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Aliases for MC1R Gene

Aliases for MC1R Gene

  • Melanocortin 1 Receptor 2 3 5
  • Alpha Melanocyte Stimulating Hormone Receptor 2 3
  • MC1-R 3 4
  • MSH-R 3 4
  • Melanocortin 1 Receptor (Alpha Melanocyte Stimulating Hormone Receptor) 2
  • Melanocyte-Stimulating Hormone Receptor 3
  • Melanocortin Receptor 1 4
  • Melanotropin Receptor 3
  • SHEP2 3
  • CMM5 3
  • MSHR 4

External Ids for MC1R Gene

Previous GeneCards Identifiers for MC1R Gene

  • GC16P081304
  • GC16P090971
  • GC16P089685
  • GC16P089727
  • GC16P088513
  • GC16P089985
  • GC16P089982

Summaries for MC1R Gene

Entrez Gene Summary 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) is a Protein Coding gene. Diseases associated with MC1R include Melanoma, Cutaneous Malignant, 5 and Uv-Induced Skin Damage. Among its related pathways are G alpha (s) signalling events and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and hormone binding. An important paralog of this gene is ENSG00000198211.

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.

Tocris Summary for MC1R Gene

  • Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.

Gene Wiki entry for MC1R Gene

Additional gene information for MC1R Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MC1R Gene

Genomics for MC1R Gene

Regulatory Elements for MC1R Gene

Enhancers for MC1R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H089993 1.6 Ensembl ENCODE dbSUPER 65.4 +83.1 83129 3.5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 ZBTB7B SLC30A9 ENSG00000259877 AFG3L1P ANKRD11 MC1R TCF25 ACSF3 ZNF778 LINC00304 LOC101927863 SNORD68
GH16H089503 1.8 FANTOM5 ENCODE dbSUPER 38 -405.1 -405136 6.1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 AFG3L1P MC1R ANKRD11 ZC3H18 ENSG00000268218 SPG7 TCF25 LOC101927863 RPL13 ACSF3
GH16H089558 1.7 Ensembl ENCODE dbSUPER 33.7 -349.5 -349494 7.9 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF610 GLIS1 ANKRD11 AFG3L1P TCF25 ZC3H18 ENSG00000259877 ENSG00000268218 RPL13 LOC101927863 MC1R ACSF3
GH16H089917 1.6 Ensembl ENCODE dbSUPER 34 +6.2 6248 2.2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B MC1R ENSG00000259877 ENSG00000268218 ANKRD11 TCF25 LOC101927863 AFG3L1P GAS8 ACSF3 RPL13
GH16H089717 1.4 ENCODE dbSUPER 30.9 -191.1 -191066 7.5 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 AFG3L1P MC1R CDK10 TCF25 LOC101927863 ANKRD11 ENSG00000268218 VPS9D1 DBNDD1 VPS9D1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MC1R on UCSC Golden Path with GeneCards custom track

Genomic Locations for MC1R Gene

Genomic Locations for MC1R Gene
8,859 bases
Plus strand

Genomic View for MC1R Gene

Genes around MC1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MC1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MC1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MC1R Gene

Proteins for MC1R Gene

  • Protein details for MC1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Melanocyte-stimulating hormone receptor
    Protein Accession:
    Secondary Accessions:
    • Q66K38
    • Q6UR93
    • Q8WWX6
    • Q8WWX7
    • Q96I33
    • Q96RU4
    • Q9UBF7
    • Q9UN58
    • Q9UN59
    • Q9UN60
    • Q9UN61
    • Q9UN62

    Protein attributes for MC1R Gene

    317 amino acids
    Molecular mass:
    34706 Da
    Quaternary structure:
    • Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production.

neXtProt entry for MC1R Gene

Post-translational modifications for MC1R Gene

  • Glycosylation at posLast=2929
  • Modification sites at PhosphoSitePlus

Other Protein References for MC1R Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MC1R Gene

Domains & Families for MC1R Gene

Gene Families for MC1R Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family.
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MC1R: view

Function for MC1R Gene

Molecular function for MC1R Gene

GENATLAS Biochemistry:
melanocortin receptor 1,murine extension (Ext) homolog,expressed in cells of melanocytic origin and adrenal cortex,G protein coupled receptor superfamily,regulator of eumelanin and phaeomelanin production
UniProtKB/Swiss-Prot Function:
Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

Phenotypes From GWAS Catalog for MC1R Gene

Gene Ontology (GO) - Molecular Function for MC1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004977 melanocortin receptor activity TAS 9571181
GO:0004980 melanocyte-stimulating hormone receptor activity IPI 19743876
GO:0005515 protein binding IPI 19329486
GO:0008528 G-protein coupled peptide receptor activity TAS 18292087
genes like me logo Genes that share ontologies with MC1R: view
genes like me logo Genes that share phenotypes with MC1R: view

Human Phenotype Ontology for MC1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MC1R Gene

MGI Knock Outs for MC1R:
  • Mc1r tm1.1(KOMP)Vlcg

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MC1R
  • R&D Systems cDNA Clones for MC1R (Melanocortin-1 R/MC1R)

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MC1R Gene

Localization for MC1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for MC1R Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MC1R gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for MC1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 9571181
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MC1R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MC1R Gene

Pathways & Interactions for MC1R Gene

genes like me logo Genes that share pathways with MC1R: view

Gene Ontology (GO) - Biological Process for MC1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 9571181
GO:0007275 multicellular organism development TAS 7581459
GO:0009650 UV protection TAS 7581459
genes like me logo Genes that share ontologies with MC1R: view

No data available for SIGNOR curated interactions for MC1R Gene

Drugs & Compounds for MC1R Gene

(36) Drugs for MC1R Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Afamelanotide Approved, Investigational Pharma Target 0
Desipramine Approved Pharma 39
CZEN 002 Investigational Pharma Target 0
Bremelanotide Investigational Pharma agonist 0
[<sup>125</sup>I]NDP-MSH Pharma Full agonist, Agonist 0

(12) Additional Compounds for MC1R Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Full agonist, Agonist

(5) Tocris Compounds for MC1R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist 75921-69-6
alpha-MSH Endogenous melanocortin receptor agonist 581-05-5
Melanocyte-stimulating hormone release inhibiting factor Inhibitor of alpha-MSH release; inhibits opioid effects in vivo 2002-44-0
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
THIQ Potent and selective MC4 receptor agonist 312637-48-2

(8) ApexBio Compounds for MC1R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-α-MSH 75921-69-6
BMS 470539 dihydrochloride MC1 receptor,potent and selective 457893-92-4
HS 014 207678-81-7
HS 024 212370-59-7
MCL 0020 475498-26-1
Melanotan II 121062-08-6
THIQ 312637-48-2
α-MSH 581-05-5
genes like me logo Genes that share compounds with MC1R: view

Drug Products

Transcripts for MC1R Gene

Unigene Clusters for MC1R Gene

Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MC1R
  • R&D Systems cDNA Clones for MC1R (Melanocortin-1 R/MC1R)

Alternative Splicing Database (ASD) splice patterns (SP) for MC1R Gene

No ASD Table

Relevant External Links for MC1R Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MC1R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MC1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MC1R Gene

This gene is overexpressed in Brain (43.5), Lung (12.7), and Saliva (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MC1R Gene

Protein tissue co-expression partners for MC1R Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MC1R Gene:


SOURCE GeneReport for Unigene cluster for MC1R Gene:


mRNA Expression by UniProt/SwissProt for MC1R Gene:

Tissue specificity: Melanocytes and corticoadrenal tissue.

Evidence on tissue expression from TISSUES for MC1R Gene

  • Skin(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MC1R Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MC1R: view

No data available for mRNA differential expression in normal tissues for MC1R Gene

Orthologs for MC1R Gene

This gene was present in the common ancestor of chordates.

Orthologs for MC1R Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MC1R 33 34
  • 98.21 (n)
(Bos Taurus)
Mammalia MC1R 33
  • 84.65 (n)
MC1-R 34
  • 81 (a)
(Canis familiaris)
Mammalia MC1R 33
  • 83.91 (n)
(Rattus norvegicus)
Mammalia Mc1r 33
  • 81.07 (n)
(Mus musculus)
Mammalia Mc1r 33 16 34
  • 79.68 (n)
(Ornithorhynchus anatinus)
Mammalia MC1R 34
  • 35 (a)
(Monodelphis domestica)
Mammalia MC1R 34
  • 27 (a)
(Gallus gallus)
Aves MC1R 33 34
  • 74.04 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mc1r 33
  • 58.9 (n)
(Danio rerio)
Actinopterygii mc1r 33 34
  • 63.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
-- 34
  • 15 (a)
Species where no ortholog for MC1R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MC1R Gene

Gene Tree for MC1R (if available)
Gene Tree for MC1R (if available)

Paralogs for MC1R Gene

genes like me logo Genes that share paralogs with MC1R: view

Variants for MC1R Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MC1R Gene

Genetic variants in MC1R define the skin/hair/eye pigmentation variation locus 2 (SHEP2) [MIM:266300]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator, with type I skin being the most lightly pigmented and type IV the most dark pigmented. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. Partial loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer risk.
MC1R variants associated with red hair and fair skin, determine female-specific increased analgesia from kappa-opioid receptor agonist [MIM:613098].

Sequence variations from dbSNP and Humsavar for MC1R Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs200050206 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] 89,919,370(+) TGGAG(A/G)TGTCC reference, missense
rs369542041 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] 89,920,123(+) TCATC(C/T)GCAAT upstream-variant-2KB, reference, missense
rs374235260 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] 89,919,641(+) CTCCA(C/T)GCTGT reference, missense
rs766080391 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099] 89,919,410(+) GCTGG(C/T)GAGCT reference, missense
VAR_059019 Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]

Structural Variations from Database of Genomic Variants (DGV) for MC1R Gene

Variant ID Type Subtype PubMed ID
nsv573810 CNV loss 21841781
nsv573799 CNV gain 21841781
nsv525671 CNV loss 19592680
nsv519064 CNV loss 19592680
nsv509640 CNV insertion 20534489
nsv482951 CNV loss 15286789
nsv428331 CNV gain+loss 18775914
nsv1070371 CNV deletion 25765185
nsv1066499 CNV loss 25217958
esv2762221 CNV gain+loss 21179565

Variation tolerance for MC1R Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.04; 80.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MC1R Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for MC1R Gene

MalaCards: The human disease database

(20) MalaCards diseases for MC1R Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melanoma, cutaneous malignant, 5
  • cmm5
uv-induced skin damage
  • skin/hair/eye pigmentation, variation in, 2
albinism, oculocutaneous, type ii
  • albinism, brown oculocutaneous
mc1r-related cutaneous malignant melanoma
  • melanoma, cutaneous malignant, 5
ocular melanoma
  • eye melanoma
- elite association - COSMIC cancer census association via MalaCards
Search MC1R in MalaCards View complete list of genes associated with diseases


  • Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:17434924, ECO:0000269 PubMed:19338054}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for MC1R

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MC1R: view

No data available for Genatlas for MC1R Gene

Publications for MC1R Gene

  1. MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population. (PMID: 17434924) Fernandez L … Ribas G (Carcinogenesis 2007) 3 4 22 45 60
  2. Melanocortin 1 receptor (MC1R), pigmentary characteristics and sun exposure: findings from a case-control study of diffuse large B-cell and follicular lymphoma. (PMID: 20129839) Kane EV … Lightfoot T (Cancer epidemiology 2010) 3 22 45 60
  3. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. (PMID: 20189796) Fargnoli MC … Raimondi S (European journal of cancer (Oxford, England : 1990) 2010) 3 22 45 60
  4. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. (PMID: 18637131) Brudnik U … Kanas P (Experimental dermatology 2009) 3 22 45 60
  5. MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters. (PMID: 19077144) Höiom V … Hansson J (Pigment cell & melanoma research 2009) 3 22 45 60

Products for MC1R Gene

Sources for MC1R Gene

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