Details for gene: MC1R


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]


Symbol
MC1R
Name
melanocortin 1 receptor
Entrez ID
4157
Ensembl ID
ENSG00000258839    (more details)
KEGG ID
hsa:4157    (more details)
OMIM ID
613099
Uniprot ID
Q1JUL4  
GO ID
hsa:4157    (more details)
Chromosome
16
Strand
1
Start
89912119
End
89920973
miRNA Interactions
hsa-miR-101-3p (RPM: 3335.0564) / hsa-miR-1343-3p (RPM: 3.6608) / hsa-miR-146a-5p (RPM: 774.8698) / hsa-miR-425-5p (RPM: 187.631) / hsa-miR-574-3p (RPM: 347.515) /
Involved Diseases
uveal melanoma /
Involved Pathways
Neuroactive ligand-receptor interaction / Melanogenesis / Disease / Infectious disease / Signal Transduction / Leishmania infection / Anti-inflammatory response favouring Leishmania parasite infection / Leishmania parasite growth and survival / Signaling by GPCR / Class A/1 (Rhodopsin-like receptors) / Peptide ligand-binding receptors / GPCR downstream signalling / GPCR ligand binding / G alpha (s) signalling events / ADORA2B mediated anti-inflammatory cytokines production /
Sequence
TGAGGGCAGTGCCCAGAATTGAAGGCGAAGCCCCAGAAGCATGTTTTGCAGAGAAGTGCCCAGGGAAGCTCTGAGGGCCCATGTAGCAAAGATCAGGGGATAGTCGGTCTGAGGGTGAATGGGCCACTCGGACCAAGACCCCAGTCTTGGGGGAGGGCTTAGCTGGAGCAGGTCCTGGCACAGTTGACTGATGGTGCACAGAACCCGTGCATCCCACGGCCCCACGGTGCTGCAGCTGCAGGAGGGGCGGAGGCTGCAGCCAGACAGCATCAGAAGCCAGCGTGGTTCTGGAAGGATCGAGAACACCAAGGTGTTAGGGCTGCAGCAGGGGTCCTGTCCCCTGGCACCCCTCACCGCCCTAATCTTTTACCCTTAGGAGGCAGCAGACACGAGGGGCTGCCCGAGGCTCTAGGGCGGCCAGTGAGGCAGGAAACATGTTCCAGCCCCAGCTAGGTACTGGTCCGTGGACCCACCTCCCAGAAAGCCCATCACTGTGTAATCGTCTAACCTGGGGCTCGCCGAGGCCTGTGAGTTCATCCTTTTGGCAGTTCCTGGTGTCTCCTTACTCTGCTCAGCATTTCCTGGGCGGGAGCTTAGGGTGCAGGACCCTCCCCAGGACGACGAGGGCCCAGTGTCCATGACAAGAGTTGGCCCGAGGGCTGAGCCACGTGTGCCCATCTCAGACGTGGGCCTGAGGGTGCAGCCCTGGCCCTGTGCTGGCCATTTCTAGGAGCGGTGCCCTGAGGTCCCAGCTGTGATAGCCCCACGCTCTGCAGGAAGAGATCATGGGGGCGGGGAGTTGGTGCTGCGGCCTCGTTCCTCTCTGCAGTGAGTGAACGATGTTTGTGGTCAGCAGGAGCCTGTGGGGAGCACAGGCTGGTCCTCCTGGTGTCCCACCCACCCCTTTTTCCATGGGGGATCTGCACTCATCTCCAGGGAAGATGGTTGGGAGATAACCCCAGTCTGCTCTAGGTCCCCACCCTCCACAGCCAGGGTGGTCCGTGGTGAGCTTCAGCCATCGAGATGCGGGAGTCTGCTAGAGTCTTCAGGGTCTTTTCTCTGAAAATGACAGGCTAGCAAGGAGACCTGGGTCCCCTGCCTCTTCCATTCCAGATGCCTTGAGTCCACCCAAATAGGGGATGTGATGTTTGGAGCTGCAGCAGCCGCCCTACGGTTGGGAGTCAGAGAAGAGCCGGTGTTCCAGGGACAATGCAGCAGAGGCTGAGCCCAGGCCTGCTGTCCTGAGAGGTGGCTGGATCACTGACACTTTGGCAGTGGTGCTGGGGTTTATGTCATGACCTGCAGCTGAGCCTACTTCCAATGACCGTGAGATCTGAAAGACTGTTTTGAGGGCGTAGCCTCTGCCATGATTGTGGGGAATGCTGTCCTGTTTCCTCCCTTGGCCCTGCTCAGCCCAGCGAGAGGCTGAGGCGCACGTGGCTCCCCGGGTGCCCACAGGCAGCGTGGCTCACCAGCCGGGCCCTTTTCCACTGAGCCAGAACCCCCCAAAGCCTTCAATGCAGGCACCACGGTGAGCCCACGAGAAACCCTGCTTGCCACCTCCCACACCCCCACCCCCAAGTTCAAAGGAAATGGTCCCTGAACCAAGGGCTGAGATCAGCTGTGGGTCCAGCTGTCCTGGGGAGCTGTACTGGAGCCCACCACGGTGGGACTGTTGGTCCGGCGGTGACCCCCACCTCCATGTCTGTGGCCGCAGCTGGACAGGCCACTCCCTGGGCCACAGAGATGTTTTACCTCTCGCAGCCCTCGGGCACACATTGAGCAGATGTGTGTGTGTGTGCGTGTGTGGGTGGGTGCGCATTTGTGTGTGCCTGTGTGTGTGCGCATGTGGTGTGGGTGCACGTGTGTGCACGTGTGTGGGTAAACATTGTGTGTGCGCATACGTGTGTGGGTAAACATTTGTATGTGCACGCGTGTGTGGGTAAACGTGTGTGCGCACGTATGTATGTGTGTACATTTGTATGTGTGTACATTTGTATGCATGTGTGCCTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGTGCCTGTGTGTGTGTGTGCACGTATGTATGTGTGCACACTTGTATGCATGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGCGCCTGTGTGGGTGCACATTTGTGTGTGTGTGTGCCTGTGTGTGTGCCTGTGTGTGTGGGTGCCTGTGTGTGTGGGGCACATTTGTGTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTGTGTGTGCCTCTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTGTGTGTGCGCCTGTGTGTGGGGGTGCACATTTGTGTGTGCGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGCGCCTGTGTGTGTGGGTGCCTGTGTGTGTGTGGGGCACATTTGTGTGTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTGTGTGTGCCTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTGTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTGTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTGTGTGTGTGCCTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGTGCCTGTGTGTGTGTTGCAGGCCCTGGATGCCAGACACTGAATAAACGCAGGAAGACGTCTGTCTTCATTCTCCTCGTGGGTCGCTGGTCCAGAAACACCTGGATGGAAAGTGCTCTGCAGGAACGGTGCCTCTGCCTGTGGCGGGGACCCTGGTGAGCGGATGGGCCAGCCCCACGTGTCTTCCGGCCACTCAGCATGCAGTGTTTCCAGGGGCACTAAGAGACCAAAATCGAGATATGATTAGCTGTAGGATGTCATCTAATCACAGATCATCCCGAGGCTAATTTATCTCCCCCATGACCATAACACATCAAAAAGTTGACTTTTTGCAGCTCGGCTGTGCCTCATCTTCCCACGAAGCCCCGACAGGCACATCCAGTGAGGAACCACAGTGGGAGTCCTGTGGCAGGGTCACCCCACTTCCGATGCCCTCCAGCTGCATCTTGGCACGAAAAAGGCTGCCCAGTTCTCATGCCCTTTCAAGTCCCGGGCTGGGGGGTAGCAGTGGAGGCTGGGGTTAACCGCCGTCCGTCTCAAAGGCCTCATTGTGGAGCTGCAAACACGAACGTCCTTGAAATGTGAGGGGACAGTGCTCTGGGGCAGGGGCTGCTCACTGGTTCATGGCCAGAGGTGAGCGGGCTCTGGGTCTGGGTCTGTGAGGTGCTGTGGACGTCGGGGGTGCTCCTGGGGCAGGGACACAGCCACGGCCCTCACACCAGTGGAGCCGTCTTCCTTCCCGAGGCAGAGGCTTGGCCTTCTCACACCTTGGGACCCTTCTCTCCCCTGTGCTCATGCTGGAAGCACAGCGTGAGGGGGCAAAGGTCATGGGAGGCAAAAGGCTGGGCTGAGGCCGAGGCTCTGTGGCTGTGGCCGGATACCAGGTCCTGTGGTGGTGTGGGCAGGGCGCGCTCTCTCCTCTGAGCAGCCTGGGGCTGCGTGTGTGAACAGAAACAGGCCTGCCGATTTGAAGATGGTTTGACCAAGTCTCCCAAAGCTGAAGAGAGGTCCCTGCCCATGTCCCCCGGGTGGCAATCCACAGACGCACCTGTGTCCATCAGACGGTATCGTTGATAGGGAGTCTGAAGCCACCCAGACGTGGTCTGTTCACGCCGTGGACACCACGGTCTGAGGCAGACGGTTACAGCCACCGGCATAGGCGAATCTCAGCCAGAGAGAGTGAACTGGGACACCATTCACGTGATGGGCCAGATGGGCTGGCAGCGGCTCGCTGGAGCCGTCCGGGTGGGAACGCTGTGTCTGTTGGTCTGGTGCTGCTTATGTGGCTGGTTCAGGTCTGTCATCCGTCAACCTGCATATTTATCACTGGTGCATTTTCATGTATGTTGTACCTCAATTAAAACATTTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCGGAGGCGGGAGGATCATGAGGTCAGGAGATCAAGACCGTCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAAATACAAAAATTTGCCGGGTGTGGCGGCACGCGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGGTATGAGAATTACTTGAACCCAGTAGGCAGAGGCTACCGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAATTAAAGCAGATGGGGTGTGGGGGCTCATCCCTGTAATCTCAGCATTTTGGGAGGCTGAGGCGGACCGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCTCATCTCTACAAAAAATACAAAAAATAGCCAGGTGTGGTAGTGGGTGCCGTAGTCCCAGCTAGTTGGGAGGCTGAGGCATAAGTATTGCTTGAATCCAGAAGGTGGAGGTTGCAGTGAGCCAAGAATGCACCACTACACTCCAGCCTGCGCGACAGAGTGAAACTGTCTCAAAATAAATAAATACATAAAAATTATATGTATATATATATATATATATATTTTTTTTTTTTTGAGACTGTATCTCTGTTTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATATTACCCAAGCTGGTCTTGAACTCCTGACCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGGGTGAGCCACTGTGCCCGGCAATAATAATTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACGGCAACCTCCGCCTCTCATGTTCAAGCTATTATCCTGACTCAGCTGGGATTACAGGCACCCACCACCACACCTGGCTGATTTTGGTATTTTTAGTAGAGACGGGGTTTCTCCATGTCGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGCCCTGAGCCACCATGGCTGACAATAATAAAAAATTTTAAAGCAAAACTAAAGATTTATAAATTGTAAAATGCGGTTGTAACAAGTATTTACTGTACCAGTAAATATGAAAAATATTAATGTCCTCACACACATGGAGGTGGCTTGTGAGTGGTGTGAGCATTTCATGGTCAGAGTTTGGCAGTTGGGCGAGAGACAGGATGGATTTTAACTCGAACATCGCAGACACAAAACTGAAAACCCTGATGCGGTGCCTGCACCGTTGCCTCCTTTCCTGCAGCTGTAAATGGGACGAGTAATTCCATCCCCCTCCCGCTTCCACCCTTCAGCACAGACGCAGTCTTCAGCAAGGAAGTGCTGGGAACGCCCTGGAGTGAACCCAGGAAGATGCCTGCAGTGGGTGCCAGGGCCCCTCTCCACCGTCCCTGCTGGGCTTCGGGGCCACGCCCGACTGCTGTGAACGGCCTGCGGAGCACCACGTGCGACGGCTGGAGGCGAGAGGTCTGCCTTTGATGTGGCTGTTGGTGCAGGGCCTGTGGTGCCTTCCGCAGCGGAAATGGCGCGCCGCCCGGGGAGGGCGGGAGCAGCGTCCCGGGTGCCCCTGTGAGGATGAGCGACGAGATGACTGGAGGGTCCCTGAAGACCTCACTAGGGTGCCCCCAGCCGGTCCGCTCCCAGGAAGCGACACCCCCACAGCCCCAGGGCTGCAGCTGAGGGGGTCGCCACTCTGGCTGGGCGAGGCTGGGCCCTTGGGGGCAGGCGCCAGAGTGGCCTCAGGCTCTACAAGATGCCTGAAAACACCAACCTCTCCAGGGCTCACTAGCATTGGACGCTTTCACGCTCTGCCCTGGCCGGAAGCCCCCTCACCCCGCGCGATGTGCAAACTCCTGCAGGGCTCACTCAGTTTCCAGAACTTTAATTATTGGAAAGTTCTCCCTGGTCCAGCCCCCAAATCTGCCGTGAACGTTGACAGCTGAGTTGCTGCTCCATGCGTGCTTTGGCTGAGAGCAGAGGGGACCCCTGTCCTCCCTGAGCTGCTGACGAGGGGAGGGGTGAAGGGTGGGGCCTCTGGAGAGGGCAGGTCCCGGGGAAGCTCCGGACTCCTAGAGGGGCGGCCAGGTGGGGGCCCTGGTGACCAGGACAGACTGTGGTGTTTTTTAACGTAAAGGAGATCCGCGGTGTGAGGGACCCCCTGGGTCCTGCACGCCGCCTGGTGGCAGGCCGGGCCATGGTGGGTGCTCACGCCCCCGGCATGTGGCCGCCCTCAGTGGGAGGGGCTCTGAGAACGACTTTTTAAAACGCAGAGAAAAGCTCCATTCTTCCCAGGACCTCAGCGCAGCCCTGGCCCAGGAAGGCAGGAGACAGAGGCCAGGACGGTCCAGAGGTGTCGAAATGTCCTGGGGACCTGAGCAGCAGCCACCAGGGAAGAGGCAGGGAGGGAGCTGAGGACCAGGCTTGGTTGTGAGAATCCCTGAGCCCAGGCGGTAGATGCCAGGAGGTGTCTGGACTGGCTGGGCCATGCCTGGGCTGACCTGTCCAGCCAGGGAGAGGGTGTGAGGGCAGATCTGGGGGTGCCCAGATGGAAGGAGGCAGGCATGGGGGACACCCAAGGCCCCCTGGCAGCACCATGAACTAAGCAGGACACCTGGAGGGGAAGAACTGTGGGGACCTGGAGGCCTCCAACGACTCCTTCCTGCTTCCTGGACAGGACTATGGCTGTGCAGGGATCCCAGAGAAGACTTCTGGGCTCCCTCAACTCCACCCCCACAGCCATCCCCCAGCTGGGGCTGGCTGCCAACCAGACAGGAGCCCGGTGCCTGGAGGTGTCCATCTCTGACGGGCTCTTCCTCAGCCTGGGGCTGGTGAGCTTGGTGGAGAACGCGCTGGTGGTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCATGTACTGCTTCATCTGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGAGCAACGTGCTGGAGACGGCCGTCATCCTCCTGCTGGAGGCCGGTGCACTGGTGGCCCGGGCTGCGGTGCTGCAGCAGCTGGACAATGTCATTGACGTGATCACCTGCAGCTCCATGCTGTCCAGCCTCTGCTTCCTGGGCGCCATCGCCGTGGACCGCTACATCTCCATCTTCTACGCACTGCGCTACCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTGCGGCCATCTGGGTGGCCAGTGTCGTCTTCAGCACGCTCTTCATCGCCTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGAGCCCTCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGCACTGGGGCCTCAGCCTGCTTTCCTGCAGCAGTCGCCCAAGCAGACAGCCCTGGCAAATGCCTGACTCAGTGACCAGTGCCTGTGAGCATGGGGCCAGGAAAGTCTGGTAATAAATGTGACTCAGCATCACCCAC

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