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Aliases for MC1R Gene

Aliases for MC1R Gene

  • Melanocortin 1 Receptor 2 3
  • Melanocortin 1 Receptor (Alpha Melanocyte Stimulating Hormone Receptor) 2 3 5
  • Alpha Melanocyte Stimulating Hormone Receptor 2 3
  • MC1-R 3 4
  • MSH-R 3 4
  • 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 Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include G-protein coupled receptor activity and hormone binding. An important paralog of this gene is MC4R.

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

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

Genomics for MC1R Gene

Regulatory Elements for MC1R Gene

Genomic Location for MC1R Gene

Chromosome:
16
Start:
89,912,119 bp from pter
End:
89,920,977 bp from pter
Size:
8,859 bases
Orientation:
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:
    Q01726-MSHR_HUMAN
    Recommended name:
    Melanocyte-stimulating hormone receptor
    Protein Accession:
    Q01726
    Secondary Accessions:
    • Q66K38
    • Q6UR93
    • Q8WWX6
    • Q8WWX7
    • Q96I33
    • Q96RU4
    • Q9UBF7
    • Q9UN58
    • Q9UN59
    • Q9UN60
    • Q9UN61
    • Q9UN62

    Protein attributes for MC1R Gene

    Size:
    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

Proteomics data for MC1R Gene at MOPED

Post-translational modifications for MC1R Gene

  • Glycosylation at Asn 29
  • Modification sites at PhosphoSitePlus

Other Protein References for MC1R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MC1R Gene

Domains & Families for MC1R Gene

Gene Families for MC1R Gene

Graphical View of Domain Structure for InterPro Entry

Q01726

UniProtKB/Swiss-Prot:

MSHR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
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.
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 Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , 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

COMPARTMENTS
Jensen Localization Image for MC1R Gene 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 --
genes like me logo Genes that share ontologies with MC1R: view

Pathways & Interactions for MC1R Gene

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

Pathways by source for MC1R Gene

Gene Ontology (GO) - Biological Process for MC1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development TAS 7581459
GO:0010739 positive regulation of protein kinase A signaling IEA,ISS 18292087
GO:0019233 sensory perception of pain IEA --
GO:0030819 positive regulation of cAMP biosynthetic process IDA 19329486
GO:0032720 negative regulation of tumor necrosis factor production IMP 10233018
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desipramine Approved Pharma 39
CZEN 002 Investigational Pharma Target 0
EPT1647 Investigational Pharma Target 0
[<sup>125</sup>I]NDP-MSH Pharma Full agonist, Agonist 0
ASIP [90-132 (L89Y)] Pharma Inverse agonist, Antagonist 0

(17) Additional Compounds for MC1R Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NDP-MSH
Full agonist, Agonist
[Nle4,D-Phe7]-alpha-MSH
75921-69-6
gamma1-MSH
72629-65-3
Melanotan II
121062-08-6
genes like me logo Genes that share compounds with MC1R: view

Transcripts for MC1R Gene

mRNA/cDNA for MC1R Gene

Unigene Clusters for MC1R Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MC1R Gene

GeneLoc Exon Structure for
MC1R
ECgene alternative splicing isoforms for
MC1R

Expression for MC1R Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for MC1R Gene



SOURCE GeneReport for Unigene cluster for MC1R Gene Hs.513829

mRNA Expression by UniProt/SwissProt for MC1R Gene

Q01726-MSHR_HUMAN
Tissue specificity: Melanocytes and corticoadrenal tissue.
genes like me logo Genes that share expression patterns with MC1R: view

Protein tissue co-expression partners for MC1R Gene

- Elite partner

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia MC1R 35
  • 98.21 (n)
  • 97.47 (a)
MC1R 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MC1-R 36
  • 81 (a)
OneToOne
MC1R 35
  • 84.65 (n)
  • 80.76 (a)
dog
(Canis familiaris)
Mammalia MC1R 35
  • 83.91 (n)
  • 80.44 (a)
mouse
(Mus musculus)
Mammalia Mc1r 35
  • 79.68 (n)
  • 76.83 (a)
Mc1r 36
  • 77 (a)
OneToOne
Mc1r 16
oppossum
(Monodelphis domestica)
Mammalia MC1R 36
  • 27 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MC1R 36
  • 35 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mc1r 35
  • 81.07 (n)
  • 78.86 (a)
chicken
(Gallus gallus)
Aves MC1R 35
  • 74.04 (n)
  • 62.24 (a)
MC1R 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mc1r 35
  • 58.9 (n)
  • 53.4 (a)
zebrafish
(Danio rerio)
Actinopterygii mc1r 36
  • 54 (a)
OneToOne
mc1r 35
  • 63.46 (n)
  • 60.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 15 (a)
ManyToMany
-- 36
  • 17 (a)
ManyToMany
Species with no ortholog for MC1R:
  • 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

ENSEMBL:
Gene Tree for MC1R (if available)
TreeFam:
Gene Tree for MC1R (if available)

Paralogs for MC1R Gene

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

Q01726-MSHR_HUMAN
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.

Sequence variations from dbSNP and Humsavar for MC1R Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1805006 - 89,919,510(+) TCGGA(A/C/G)CTGCT reference, missense
rs2228479 - 89,919,532(+) GCAAC(A/C/G)TGCTG reference, missense
rs1805007 - 89,919,709(+) CACTG(C/G/T)GCTAC reference, missense
rs1805008 - 89,919,736(+) TGCCG(C/T)GGGCG reference, missense
VAR_008524 -

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

Variant ID Type Subtype PubMed ID
nsv428331 CNV Gain+Loss 18775914
dgv3009n71 CNV Loss 21882294
nsv907429 CNV Loss 21882294
nsv907433 CNV Loss 21882294
dgv3014n71 CNV Loss 21882294
dgv3015n71 CNV Loss 21882294
nsv907441 CNV Loss 21882294
nsv907442 CNV Loss 21882294
nsv907443 CNV Loss 21882294
nsv509640 CNV Insertion 20534489
nsv519064 CNV Loss 19592680
nsv525671 CNV Loss 19592680
nsv907444 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
MC1R
Human Gene Mutation Database (HGMD)
MC1R

Disorders for MC1R Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
melanoma, cutaneous malignant, 5
  • melanoma, cutaneous malignant 5
uv-induced skin damage
  • skin/hair/eye pigmentation, variation in, 2
albinism, oculocutaneous, type ii
  • albinism, brown oculocutaneous
albinism
melanoma, cutaneous malignant, 9
  • cmm9
- elite association - COSMIC cancer census association via MalaCards
Search MC1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSHR_HUMAN
  • 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)
MC1R
Human Genome Epidemiology (HuGE) Navigator
MC1R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MC1R
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 23 48 67
  2. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. (PMID: 20189796) Fargnoli M.C. … Raimondi S. (Eur. J. Cancer 2010) 3 23
  3. 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 E.V. … Lightfoot T. (Cancer Epidemiol 2010) 3 23
  4. alpha-MSH tripeptide analogs activate the melanocortin 1 receptor and reduce UV-induced DNA damage in human melanocytes. (PMID: 19558415) Abdel-Malek Z.A. … Knittel J.J. (Pigment Cell Melanoma Res 2009) 3 23
  5. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A&amp;gt;G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. (PMID: 18637131) Brudnik U. … Kanas P. (Exp. Dermatol. 2009) 3 23

Products for MC1R Gene

Sources for MC1R Gene

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