MC1R

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]

Description

Melanocortin 1 receptor

Tissue specificity

Tissue enhanced (pituitary gland, testis)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
G-protein coupled receptors
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins

Chromosome

16 (89912119 - 89920973)

Ensembl ID

ENSG00000258839  (ver. 103.38)

Orthologs

Mouse Mc1r: ENSMUSG00000074037

UniProt

Q01726

neXtProt

NX_Q01726

Human splice variants
Mouse splice variants

Protein structure