黑素皮质素受体4

黑素皮质素受体4
已知的结构
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	2IQP、2IQR、2IQS、2IQU、2IQV、2IQW
识别号
别名	MC4R；, Melanocortin 4 receptor, BMIQ20
外部ID	OMIM：155541 MGI：99457 HomoloGene：4320 GeneCards：MC4R
相关疾病
	儿童肥胖、体重
为以下药物的标靶
	美拉诺坦 I、美拉诺坦 II、THIQ、setmelanotide
基因位置（人类）
染色体	18号染色体
终止	60,372,775 bp
基因位置（小鼠）
染色体	小鼠18号染色体
终止	66,993,577 bp
RNA表达模式
	查阅更多表达数据
基因本体
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;
细胞组分	• integral component of membrane; • 膜; • 细胞膜; • 细胞核;
生物学过程	• 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; • 讯息传递; • 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
	维基数据
查看/编辑人类	查看/编辑小鼠

MC4受体，即MC4R，是在人体中由MC4R基因编码的黑素皮质素受体^[7]^[8]^[9]。它编码MC4蛋白。在小鼠中，已发现MC4受体参与进食行为，代谢，性行为和男性勃起功能的调节^[10]^[11]^[12]。

据2008年的报导，MC4R突变与人类遗传性肥胖有关^[13]。在体重指数大于30的人群中，该病的患病率为1.0–2.5％，是最容易导致肥胖的最常见遗传缺陷。^{[来源请求]}

参考文献

^ 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.

[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. （原始内容存档于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.

[7]

[8]

[9]

[10]

[11]

[12]

[1]

[2]

[3]

[4]

[5]

[6]

[13]