黑素皮质素受体4 黑素皮质素受体4 已知的結構 PDB 直系同源搜索: PDBe RCSB PDBID列表 2IQP、​2IQR、​2IQS、​2IQU、​2IQV、​2IQW 識別號 别名 MC4R；, Melanocortin 4 receptor, BMIQ20 外部ID OMIM：155541 MGI：99457 HomoloGene：4320 GeneCards：MC4R 相關疾病 兒童肥胖、​体重[1] 為以下藥物的標靶 美拉諾坦 I、​美拉諾坦 II、​THIQ、​setmelanotide[2] 基因位置（人类） 染色体 18號染色體[3] 基因座 18q21.32 起始 60,371,062 bp[3] 终止 60,372,775 bp[3] 基因位置（小鼠） 染色体 小鼠18号染色体[4] 基因座 18|18 E1 起始 66,990,775 bp[4] 终止 66,993,577 bp[4] RNA表达模式 查阅更多表达数据 基因本體 分子功能 • G protein-coupled receptor activity • signal transducer activity • peptide hormone binding • melanocyte-stimulating hormone receptor activity • 血浆蛋白结合 • melanocortin receptor activity • 泛素蛋白连接酶结合 • neuropeptide binding • hormone binding 細胞組分 • integral component of membrane • 膜 • 细胞膜 • 细胞核 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 • 进食行为 • negative regulation of feeding behavior • energy reserve metabolic process • regulation of metabolic process • 訊息傳遞 • G protein-coupled receptor signaling pathway • adenylate cyclase-activating G protein-coupled receptor signaling pathway Sources:Amigo / QuickGO 直系同源 物種 人類 小鼠 Entrez 4160 17202 Ensembl ENSG00000166603 ENSMUSG00000047259 UniProt P32245 P56450 mRNA​序列 NM_005912 NM_016977 蛋白序列 NP_005903 NP_058673 基因位置​（UCSC） Chr 18: 60.37 – 60.37 Mb Chr 18: 66.99 – 66.99 Mb PubMed​查找 [5] [6] 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基因編碼的黑素皮质素受體[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. （原始内容存档于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.

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