MC1R melanocortin 1 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MC1Rprovided by HGNC
Official Full Name: melanocortin 1 receptorprovided by HGNC
Primary source: HGNC:HGNC:6929
See related: Ensembl:ENSG00000258839 MIM:155555; AllianceGenome:HGNC:6929
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMM5; MSH-R; SHEP2
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (89918862..89920972)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (96005107..96007217)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (89985270..89987380)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Basis of MC1R Activation: Mutation-Induced Alterations in Structural Dynamics.
Title: Molecular Basis of MC1R Activation: Mutation-Induced Alterations in Structural Dynamics.
Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage.
Title: Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage.
A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1 Receptor Signaling with Emphasis on Protection against Oxidative Damage to DNA.
Title: A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1 Receptor Signaling with Emphasis on Protection against Oxidative Damage to DNA.
Activation of melanocortin-1 receptor signaling in melanoma cells impairs T cell infiltration to dampen antitumor immunity.
Title: Activation of melanocortin-1 receptor signaling in melanoma cells impairs T cell infiltration to dampen antitumor immunity.
Alpha-melanocyte stimulating hormone (alpha-MSH): biology, clinical relevance and implication in melanoma.
Title: Alpha-melanocyte stimulating hormone (α-MSH): biology, clinical relevance and implication in melanoma.
Melanocortin 1 Receptor (MC1R): Pharmacological and Therapeutic Aspects.
Title: Melanocortin 1 Receptor (MC1R): Pharmacological and Therapeutic Aspects.
The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Title: The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Melanocortin 1 receptor variants and their association with phenotypic characteristics and sporadic multiple primary melanomas in a cohort of 402 Spanish subjects.
Title: Melanocortin 1 receptor variants and their association with phenotypic characteristics and sporadic multiple primary melanomas in a cohort of 402 Spanish subjects.
AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.
Title: AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.
Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.
Title: Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.

Submit: New GeneRIF Correction See all GeneRIFs (293)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Increased analgesia from kappa-opioid receptor agonist, female-specific MedGen: C2751296 OMIM: 613098 GeneReviews: Not available	not available
Melanoma, cutaneous malignant, susceptibility to, 5 MedGen: C2751295 OMIM: 613099 GeneReviews: Not available	not available
Skin/hair/eye pigmentation, variation in, 2 MedGen: C1849452 OMIM: 266300 GeneReviews: Not available	not available
Tyrosinase-positive oculocutaneous albinism MedGen: C0268495 OMIM: 203200 GeneReviews: Oculocutaneous Albinism and Ocular Albinism Overview	not available

EBI GWAS Catalog

Description
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of hair, eye and skin pigmentation in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three loci associated with melanoma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three new melanoma susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of tanning phenotype in a population of European ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a melanoma susceptibility locus and somatic mutation in TET2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based, participant-driven studies yield novel genetic associations for common traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61142 (e-PCR)
- UniSTS:15695

RH92296 (e-PCR)
- UniSTS:84616

M73K (e-PCR), detects polymorphism
- UniSTS:254151

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled peptide receptor activity	TAS Traceable Author Statement more info	PubMed
enables hormone binding	IEA Inferred from Electronic Annotation more info
enables melanocortin receptor activity	TAS Traceable Author Statement more info	PubMed
enables melanocyte-stimulating hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables melanocyte-stimulating hormone receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS Traceable Author Statement more info	PubMed
involved_in UV protection	TAS Traceable Author Statement more info	PubMed
involved_in UV-damage excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in pigmentation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cAMP/PKA signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of pain	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: melanocyte-stimulating hormone receptor

Names: MC1-R; alpha melanocyte stimulating hormone receptor; melanotropin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.