Melanocortin 1 receptor

MC1R
Identifiers
Aliases	MC1R, CMM5, MSH-R, SHEP2, Melanocortin 1 receptor
External IDs	OMIM: 155555; MGI: 99456; HomoloGene: 1789; GeneCards: MC1R; OMA:MC1R - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q24.3 Start 89,912,119 bp[1] End 89,920,973 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 E1|8 72.1 cM Start 124,133,846 bp[2] End 124,137,483 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte right uterine tube left testis right hemisphere of cerebellum anterior pituitary right testis gastric mucosa left lobe of thyroid gland right lobe of thyroid gland left ovary Top expressed in hair follicle Ileal epithelium iris embryo neural layer of retina epithelium of lens skin of abdomen yolk sac cornea More reference expression data BioGPS n/a
Gene ontology Molecular function G protein-coupled peptide receptor activity G protein-coupled receptor activity signal transducer activity melanocyte-stimulating hormone receptor activity protein binding melanocortin receptor activity ubiquitin protein ligase binding Cellular component integral component of membrane membrane plasma membrane integral component of plasma membrane intracellular anatomical structure Biological process G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger multicellular organism development UV protection negative regulation of tumor necrosis factor production UV-damage excision repair signal transduction positive regulation of protein kinase A signaling intracellular signal transduction pigmentation 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 sensory perception of pain melanin biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4157 17199 Ensembl ENSG00000258839 ENSMUSG00000074037 UniProt Q01726 Q01727 RefSeq (mRNA) NM_002386 NM_008559 RefSeq (protein) NP_002377 NP_032585 Location (UCSC) Chr 16: 89.91 – 89.92 Mb Chr 8: 124.13 – 124.14 Mb PubMed search [3] [4]
Wikidata
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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 G_αs 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]