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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MC1R
melanocortin 1 receptor
Chromosome 16 · 16q24.3
NCBI Gene: 4157Ensembl: ENSG00000258839.5HGNC: HGNC:6929UniProt: Q01726
379PubMed Papers
21Diseases
4Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Highly Studied
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of melanin biosynthetic processUV-damage excision repairubiquitin protein ligase bindingplasma membraneAbnormality of skin pigmentationcutaneous melanomaerythropoietic protoporphyriaskin neoplasm
✦AI Summary

MC1R is a G protein-coupled receptor that serves as the primary regulator of human skin pigmentation and UV protection. Upon binding melanocyte-stimulating hormone (α-MSH), a product of the POMC precursor protein, MC1R couples to Gs proteins and activates adenylate cyclase, triggering cAMP-dependent signaling that promotes melanogenesis—the production of both eumelanin (brown/black) and pheomelanin (red/yellow) pigments 1. MC1R signaling also enhances DNA repair following UV irradiation 2, providing critical photoprotection. MC1R activity requires palmitoylation mediated by ZDHHC13, which can be enhanced by AMPK phosphorylation to strengthen signaling in individuals carrying loss-of-function red hair color (RHC) variants 3. Genetic variations in MC1R, particularly RHC variants associated with fair skin and poor tanning ability, significantly increase melanoma susceptibility 45. Notably, MC1R activation in melanoma cells suppresses T cell infiltration through GNAS-PKA-mediated inhibition of chemokines (CXCL9/10/11), promoting immune evasion and resistance to checkpoint blockade therapy 6. While CDKN2A mutations confer the strongest hereditary melanoma risk, MC1R represents a moderate genetic risk factor 7. These findings suggest MC1R as both a fundamental pigmentation regulator and a therapeutic target for melanoma prevention and immunotherapy.

Sources cited
1
MC1R polymorphisms correlate with skin fairness, UV sensitivity, and enhanced cancer risk
PMID: 23749111
2
MC1R is among several melanoma predisposing genes, particularly in hereditary melanoma cases
PMID: 32249949
3
MC1R palmitoylation mediated by ZDHHC13 is essential for cAMP signaling, melanin production, UV-induced cell cycle arrest, and prevention of melanomagenesis
PMID: 28869973
4
α-MSH stimulates MC1R leading to m-MITF expression and melanogenesis; MC1R variants affect pigmentation and increase skin malignancy risk
PMID: 33320376
5
AMPK phosphorylates ZDHHC13 to enhance MC1R palmitoylation in RHC variants, suppressing UVB-induced melanocyte transformation and melanomagenesis
PMID: 36701140
6
MC1R activation in melanoma cells inhibits CXCL9/10/11 transcription through GNAS-PKA signaling, impairing T cell infiltration and promoting ICB resistance
PMID: 37714844
7
MC1R is a moderate genetic risk factor for melanoma development
PMID: 19095153
Disease Associationsⓘ21
Abnormality of skin pigmentationOpen Targets
0.72Strong
cutaneous melanomaOpen Targets
0.57Moderate
erythropoietic protoporphyriaOpen Targets
0.55Moderate
skin neoplasmOpen Targets
0.53Moderate
skin cancerOpen Targets
0.52Moderate
oculocutaneous albinism type 6Open Targets
0.52Moderate
hair colorOpen Targets
0.50Moderate
oculocutaneous albinism type 2Open Targets
0.50Moderate
basal cell carcinomaOpen Targets
0.49Moderate
actinic keratosisOpen Targets
0.49Moderate
skin diseaseOpen Targets
0.48Moderate
skin sensitivity to sunOpen Targets
0.47Moderate
melanomaOpen Targets
0.46Moderate
phototoxic dermatitisOpen Targets
0.46Moderate
squamous cell carcinomaOpen Targets
0.45Moderate
sebaceous gland diseaseOpen Targets
0.45Moderate
seborrheic dermatitisOpen Targets
0.44Moderate
erythematosquamous dermatosisOpen Targets
0.44Moderate
cutaneous squamous cell carcinomaOpen Targets
0.42Moderate
neoplasmOpen Targets
0.39Weak
Melanoma, cutaneous malignant 5UniProt
Pathogenic Variants2
NM_002386.4(MC1R):c.840del (p.Phe280fs)Pathogenic
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
★★☆☆2020→ Residue 280
NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter)Likely pathogenic
Tyrosinase-positive oculocutaneous albinism|Skin and Hair Hypopigmentation
☆☆☆☆2015→ Residue 298
View on ClinVar ↗
Drug Targets4
AFAMELANOTIDEApproved
Melanocortin receptor 1 agonist
erythropoietic protoporphyria
AFAMELANOTIDE ACETATEApproved
Melanocortin receptor 1 agonist
erythropoietic protoporphyria
DERSIMELAGONPhase III
Melanocortin receptor 1 agonist
erythropoietic protoporphyria
MODIMELANOTIDEPhase II
Melanocortin receptor 1 agonist
candidiasis
Related Genes
POMCProtein interaction100%CDKN2AProtein interaction100%GNB1Protein interaction100%GNASProtein interaction100%ATRNProtein interaction99%OCA2Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Lung
40%
Liver
28%
Bone Marrow
27%
Heart
14%
Brain
9%
Gene Interaction Network
Click a node to explore
MC1RPOMCCDKN2AGNB1GNASATRNOCA2
PROTEIN STRUCTURE
Preparing viewer…
PDB7F4H · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.93LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.54 [0.65–1.93]
RankingsWhere MC1R stands among ~20K protein-coding genes
  • #797of 20,598
    Most Researched379 · top 5%
  • #522of 1,025
    FDA-Approved Drug Targets2
  • #4,203of 5,498
    Most Pathogenic Variants2
  • #17,505of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedMC1R
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
UV radiation and the skin.
PMID: 23749111
Int J Mol Sci · 2013
1.00
2
Germline mutations predisposing to melanoma.
PMID: 32249949
J Cutan Pathol · 2020
0.90
3
Skin Pigmentation: Is the Control of Melanogenesis a Target within Reach?
PMID: 30558112
Int J Mol Sci · 2018
0.84
4
Palmitoylation-dependent activation of MC1R prevents melanomagenesis.
PMID: 28869973
Nature · 2017
0.80
5
Skin pigmentation and its control: From ultraviolet radiation to stem cells.
PMID: 33320376
Exp Dermatol · 2021
0.70