黑素皮质素受体1

MC1R 基因
识别号
别名	MC1R；, CMM5, MSH-R, SHEP2, Melanocortin 1 receptor
外部ID	OMIM：155555 MGI：99456 HomoloGene：1789 GeneCards：MC1R
相关疾病
	skin carcinoma、基底细胞癌（BCC）
为以下药物的标靶
	美拉诺坦 I、美拉诺坦 II
基因位置（人类）
染色体	16号染色体
终止	89,920,973 bp
基因位置（小鼠）
染色体	小鼠8号染色体
终止	124,137,483 bp
基因本体
分子功能	• G protein-coupled peptide receptor activity; • G protein-coupled receptor activity; • signal transducer activity; • melanocyte-stimulating hormone receptor activity; • 血浆蛋白结合; • melanocortin receptor activity; • 泛素蛋白连接酶结合;
细胞组分	• integral component of membrane; • 膜; • 细胞膜; • integral component of plasma membrane; • 胞内;
生物学过程	• G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; • multicellular organism development; • UV protection; • 肿瘤坏死因子产生的负调控; • UV-damage excision repair; • 信号转导; • positive regulation of protein kinase A signaling; • intracellular signal transduction; • 色素沉着; • positive regulation of transcription by RNA polymerase II; • positive regulation of protein kinase B signaling; • positive regulation of protein kinase C signaling; • G protein-coupled receptor signaling pathway; • adenylate cyclase-activating G protein-coupled receptor signaling pathway; • 痛觉; • melanin biosynthetic process;
	Sources:Amigo / QuickGO
直系同源
	4157
	17199
	ENSG00000258839
	ENSMUSG00000074037
	Q01726
	Q01727
	NM_002386
	NM_008559
	NP_002377
	NP_032585
	维基数据
查看/编辑人类	查看/编辑小鼠

黑素皮质素受体1 (MC1R)是一种G蛋白耦合受体，长度约为310个氨基酸左右，其基因序列只有一个外显子, 有7个跨膜结构域, 是最小的G蛋白耦合受体^[7]。

Quick Facts MC1R 基因, 识别号 ...

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MC1R是参与调节动物皮肤和毛发颜色的关键蛋白质之一。 MC1R基因的变异可引起动物黑色素形成的变化及毛色的变异。^[8]

参考文献

[1]
與MC1R 基因相關的疾病；在維基數據上查看/編輯參考.
[2]
對MC1R 基因起作用的藥物；在維基數據上查看/編輯參考.
[3]
GRCh38: Ensembl release 89: ENSG00000258839 - Ensembl, May 2017
[4]
GRCm38: Ensembl release 89: ENSMUSG00000074037 - 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.
[7]
Ren, Gang; Li, En; Zhao, Shiye; Jiang, Yanqiong; Wang, Shasha; Tang, Sixian; Hu, Huijian. Correlation between color polymorphism and the MC1R gene of Lanius schach. Biodiversity Science. 2020-06-20, 28 (6): 688. doi:10.17520/biods.2019307.
[8]
董飚; 秦豪荣,徐琪,李晓鸣,纪荣超,王健. 番鸭MC1R基因多态性与羽毛相关性分析. 江苏农业科学. 2017, 45 (10): 24–27 [2020-12-15].

外部链接

Melanocortin Receptors: MC₁. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. [2020-12-16]. （原始内容存档于2021-01-28）.
医学主题词表（MeSH）：Melanocortin+Receptor+1

[1] [1]
與MC1R 基因相關的疾病；在維基數據上查看/編輯參考.

[2] [2]
對MC1R 基因起作用的藥物；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-3] [3]
GRCh38: Ensembl release 89: ENSG00000258839 - Ensembl, May 2017

[refGRCm38Ensembl-4] [4]
GRCm38: Ensembl release 89: ENSMUSG00000074037 - Ensembl, May 2017

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

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

[7] [7]
Ren, Gang; Li, En; Zhao, Shiye; Jiang, Yanqiong; Wang, Shasha; Tang, Sixian; Hu, Huijian. Correlation between color polymorphism and the MC1R gene of Lanius schach. Biodiversity Science. 2020-06-20, 28 (6): 688. doi:10.17520/biods.2019307.

[8] [8]
董飚; 秦豪荣,徐琪,李晓鸣,纪荣超,王健. 番鸭MC1R基因多态性与羽毛相关性分析. 江苏农业科学. 2017, 45 (10): 24–27 [2020-12-15].

[7]

[1]

[2]

[3]

[4]

[5]

[6]

[8]