MC1R

Official Full Name

melanocortin 1 receptor

Organism

Homo sapiens

GeneID

4157

Background

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]

Synonyms

CMM5; MSH-R; SHEP2;

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Detailed Information

MC1R (melanocortin receptor 1), also known as melanocyte stimulating hormone receptor (MSHR), is encoded by the extension locus, with only one exon. The MC1R gene-encoded protein MC1R is a member of the G-protein coupled receptor-melanocortin receptor family and is the smallest G-protein coupled receptor. It is generally 310 amino acids in length (317 cattle and 314 chickens). Its protein has seven transmembrane domains. The MC1R gene plays an important regulatory role in the melanin synthesis pathway and is involved in the formation of coat color.

The Role of MC1R

The MC1R protein is the smallest G protein-coupled receptor and has many effects in the body, such as promoting and positively regulating the UV and anti-inflammatory effects in melanocytes and leukocytes. However, the most important function is to regulate skin pigmentation and participate in the reaction of skin with ultraviolet light, which in turn affects the formation of animal hair color.

When the melanocyte stimulating hormone (α-MSH) binds to MC1R on the melanocyte membrane, the G protein coupled to the receptor is converted from inactive guanosine diphosphate (GDP) to active guanosine triphosphate (GTP)., thereby activating the adenylate cyclase (AC) system on the membrane and catalyzing the conversion of adenosine triphosphate (ATP) to cyclic adenosine monophosphate (cAMP) in the presence of Mg2+, which further activates tyrosine kinase Activates tyrosinase (TYR) synthesized on the rough endoplasmic reticulum and free ribosomes, catalyzes the uptake of tyrosine (TY) from melanocytes by the melanocytes, and becomes a dopa through the Golgi complex. Dopa releases melanin and brown melanin after a certain amount of melanin accumulation.

Figure 1. Intracellular partners of MC1R. (Herraiz, et al. 2017)

Single Nucleotide Polymorphism of MC1R

MC1R is a highly polymorphic gene that has been shown to alter mammalian coat color, such as red guinea pigs, maroon horses, and red guinea pigs, as well as mutations in single nucleotide polymorphisms (SNPs). The MC1R gene polymorphism locus was detected and the sites that may affect human red hair, light skin color and skin cancer and their interactions were analyzed in detail. This will biochemicalize the MC1R gene polymorphism locus. The properties are directly combined with the pigmentation phenotype. Studies have shown that after extracting RNA from vitiligo patients and healthy human skin, quantitative studies were performed on eight genes containing the MC1R gene. Analysis of the experimental and control data showed that the MC1R gene expression was significantly different. Studies have shown that the MC1R gene is one of the major genes produced by freckles, and that freckled individuals have at least one mutation in the MC1R gene.

The healthy skin of 139 Han Chinese people was analyzed. Seven SNPs were found on the MC1R gene, namely SNP200, SNP274, SNP359, SNP421, SNP488, SNP497 and SNP942. Among them, SNP421 and SNP497 are the first reports of MC1R gene research in Chinese Han population. The analysis found that SNP274 was significantly correlated with freckle occurrence and skin; the heterozygous AG formed by SNP488 mutation was significantly correlated with dark hair; the homozygous GG formed after SNP942 mutation was significantly correlated with light skin type.

References:

Herraiz, C. , Garcia-Borron, J. C. , Jiménez-Cervantes, Celia, & Olivares, C. . (2017). Mc1r signaling. intracellular partners and pathophysiological implications. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, S0925443917300765.
Viki, S. , & Zalfa, A. M. . (2018). Mc1r: front and center in the bright side of dark eumelanin and dna repair. International Journal of Molecular Sciences, 19(9), 2667-.
Gabriella, E. , Gy?Rgy, P. , Tósaki ágnes, Eszter, J. , Kollár Sándor, & Csaba, H. , et al. (2018). Ultraviolet radiation-mediated development of cutaneous melanoma: an update. Journal of Photochemistry and Photobiology B: Biology, S1011134418303415-.

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