Melanocortin 1 receptor

MC1R
Identifiers
AliasesMC1R, CMM5, MSH-R, SHEP2, Melanocortin 1 receptor
External IDsOMIM: 155555; MGI: 99456; HomoloGene: 1789; GeneCards: MC1R; OMA:MC1R - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002386

NM_008559

RefSeq (protein)

NP_002377

NP_032585

Location (UCSC)Chr 16: 89.91 – 89.92 MbChr 8: 124.13 – 124.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The melanocortin 1 receptor (MC1R), also known as melanocyte-stimulating hormone receptor (MSHR), melanin-activating peptide receptor, or melanotropin receptor, is a G protein–coupled receptor that binds to a class of pituitary peptide hormones known as the melanocortins, which include adrenocorticotropic hormone (ACTH) and the different forms of melanocyte-stimulating hormone (MSH). It is coupled to Gαs and upregulates levels of cAMP by activating adenylyl cyclase[5] in cells expressing this receptor. It is normally expressed in skin and melanocytes, and to a lesser degree in periaqueductal gray matter, astrocytes and leukocytes.[6] In skin cancer, MC1R is highly expressed in melanomas but not carcinomas.[7]

MC1R is one of the key proteins involved in regulating mammalian skin color and hair color. It is located on the plasma membrane of specialized cells known as melanocytes, which produce the pigment melanin through the process of melanogenesis. It controls the type of melanin being produced, and its activation causes the melanocyte to switch from generating the yellow-red phaeomelanin by default to the brown-black eumelanin in replacement.

In humans, a number of loss-of-function mutations of MC1R have been described, with redheads often having multiple individual loss-of-function mutations, but as of 2001, activating mutations that increase eumelanin synthesis have not been described.[8]

MC1R has also been reported to be involved in cancer (independent of skin coloration), developmental processes, and susceptibility to infections and pain.[9]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000258839Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000074037Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Wolf Horrell EM, Boulanger MC, D'Orazio JA (May 31, 2016). "Melanocortin 1 Receptor: Structure, Function, and Regulation". Frontiers in Genetics. 7 (95): 95. doi:10.3389/fgene.2016.00095. PMC 4885833. PMID 27303435.
  6. ^ Wang W, Guo DY, Lin YJ, Tao YX (2019). "Melanocortin Regulation of Inflammation". Frontiers in Endocrinology. 10: 683. doi:10.3389/fendo.2019.00683. PMC 6794349. PMID 31649620.
  7. ^ Salazar-Onfray F, López M, Lundqvist A, Aguirre A, Escobar A, Serrano A, et al. (August 2002). "Tissue distribution and differential expression of melanocortin 1 receptor, a malignant melanoma marker". British Journal of Cancer. 87 (4): 414–422. doi:10.1038/sj.bjc.6600441. PMC 2376124. PMID 12177778.
  8. ^ Rees JL (June 2000). "The melanocortin 1 receptor (MC1R): more than just red hair". Pigment Cell Research. 13 (3): 135–140. doi:10.1034/j.1600-0749.2000.130303.x. PMID 10885670.
  9. ^ "Red Alert!". 2017-11-02.