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MC1R melanocortin 1 receptor [ Homo sapiens (human) ]

Gene ID: 4157, updated on 25-Nov-2021

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
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
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Genomic context

See MC1R in Genome Data Viewer
Location:
16q24.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (89918862..89920972)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89985270..89987380)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene spire type actin nucleation factor 2 Neighboring gene uncharacterized LOC105371419 Neighboring gene uncharacterized LOC112268179 Neighboring gene transcription factor 25 Neighboring gene Sharpr-MPRA regulatory region 7867 Neighboring gene tubulin beta 3 class III Neighboring gene small nucleolar RNA, H/ACA box 119 Neighboring gene differentially expressed in FDCP 8 homolog

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
GeneReviews: Not available
Cutaneous malignant melanoma 5
MedGen: C2751295 OMIM: 613099 GeneReviews: Not available
Compare labs
Genetic determinants of hair, eye and skin pigmentation in Europeans.
GeneReviews: Not available
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
GeneReviews: Not available
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
GeneReviews: Not available
Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.
GeneReviews: Not available
Genome-wide association study identifies three loci associated with melanoma risk.
GeneReviews: Not available
Genome-wide association study identifies three new melanoma susceptibility loci.
GeneReviews: Not available
Genome-wide association study of tanning phenotype in a population of European ancestry.
GeneReviews: Not available
Identification of a melanoma susceptibility locus and somatic mutation in TET2.
GeneReviews: Not available
Increased analgesia from kappa-opioid receptor agonist, female-specific
MedGen: C2751296 OMIM: 613098 GeneReviews: Not available
Compare labs
Skin/hair/eye pigmentation, variation in, 2
MedGen: C1849452 OMIM: 266300 GeneReviews: Not available
Compare labs
Tyrosinase-positive oculocutaneous albinism
MedGen: C0268495 OMIM: 203200 GeneReviews: Not available
Compare labs
Web-based, participant-driven studies yield novel genetic associations for common traits.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: TUBB3

Homology

Clone Names

  • MGC14337

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled peptide receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
PubMed 
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 multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of tumor necrosis factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pigmentation TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of feeding behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein kinase A signaling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of protein kinase C signaling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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
PubMed 
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
PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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.

Genomic

  1. NG_012026.1 RefSeqGene

    Range
    5984..8094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002386.4NP_002377.4  melanocyte-stimulating hormone receptor

    See identical proteins and their annotated locations for NP_002377.4

    Status: REVIEWED

    Source sequence(s)
    AK024232, BE410897, CF528726
    Consensus CDS
    CCDS56011.1
    UniProtKB/Swiss-Prot
    Q01726
    UniProtKB/TrEMBL
    Q1JUL4
    Related
    ENSP00000451605.1, ENST00000555147.2
    Conserved Domains (2) summary
    pfam00001
    Location:55298
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:45180
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    89918862..89920972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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