MC1R
Function
Receptor for MSH (alpha, beta and gamma) and ACTH (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11707265, PubMed:1325670, PubMed:16463023, PubMed:19737927). Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes (PubMed:31097585).
Involvement in disease
Melanoma, cutaneous malignant 5
CMM5
A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
Tissue Specificity
Expressed in melanocytes (PubMed:1325670, PubMed:31097585). Expressed in corticoadrenal tissue (PubMed:1325670).
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
MSHR, MC1R, Melanocyte-stimulating hormone receptor, MSH-R, Melanocortin receptor 1, MC1-R