| Nomenclature | Genomic Location |
| Symbol | Mc1r | Chromosome | 2 |
| Name | Melanocyte-stimulating hormone receptor | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 2: 30 Mbp |
| Molecular Function |
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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
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| Human Disease Association |
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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].
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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
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