal transducer activity; • peptide hormone binding; • melanocyte-stimulating hormone receptor activity; • 血漿蛋白結合; • melanocortin receptor activity; • 泛素蛋白連接酶結合; • neuropeptide binding; • hormone binding;
細胞組分	• integral component of membrane; • 膜; • 細胞膜; • 細胞核;
生物學過程	• regulation of grooming behavior; • adenylate cyclase-modulating G protein-coupled receptor signaling pathway; • insulin secretion; • regulation of feeding behavior; • positive regulation of bone resorption; • diet induced thermogenesis; • response to insulin; • 進食行為; • negative regulation of feeding behavior; • energy reserve metabolic process; • regulation of metabolic process; • 信號轉導; • G protein-coupled receptor signaling pathway; • adenylate cyclase-activating G protein-coupled receptor signaling pathway;
	Sources:Amigo / QuickGO
直系同源
	4160
	17202
	ENSG00000166603
	ENSMUSG00000047259
	P32245
	P56450
	NM_005912
	NM_016977
	NP_005903
	NP_058673
	維基數據
檢視/編輯人類	檢視/編輯小鼠

MC4受體，即MC4R，是在人體中由MC4R基因編碼的黑素皮質素受體^[7]^[8]^[9]。它編碼MC4蛋白。在小鼠中，已發現MC4受體參與進食行為，代謝，性行為和男性勃起功能的調節^[10]^[11]^[12]。

據2008年的報導，MC4R突變與人類遺傳性肥胖有關^[13]。在體重指數大於30的人群中，該病的患病率為1.0–2.5％，是最容易導致肥胖的最常見遺傳缺陷。^{[來源請求]}

參考文獻

^ 與黑素皮质素受体4相關的疾病；在維基數據上查看/編輯參考.
^ 對黑皮质素受体4起作用的藥物；在維基數據上查看/編輯參考.
^ ^3.0 ^3.1 ^3.2 GRCh38: Ensembl release 89: ENSG00000166603 - Ensembl, May 2017
^ ^4.0 ^4.1 ^4.2 GRCm38: Ensembl release 89: ENSMUSG00000047259 - 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.
^ Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG, Cone RD. Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human. Mammalian Genome. August 1994, 5 (8): 503–8. PMID 7949735. doi:10.1007/BF00369320.
^ Sundaramurthy D, Campbell DA, Leek JP, Markham AF, Pieri LF. Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping. Cytogenetics and Cell Genetics. November 1998, 82 (1–2): 97–8. PMID 9763669. doi:10.1159/000015074.
^ Entrez Gene: MC4R melanocortin 4 receptor. （原始內容存檔於2010-03-07）.
^ Fan W, Boston BA, Kesterson RA, Hruby VJ, Cone RD. Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature. January 1997, 385 (6612): 165–8. Bibcode:1997Natur.385..165F. PMID 8990120. doi:10.1038/385165a0.
^ Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, Fang Q, Berkemeier LR, Gu W, Kesterson RA, Boston BA, Cone RD, Smith FJ, Campfield LA, Burn P, Lee F. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell. January 1997, 88 (1): 131–41. PMID 9019399. doi:10.1016/S0092-8674(00)81865-6.
^ Van der Ploeg LH, Martin WJ, Howard AD, Nargund RP, Austin CP, Guan X, et al. A role for the melanocortin 4 receptor in sexual function. Proceedings of the National Academy of Sciences of the United States of America. August 2002, 99 (17): 11381–6. Bibcode:2002PNAS...9911381V. PMC 123265 . PMID 12172010. doi:10.1073/pnas.172378699.
^ Loos, Ruth J. F.; Lindgren, Cecilia M.; Li, Shengxu; Wheeler, Eleanor; Zhao, Jing Hua; Prokopenko, Inga; Inouye, Michael; Freathy, Rachel M.; Attwood, Antony P.; Beckmann, Jacques S.; Berndt, Sonja I. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nature Genetics. June 2008, 40 (6): 768–775. ISSN 1546-1718. PMC 2669167 . PMID 18454148. doi:10.1038/ng.140.

[1] 與黑素皮质素受体4相關的疾病；在維基數據上查看/編輯參考.

[2] 對黑皮质素受体4起作用的藥物；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-3] 3.0 ^3.1 ^3.2 GRCh38: Ensembl release 89: ENSG00000166603 - Ensembl, May 2017

[refGRCm38Ensembl-4] 4.0 ^4.1 ^4.2 GRCm38: Ensembl release 89: ENSMUSG00000047259 - Ensembl, May 2017

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

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

[pmid7949735-7] Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG, Cone RD. Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human. Mammalian Genome. August 1994, 5 (8): 503–8. PMID 7949735. doi:10.1007/BF00369320.

[pmid9763669-8] Sundaramurthy D, Campbell DA, Leek JP, Markham AF, Pieri LF. Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping. Cytogenetics and Cell Genetics. November 1998, 82 (1–2): 97–8. PMID 9763669. doi:10.1159/000015074.

[9] Entrez Gene: MC4R melanocortin 4 receptor. （原始內容存檔於2010-03-07）.

[10] Fan W, Boston BA, Kesterson RA, Hruby VJ, Cone RD. Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature. January 1997, 385 (6612): 165–8. Bibcode:1997Natur.385..165F. PMID 8990120. doi:10.1038/385165a0.

[11] Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, Fang Q, Berkemeier LR, Gu W, Kesterson RA, Boston BA, Cone RD, Smith FJ, Campfield LA, Burn P, Lee F. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell. January 1997, 88 (1): 131–41. PMID 9019399. doi:10.1016/S0092-8674(00)81865-6.

[12] Van der Ploeg LH, Martin WJ, Howard AD, Nargund RP, Austin CP, Guan X, et al. A role for the melanocortin 4 receptor in sexual function. Proceedings of the National Academy of Sciences of the United States of America. August 2002, 99 (17): 11381–6. Bibcode:2002PNAS...9911381V. PMC 123265 . PMID 12172010. doi:10.1073/pnas.172378699.

[13] Loos, Ruth J. F.; Lindgren, Cecilia M.; Li, Shengxu; Wheeler, Eleanor; Zhao, Jing Hua; Prokopenko, Inga; Inouye, Michael; Freathy, Rachel M.; Attwood, Antony P.; Beckmann, Jacques S.; Berndt, Sonja I. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nature Genetics. June 2008, 40 (6): 768–775. ISSN 1546-1718. PMC 2669167 . PMID 18454148. doi:10.1038/ng.140.

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