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MC1R Gene

protein-coding   GIFtS: 64
GCID: GC16P089982

Melanocortin 1 Receptor (Alpha Melanocyte Stimulating Hormone...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Melanocortin 1 Receptor (Alpha Melanocyte Stimulating Hormone
Receptor)1 2
     Melanocyte-Stimulating Hormone Receptor2
MC1-R2 3     Melanotropin Receptor2
MSH-R2 3     MSHR3
CMM52 5     Melanocortin Receptor 13
SHEP22 5     

External Ids:    HGNC: 69291   Entrez Gene: 41572   Ensembl: ENSG000002588397   OMIM: 1555555   UniProtKB: Q017263   

Export aliases for MC1R gene to outside databases

Previous GC identifers: GC16P081304 GC16P090971 GC16P089685 GC16P089727 GC16P088513 GC16P089985


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (alpha melanocyte stimulating hormone receptor)) is a protein-coding gene. Diseases associated with MC1R include ocular melanoma, and vulvar vestibulitis syndrome. GO annotations related to this gene include G-protein coupled peptide receptor activity and ubiquitin protein ligase binding. An important paralog of this gene is CNR1.

UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726
Function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G
proteins which activate adenylate cyclase

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). Endogenous antagonists
include agouti and agouti-related protein (AgRP). The melanocortin receptors are G-protein-coupled and 5
subtypes exist, MC1-5. The melanocortins are involved in a wide range of physiological functions, including
pigmentation, energy homeostasis, inflammation, immunomodulation, steroidogenesis and temperature control.

Gene Wiki entry for MC1R (Melanocortin 1 receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the MC1R gene promoter:
         HOXA9B   HOXA9   CREB   NRSF form 1   MyoD   ZIC2/Zic2   NRSF form 2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MC1R promoter sequence
   Search Chromatin IP Primers for MC1R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MC1R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

MC1R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MC1R gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P089982:  view genomic region     (about GC identifiers)

Start:
89,978,527 bp from pter      End:
89,987,385 bp from pter
Size:
8,859 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726 (See protein sequence)
Recommended Name: Melanocyte-stimulating hormone receptor  
Size: 317 amino acids; 34706 Da
Subunit: Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with
GNAS-binding and thus inhibits agonist-induced cAMP production
Secondary accessions: Q66K38 Q6UR93 Q8WWX6 Q8WWX7 Q96I33 Q96RU4 Q9UBF7 Q9UN58 Q9UN59 Q9UN60
Q9UN61 Q9UN62

Explore the universe of human proteins at neXtProt for MC1R: NX_Q01726

Explore proteomics data for MC1R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn29
  • Modification sites at PhosphoSitePlus

  • See MC1R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002377.4  
    ENSEMBL proteins: 
     ENSP00000451760   ENSP00000451605  
    Reactome Protein details: Q01726

    MC1R Human Recombinant Protein Products:

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    MC1R Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MCNR: GPCR / Class A : Melanocortin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: MC1 receptor
    Melanocortin receptors

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000761 MSH_rcpt
     IPR001671 Melcrt_ACTH_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry Q01726

    ProtoNet protein and cluster: Q01726

    2 Blocks protein domains:
    IPB000761 Melanocyte stimulating hormone receptor signature
    IPB001671 Melanocortin receptor family signature


    UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726
    Similarity: Belongs to the G-protein coupled receptor 1 family


    MC1R for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MSHR_HUMAN, Q01726
    Function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G
    proteins which activate adenylate cyclase

         Genatlas biochemistry entry for MC1R:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004977melanocortin receptor activity TAS9571181
    GO:0004980melanocyte-stimulating hormone receptor activity IPI19743876
    GO:0005515protein binding IPI19329486
    GO:0008528G-protein coupled peptide receptor activity TAS18292087
         
    MC1R for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MC1R:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Mc1r):
     behavior/neurological  cellular  craniofacial  growth/size/body  hearing/vestibular/ear 
     integument  limbs/digits/tail  no phenotypic analysis  pigmentation  tumorigenesis 

    MC1R for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MC1R
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MC1R
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MC1R

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    1 qRT-PCR Assays for microRNA that regulate MC1R:
    hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidMC1R 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MC1R (NM_002386)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MSHR_HUMAN, Q01726: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol4
    nucleus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9571181
    GO:0015630microtubule cytoskeleton ----
    GO:0016021integral component of membrane ----

    MC1R for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MC1R About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    Peptide ligand-binding receptors0.60
    2Protein folding
    Chaperonin-mediated protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    Protein folding0.91
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Prefoldin mediated transfer of substrate to CCT/TriC
    Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding0.76
    Prefoldin mediated transfer of substrate to CCT/TriC0.72
    Formation of tubulin folding intermediates by CCT/TriC0.76
    5Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MC1R
        Melanocyte Development and Pigmentation

    2 BioSystems Pathways for MC1R
        GPCRs, Class A Rhodopsin-like
    Peptide GPCRs

    2 Reactome Pathways for MC1R
        Peptide ligand-binding receptors
    G alpha (s) signalling events


    2 Kegg Pathways  (Kegg details for MC1R):
        Neuroactive ligand-receptor interaction
    Melanogenesis


    MC1R for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MC1R: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MC1R

    4 Interacting proteins for MC1R (Q017263) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POMCP011893I2D: score=2 
    ASIPP421273I2D: score=1 
    MC4RP322453I2D: score=1 
    MGRN1O602913I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007187G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS9571181
    GO:0007275multicellular organismal development TAS7581459
    GO:0009650UV protection TAS7581459
    GO:0010739positive regulation of protein kinase A signaling ISS18292087

    MC1R for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for MC1R available from Tocris Bioscience    About this table
    CompoundAction CAS #
    [D-Trp8]-gamma-MSHSelective MC3 receptor agonist[321351-81-9]
    PG 106Selective MC3 receptor antagonist[944111-22-2]
    alpha-MSHEndogenous melanocortin receptor agonist[581-05-5]
    SHU 9119 MC3 and MC4 antagonist, MC5 partial agonist [168482-23-3]
    HS 014Selective MC4 receptor antagonist[207678-81-7]

    9 IUPHAR Ligands for MC1R (MC1 receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    NDP-MSH
    AgonistFull agonist1012007532 3286233
    [125I]NDP-MSH
    AgonistFull agonist9.515840392
    MT-II
    AgonistFull agonist9.412007532 2535874
    SHU9119
    AgonistPartial agonist9.27658432 10657491
    MS05
    AgonistFull agonist9.110764951
    alpha-MSH
    AgonistFull agonist8.412007532
    ASIP [90-132 (L89Y)]
    AntagonistInverse agonist8.19058374 11705773
    HS024
    AntagonistAntagonist7.79832440
    HS014
    AgonistPartial agonist710657491

    Selected Novoseek inferred chemical compound relationships for MC1R gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    eumelanin 92 57 16524431 (2), 12006619 (2), 16827749 (2), 12503631 (2) (see all 30)
    phaeomelanin 88.5 15 10403794 (1), 7581459 (1), 10101176 (1), 11837451 (1) (see all 8)
    alpha msh 84.4 28 16177130 (4), 12439754 (3), 12473109 (3), 11689486 (2) (see all 6)
    acth 68.7 45 11041375 (3), 10029451 (2), 15498881 (2), 15748644 (2) (see all 22)
    dopachrome 64.9 3 9862732 (1), 11493672 (1), 12519127 (1)
    shu 9119 64.1 1 17127674 (1)
    tripeptide 44.3 1 19558415 (1)
    tripeptide s 38 1 15102092 (1)
    vitamin d 21.9 9 15210908 (1), 17523926 (1), 15609895 (1), 11720436 (1) (see all 6)
    cyclic amp 18.9 11 15102092 (2), 16274845 (2), 9571181 (1), 12503631 (1)



    MC1R for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MC1R gene: 
    NM_002386.3  

    Unigene Cluster for MC1R:

    Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
    Hs.513829  [show with all ESTs]
    Unigene Representative Sequence: NM_002386
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539976(uc010ciy.1) ENST00000555427 ENST00000555147(uc002fpe.4)


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      QuantiFast Probe-based Assays in human, mouse, rat MC1R

    Additional mRNA sequence: 

    AK024232.1 AK054666.1 AK225902.1 BC007856.2 BC080622.1 X67594.1 

    6 DOTS entries:

    DT.406626  DT.120721036  DT.100735529  DT.121643636  DT.97778643  DT.120720907 

    Selected AceView cDNA sequences (see all 933):

    CR615484 BX461480 CA421315 CR615754 CR611346 AF427491 BQ926969 BM048567 
    CR616697 CR594431 BQ958358 AW003626 BQ676579 BU538781 CR619439 BX460714 
    CR624252 AL533166 CR612703 CR622759 BP354182 CA413850 BF983200 BX442892 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MC1R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCCAGGAA
    MC1R Expression
    About this image


    MC1R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    MC1R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MC1R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513829

    UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726
    Tissue specificity: Melanocytes and corticoadrenal tissue

        Pathway & Disease-focused RT2 Profiler PCR Array including MC1R: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC1R

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MC1R gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mc1r1 , 5 melanocortin 1 receptor1, 5 79.68(n)1
    76.83(a)1
      8 (72.10 cM)5
    171991  NM_008559.21  NP_032585.21 
     1234070825 
    chicken
    (Gallus gallus)
    Aves MC1R1 melanocortin 1 receptor (alpha melanocyte stimulating more 74.04(n)
    62.24(a)
      427562  NM_001031462.1  NP_001026633.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mc1r1 melanocortin 1 receptor (alpha melanocyte stimulating more 58.9(n)
    53.4(a)
      100496792  XM_002937584.2  XP_002937630.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mc1r1 melanocortin 1 receptor 63.46(n)
    60.82(a)
      353151  NM_180970.1  NP_851301.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MC1R gene
    CNR12  GPR122  LPAR22  S1PR12  CNR22  S1PR32  S1PR22  LPAR12  
    MC3R2  MC5R2  MC2R2  GPR32  MC4R2  S1PR42  GPR62  LPAR32  
    S1PR52  
    5 SIMAP similar genes for MC1R using alignment to 42 protein entries:     MSHR_HUMAN (see all proteins):
    MC4R    MC3R    MC5R    LOC441453    MC2R

    MC1R for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    MSHR_HUMAN, Q01726: 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
    MSHR_HUMAN, Q01726: MC1R variants associated with red hair and fair skin, determine female-specific increased analgesia
    from kappa-opioid receptor agonist [MIM:613098]


    Selected SNPs for MC1R (see all 238)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0590254
    Melanoma, cutaneous malignant 5 (CMM5)4--see VAR_0590252 C R mis40--------
    VAR_0590224
    Melanoma, cutaneous malignant 5 (CMM5)4--see VAR_0590222 M T mis40--------
    VAR_0590184
    Melanoma, cutaneous malignant 5 (CMM5)4--see VAR_0590182 V M mis40--------
    VAR_0590204
    Melanoma, cutaneous malignant 5 (CMM5)4--see VAR_0590202 V A mis40--------
    VAR_0590194
    Melanoma, cutaneous malignant 5 (CMM5)4--see VAR_0590192 S F mis40--------
    rs18050051,2,,4
    C,F,Hpathogenic189985844(+) TGGTGG/TTGGCC 2 V L mis125Minor allele frequency- T:0.06MN NS EA NA EU 3099
    rs22284791,2,,4
    C,F,Hpathogenic189985940(+) GCAACG/ATGCTG 2 /M /V mis126Minor allele frequency- A:0.10MN NS NA EA EU 3238
    rs18050071,2,,4
    C,F,Hpathogenic189986117(+) CACTGC/G/TGCTAC 2 R C mis126NS NA EA MN EU 2536
    rs18050081,2,,4
    C,F,Hpathogenic189986144(+) TGCCGC/TGGGCG 2 R W mis123Minor allele frequency- T:0.04NS MN EA NA EU 2939
    rs18050061,2,,4
    C,Fother189985918(+) TCGGAC/ACTGCT 2 /E /D mis18Minor allele frequency- A:0.01MN NA EU 1001

    HapMap Linkage Disequilibrium report for MC1R (89978527 - 89987385 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MC1R (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509640CNV Insertion20534489
    nsv907442CNV Loss21882294
    dgv3009n71CNV Loss21882294
    nsv907433CNV Loss21882294
    nsv907429CNV Loss21882294
    nsv907444CNV Loss21882294
    nsv907443CNV Loss21882294
    nsv907441CNV Loss21882294
    nsv519064CNV Loss19592680
    dgv3015n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): MC1R
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MC1R
    DNA2.0 Custom Variant and Variant Library Synthesis for MC1R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 155555   
    OMIM disorders: 266300  613098  203200  613099  
    UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726
  • 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.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for MC1R (see all 43):    
    About MalaCards
    ocular melanoma    vulvar vestibulitis syndrome    uv-induced skin damage    cutaneous malignant melanoma
    albinism, oculocutaneous, type ii, modifier of    melanoma, cutaneous malignant, 5    large congenital melanocytic nevus    hypotropia
    back pain    oculocutaneous albinism type 2    familial melanoma    xeroderma pigmentosum, group c
    congenital nystagmus    type vi ehlers-danlos syndrome    melanoma, malignant, somatic    nevoid basal cell carcinoma syndrome
    exotropia    oculocutaneous albinism    basal cell carcinoma    acanthosis nigricans

    4 diseases from the University of Copenhagen DISEASES database for MC1R:
    Melanoma     Skin cancer     Oculocutaneous albinism     Hypotropia

    MC1R for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for MC1R gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 82 386 12177778 (7), 15998953 (7), 12439754 (7), 16172233 (7) (see all 99)
    skin cancer 80.1 67 16721784 (4), 12753400 (3), 17130136 (3), 12006619 (2) (see all 39)
    freckles 75.6 15 11487574 (5), 18079748 (1), 15250941 (1), 17371441 (1) (see all 5)
    melanoma cloudman s91 63.7 2 10614575 (1)
    albinism oculocutaneous 63.5 7 11499678 (1), 19710684 (1), 18392143 (1), 17570052 (1)
    nevi 63 9 10536983 (1), 16214921 (1), 15998953 (1), 14709592 (1) (see all 8)
    nonmelanoma skin cancer 60.3 7 11254446 (3), 16982779 (1), 11830546 (1), 11708951 (1)
    dysplastic nevi 57.3 4 16214921 (2), 19484507 (1), 16172233 (1)
    carcinoma basal cell 52.7 18 11179997 (3), 10340440 (2), 16645598 (2), 18067130 (2) (see all 8)
    albinism 46.8 1 14616056 (1)

    Genetic Association Database (GAD): MC1R
    Human Genome Epidemiology (HuGE) Navigator: MC1R (100 documents)

    Export disorders for MC1R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MC1R gene, integrated from 10 sources (see all 487):
    (articles sorted by number of sources associating them with MC1R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population. (PubMed id 17434924)1, 2, 4, 9 Fernandez L.... Ribas G. (Carcinogenesis 2007)
    2. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)1, 2, 4 Sulem P.... Stefansson K. (Nat. Genet. 2007)
    3. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. (PubMed id 20189796)1, 4, 9 Fargnoli M.C....Raimondi S. (Eur. J. Cancer 2010)
    4. Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer. (PubMed id 19493000)1, 4, 9 Bauer J....Bastian B.C. (Exp. Dermatol. 2009)
    5. High polymorphism at the human melanocortin 1 receptor locus. (PubMed id 10101176)1, 2, 9 Rana B.K....Li W.H. (Genetics 1999)
    6. Melanocortin 1 receptor (MC1R), pigmentary characteristics and sun exposure: findings from a case-control study of diffuse large B-cell and follicular lymphoma. (PubMed id 20129839)1, 4, 9 Kane E.V....Lightfoot T. (Cancer Epidemiol 2010)
    7. Does MC1R genotype convey information about melanoma risk beyond risk phenotypes? (PubMed id 20301115)1, 4, 9 Kanetsky P.A....Rebbeck T.R. (Cancer 2010)
    8. Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes. (PubMed id 19484507)1, 4, 9 Chaudru V....Bressac-de Paillerets B. (Fam. Cancer 2009)
    9. MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. (PubMed id 18067130)1, 4, 9 Scherer D....Kumar R. (Int. J. Cancer 2008)
    10. Melanocortin 1 receptor (MC1R) genotype influences erythemal sensitivity to psoralen-ultraviolet A photochemotherapy. (PubMed id 17916200)1, 4, 9 Smith G....Ibbotson S.H. (Br. J. Dermatol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4157 HGNC: 6929 AceView: MC1RandTUBB4 Ensembl:ENSG00000258839 euGenes: HUgn4157
    ECgene: MC1R Kegg: 4157 H-InvDB: MC1R

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MC1R Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MC1R Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/mc1r/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MC1R gene:
    Search GeneIP for patents involving MC1R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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