Aliases for MC1R Gene
External Ids for MC1R Gene
Previous GeneCards Identifiers for MC1R Gene
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]
GeneCards Summary for MC1R Gene
MC1R (Melanocortin 1 Receptor (Alpha Melanocyte Stimulating Hormone Receptor)) is a Protein Coding gene. Diseases associated with MC1R include albinism, oculocutaneous, type ii and uv-induced skin damage. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include ubiquitin protein ligase binding and G-protein coupled peptide receptor activity. An important paralog of this gene is LPAR1.
UniProtKB/Swiss-Prot for MC1R Gene
Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase
Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). Endogenous antagonists include agouti and agouti-related protein (AgRP). The melanocortin receptors are G-protein-coupled and 5 subtypes exist, MC1-5. The melanocortins are involved in a wide range of physiological functions, including pigmentation, energy homeostasis, inflammation, immunomodulation, steroidogenesis and temperature control.