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Gene Model: Mc1r

NomenclatureGenomic Location
SymbolMc1rChromosome2
NameMelanocyte-stimulating hormone receptorLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 30 Mbp

Molecular Function

Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

Molecular Function Terms:

binding
   hormone binding
   peptide binding
      peptide receptor activity
         peptide receptor activity, G-protein coupled
   protein binding
      enzyme binding

molecular transducer activity
   signal transducer activity
      receptor activity
         peptide receptor activity
            peptide receptor activity, G-protein coupled
         transmembrane receptor activity
            G-protein coupled receptor activity

receptor activity

Human Disease Association

Genetic variations in MC1R are a cause of susceptibility to cutaneous malignant melanoma type 5 (CCM5) [MIM:613099]. Malignant melanoma is 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.

Polymorphism: Genetic variations in MC1R are associated with variation in skin/hair/eye pigmentation type 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].

Predicted Transcript
     1 AGGCTACGTGGTGGAGCTATGAACCGATCCCTGGGGAAGAGTTACACTTCAGAAGGATGC
    61 TACGAGCAACTTTTTGTCTCGCCGGAAGTCTTTGTTACTCTTGGCTTTGTCAGCTTGCTA
   121 GAGAATGTCCTGGTGATCGTGGCTATAGCCAAGAACAAGAATTTGCATTCCCCAATGTAT
   181 TTTTTCATTTGCAGCTTAGCTGTGGCAGACTTGCTTGTGAGTGTCTCCAATGGGTCGGAA
   241 ACTATCGTCATCACCCTCTTGAACAACACAGACGTGGGCGGCCACAGTTTCACGGTCAGC
   301 ATTGACAATATAATTGACTCGGTGATCTGCAGCTCCTTGCTCGCCTCTATTTGTAGTCTG
   361 CTCTCCATAGCTGTGGACAGGTACTTTACCATCTTCTATGCTCTCCAGTACCATAACATC
   421 ATGACGGTCCGGCGCGTAGGTATCATTATCACCTGCATCTGGGCTGCTTGCACTGTTTCA
   481 GGCATCCTGTTCATCATATATTCCGACAGCAGCGTGGTCATCATTTGTCTCATCAGCATG
   541 TTCTTTACCATGCTAGTCCTCATGGCATCTCTCTATGTCCACATGTTCCTCCTGGCCCGG
   601 CTGCATATTAAAAAGATTGCCATTCTTCCAGGCACGGGACCCATCTGTCAACGGGCCAAC
   661 ATGAAGGGGGCAATCACTTTGACCATTTTGATTGGGGTTTTTGTGGTGTGCTGGGCCCCA
   721 CTCTTCTTCCATTTGCTTTTCTACATCTCCTGCCCCCACAATCCGTACTGCATTTGCTTC
   781 ATGTCACATTTTCACCTCTACCTCATCCTTATCATGTGCAATTCCATTATTGATCCACTT
   841 ATTTATGCATTCCGGAGTCAAGAGCTGAGGAAAACCTTCAAAGAGATTATGTGCTGTTAC
   901 AGCCTGCGAGAGCTGTGTGATTTCTCCAGCAAATAC

Predicted Protein Product
RLRGGAMNRSLGKSYTSEGCYEQLFVSPEVFVTLGFVSLLENVLVIVAIAKNKNLHSPMY
FFICSLAVADLLVSVSNGSETIVITLLNNTDVGGHSFTVSIDNIIDSVICSSLLASICSL
LSIAVDRYFTIFYALQYHNIMTVRRVGIIITCIWAACTVSGILFIIYSDSSVVIICLISM
FFTMLVLMASLYVHMFLLARLHIKKIAILPGTGPICQRANMKGAITLTILIGVFVVCWAP
LFFHLLFYISCPHNPYCICFMSHFHLYLILIMCNSIIDPLIYAFRSQELRKTFKEIMCCY
SLRELCDFSSKY
Protein Alignment to Mouse
sp|Q01727|MSHR_MOUSE Melanocyte-stimulating hormone receptor OS=Mus musculus
            GN=Mc1r PE=2 SV=1
        Length = 315

 Score = 651 (234.2 bits), Expect = 1.5e-64, P = 1.5e-64
 Identities = 134/280 (47%), Positives = 179/280 (63%)

Query:    24 LFVS-PE-VFVTLGFVSLLENVLVIVAIAKNKNLHSPMYFFICSLAVADLLVSVSNGSET 81
             L+VS P+ +F++LG VSL+ENVLV++AI KN+NLHSPMY+FIC LA++DL+VSVS   ET
Sbjct:    34 LYVSIPDGLFLSLGLVSLVENVLVVIAITKNRNLHSPMYYFICCLALSDLMVSVSIVLET 93

Query:    82 IVITLLN-NTDVGGHSFTVSIDNIIDXXXXXXXXXXXXXXXXXXXDRYFTIFYALQYHNI 140
              +I LL     V   +    +DN+ID                   DRY +IFYAL+YH+I
Sbjct:    94 TIILLLEVGILVARVALVQQLDNLIDVLICGSMVSSLCFLGIIAIDRYISIFYALRYHSI 153

Query:   141 MTVRRVGIIITCIWAACTVSGILFIIYSDSSVVIICLISMFFTMLVLMASLYVHMFLLAR 200
             +T+ R    +  IW    VS  LFI Y   + V++CL++ F  ML LMA LY HMF  A 
Sbjct:   154 VTLPRARRAVVGIWMVSIVSSTLFITYYKHTAVLLCLVTFFLAMLALMAILYAHMFTRAC 213

Query:   201 LHIKKIAIL-PGTGPICQRANMKGAITLTILIGVFVVCWAPLFFHLLFYISCPHNPYCIC 259
              H++ IA L      I Q   +KGA TLTIL+G+F +CW P F HLL  + CP +P C C
Sbjct:   214 QHVQGIAQLHKRRRSIRQGFCLKGAATLTILLGIFFLCWGPFFLHLLLIVLCPQHPTCSC 273

Query:   260 FMSHFHLYLILIMCNSIIDPLIYAFRSQELRKTFKEIMCC 299
                +F+L+L+LI+ +S +DPLIYAFRSQELR T KE++ C
Sbjct:   274 IFKNFNLFLLLIVLSSTVDPLIYAFRSQELRMTLKEVLLC 313