LOCUS NM_002386 3115 bp mRNA linear PRI 26-NOV-2019 DEFINITION Homo sapiens melanocortin 1 receptor (MC1R), mRNA. ACCESSION NM_002386 VERSION NM_002386.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 3115) AUTHORS Budden T and Bowden NA. TITLE MC1R CpG island regulates MC1R expression and is methylated in a subset of melanoma tumours JOURNAL Pigment Cell Melanoma Res 32 (2), 320-325 (2019) PUBMED 30267482 REMARK GeneRIF: methylation of a CpG island (CGI) within the MC1R gene can control expression of MC1R in melanoma. REFERENCE 2 (bases 1 to 3115) AUTHORS Chen S, Han C, Miao X, Li X, Yin C, Zou J, Liu M, Li S, Stawski L, Zhu B, Shi Q, Xu ZX, Li C, Goding CR, Zhou J and Cui R. TITLE Targeting MC1R depalmitoylation to prevent melanomagenesis in redheads JOURNAL Nat Commun 10 (1), 877 (2019) PUBMED 30787281 REMARK GeneRIF: By identifying APT2 as the MC1R depalmitoylation enzyme, the authors are able to demonstrate that administration of the selective APT2 inhibitor ML349 treatment efficiently increases MC1R signaling and represses UVB-induced melanomagenesis in vitro and in vivo. Publication Status: Online-Only REFERENCE 3 (bases 1 to 3115) AUTHORS Carter DW, Sood RF, Seaton ME, Muffley LA, Honari S, Hocking AM, Arbabi SA and Gibran NS. TITLE MC1R gene polymorphisms are associated with dysfunctional immune responses and wound infection after burn injury JOURNAL J. Surg. Res. 231, 448-452 (2018) PUBMED 30278967 REMARK GeneRIF: This is the first study to demonstrate a significant association between genetic polymorphisms and a nonfatal burn-induced systemic inflammatory response syndrome complication. Our findings suggest that MC1R polymorphisms contribute to dysfunctional responses to burn injury that may predict infectious and inflammatory complications. REFERENCE 4 (bases 1 to 3115) AUTHORS Bergwall L, Wallentin H, Elvin J, Liu P, Boi R, Sihlbom C, Hayes K, Wright D, Haraldsson B, Nystrom J and Buvall L. TITLE Amplification of the Melanocortin-1 Receptor in Nephrotic Syndrome Identifies a Target for Podocyte Cytoskeleton Stabilization JOURNAL Sci Rep 8 (1), 15731 (2018) PUBMED 30356069 REMARK GeneRIF: patients with nephrotic syndrome show responsiveness to MC1R receptor activation by decreasing EGFR signaling and as a consequence restore filtration barrier function by stabilizing the podocyte actin cytoskeleton. Publication Status: Online-Only REFERENCE 5 (bases 1 to 3115) AUTHORS Swope VB and Abdel-Malek ZA. TITLE MC1R: Front and Center in the Bright Side of Dark Eumelanin and DNA Repair JOURNAL Int J Mol Sci 19 (9), E2667 (2018) PUBMED 30205559 REMARK GeneRIF: This review briefly discusses the role of paracrine factors, focusing on alpha-melanocortin (alpha-melanocyte stimulating hormone; alpha-MSH), in regulating melanogenesis and the response of melanocytes to UV, and describes a chemoprevention strategy based on targeting the melanocortin 1 receptor (MC1R) by analogs of its physiological agonist alpha-MSH. [review] Review article Publication Status: Online-Only REFERENCE 6 (bases 1 to 3115) AUTHORS Valverde P, Healy E, Jackson I, Rees JL and Thody AJ. TITLE Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans JOURNAL Nat. Genet. 11 (3), 328-330 (1995) PUBMED 7581459 REFERENCE 7 (bases 1 to 3115) AUTHORS Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG and Cone RD. TITLE Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human JOURNAL Mamm. Genome 5 (8), 503-508 (1994) PUBMED 7949735 REFERENCE 8 (bases 1 to 3115) AUTHORS Gantz I, Yamada T, Tashiro T, Konda Y, Shimoto Y, Miwa H and Trent JM. TITLE Mapping of the gene encoding the melanocortin-1 (alpha-melanocyte stimulating hormone) receptor (MC1R) to human chromosome 16q24.3 by Fluorescence in situ hybridization JOURNAL Genomics 19 (2), 394-395 (1994) PUBMED 8188275 REFERENCE 9 (bases 1 to 3115) AUTHORS Chhajlani V and Wikberg JE. TITLE Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA JOURNAL FEBS Lett. 309 (3), 417-420 (1992) PUBMED 1516719 REMARK Erratum:[FEBS Lett. 1996 Jul 22;390(2):238. PMID: 8706868] REFERENCE 10 (bases 1 to 3115) AUTHORS Mountjoy KG, Robbins LS, Mortrud MT and Cone RD. TITLE The cloning of a family of genes that encode the melanocortin receptors JOURNAL Science 257 (5074), 1248-1251 (1992) PUBMED 1325670 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK024232.1, BE410897.1 and CF528726.1. This sequence is a reference standard in the RefSeqGene project. On Jun 27, 2008 this sequence version replaced NM_002386.2. Summary: 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: AK024232.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-791 AK024232.1 2-792 792-1398 BE410897.1 71-677 1399-3093 AK024232.1 1401-3095 3094-3115 CF528726.1 1-22 c FEATURES Location/Qualifiers source 1..3115 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q24.3" gene 1..3115 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /note="melanocortin 1 receptor" /db_xref="GeneID:4157" /db_xref="HGNC:HGNC:6929" /db_xref="MIM:155555" exon 1..3099 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /inference="alignment:Splign:2.1.0" misc_feature 1297..1299 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /note="upstream in-frame stop codon" CDS 1381..2334 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /note="melanotropin receptor; MC1-R; alpha melanocyte stimulating hormone receptor" /codon_start=1 /product="melanocyte-stimulating hormone receptor" /protein_id="NP_002377.4" /db_xref="CCDS:CCDS56011.1" /db_xref="GeneID:4157" /db_xref="HGNC:HGNC:6929" /db_xref="MIM:155555" /translation="MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGL FLSLGLVSLVENALVVATIAKNRNLHSPMYCFICCLALSDLLVSGSNVLETAVILLLE AGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPR ARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHA QGIARLHKRQRPVHQGFGLKGAVTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCI FKNFNLFLALIICNAIIDPLIYAFHSQELRRTLKEVLTCSW" misc_feature 1465..1467 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="N-linked (GlcNAc...) asparagine. {ECO:0000255}; propagated from UniProtKB/Swiss-Prot (Q01726.2); glycosylation site" misc_feature 1492..1569 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01726.2); transmembrane region" misc_feature 1597..1659 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01726.2); transmembrane region" misc_feature 1735..1800 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01726.2); transmembrane region" misc_feature 1870..1929 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01726.2); transmembrane region" misc_feature 1954..2013 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01726.2); transmembrane region" misc_feature 2101..2178 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01726.2); transmembrane region" misc_feature 2218..2280 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01726.2); transmembrane region" STS 1482..1781 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /standard_name="M73K" /db_xref="UniSTS:254151" STS 2312..2451 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /standard_name="SHGC-61142" /db_xref="UniSTS:15695" STS 2945..3069 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" /standard_name="RH92296" /db_xref="UniSTS:84616" regulatory 3070..3075 /regulatory_class="polyA_signal_sequence" /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" polyA_site 3099 /gene="MC1R" /gene_synonym="CMM5; MSH-R; SHEP2" ORIGIN 1 agacgcagtc ttcagcaagg aagtgctggg aacgccctgg agtgaaccca ggaagatgcc 61 tgcagtgggt gccagggccc ctctccaccg tccctgctgg gcttcggggc cacgcccgac 121 tgctgtgaac ggcctgcgga gcaccacgtg cgacggctgg aggcgagagg tctgcctttg 181 atgtggctgt tggtgcaggg cctgtggtgc cttccgcagc ggaaatggcg cgccgcccgg 241 ggagggcggg agcagcgtcc cgggtgcccc tgtgaggatg agcgacgaga tgactggagg 301 gtccctgaag acctcactag ggtgccccca gccggtccgc tcccaggaag cgacaccccc 361 acagccccag ggctgcagct gagggggtcg ccactctggc tgggcgaggc tgggcccttg 421 ggggcaggcg ccagagtggc ctcaggctct acaagatgcc tgaaaacacc aacctctcca 481 gggctcacta gcattggacg ctttcacgct ctgccctggc cggaagcccc ctcaccccgc 541 gcgatgtgca aactcctgca gggctcactc agtttccaga actttaatta ttggaaagtt 601 ctccctggtc cagcccccaa atctgccgtg aacgttgaca gctgagttgc tgctccatgc 661 gtgctttggc tgagagcaga ggggacccct gtcctccctg agctgctgac gaggggaggg 721 gtgaagggtg gggcctctgg agagggcagg tcccggggaa gctccggact cctagagggg 781 cggccaggtg ggggccctgg tgaccaggac agactgtggt gttttttaac gtaaaggaga 841 tccgcggtgt gagggacccc ctgggtcctg cacgccgcct ggtggcaggc cgggccatgg 901 tgggtgctca cgcccccggc atgtggccgc cctcagtggg aggggctctg agaacgactt 961 tttaaaacgc agagaaaagc tccattcttc ccaggacctc agcgcagccc tggcccagga 1021 aggcaggaga cagaggccag gacggtccag aggtgtcgaa atgtcctggg gacctgagca 1081 gcagccacca gggaagaggc agggagggag ctgaggacca ggcttggttg tgagaatccc 1141 tgagcccagg cggtagatgc caggaggtgt ctggactggc tgggccatgc ctgggctgac 1201 ctgtccagcc agggagaggg tgtgagggca gatctggggg tgcccagatg gaaggaggca 1261 ggcatggggg acacccaagg ccccctggca gcaccatgaa ctaagcagga cacctggagg 1321 ggaagaactg tggggacctg gaggcctcca acgactcctt cctgcttcct ggacaggact 1381 atggctgtgc agggatccca gagaagactt ctgggctccc tcaactccac ccccacagcc 1441 atcccccagc tggggctggc tgccaaccag acaggagccc ggtgcctgga ggtgtccatc 1501 tctgacgggc tcttcctcag cctggggctg gtgagcttgg tggagaacgc gctggtggtg 1561 gccaccatcg ccaagaaccg gaacctgcac tcacccatgt actgcttcat ctgctgcctg 1621 gccttgtcgg acctgctggt gagcgggagc aacgtgctgg agacggccgt catcctcctg 1681 ctggaggccg gtgcactggt ggcccgggct gcggtgctgc agcagctgga caatgtcatt 1741 gacgtgatca cctgcagctc catgctgtcc agcctctgct tcctgggcgc catcgccgtg 1801 gaccgctaca tctccatctt ctacgcactg cgctaccaca gcatcgtgac cctgccgcgg 1861 gcgcggcgag ccgttgcggc catctgggtg gccagtgtcg tcttcagcac gctcttcatc 1921 gcctactacg accacgtggc cgtcctgctg tgcctcgtgg tcttcttcct ggctatgctg 1981 gtgctcatgg ccgtgctgta cgtccacatg ctggcccggg cctgccagca cgcccagggc 2041 atcgcccggc tccacaagag gcagcgcccg gtccaccagg gctttggcct taaaggcgct 2101 gtcaccctca ccatcctgct gggcattttc ttcctctgct ggggcccctt cttcctgcat 2161 ctcacactca tcgtcctctg ccccgagcac cccacgtgcg gctgcatctt caagaacttc 2221 aacctctttc tcgccctcat catctgcaat gccatcatcg accccctcat ctacgccttc 2281 cacagccagg agctccgcag gacgctcaag gaggtgctga catgctcctg gtgagcgcgg 2341 tgcacgcggc tttaagtgtg ctgggcagag ggaggtggtg atattgtgtg gtctggttcc 2401 tgtgtgaccc tgggcagttc cttacctccc tggtccccgt ttgtcaaaga ggatggacta 2461 aatgatctct gaaagtgttg aagcgcggac ccttctgggt ccagggaggg gtccctgcaa 2521 aactccaggc aggacttctc accagcagtc gtggggaacg gaggaggaca tggggaggtt 2581 gtggggcctc aggctccggg caccaggggc caacctcagg ctcctaaaga gacattttcc 2641 gcccactcct gggacactcc gtctgctcca atgactgagc agcatccacc ccaccccatc 2701 tttgctgcca gctctcagga ccgtgccctc gtcagctggg atgtgaagtc tctgggtgga 2761 agtgtgtgcc aagagctact cccacagcag ccccaggaga aggggctttg tgaccagaaa 2821 gcttcatcca cagccttgca gcggctcctg caaaaggagg tgaaatccct gcctcaggcc 2881 aagggaccag gtttgcagga gcccccctag tggtatgggg ctgagccctc ctgagggccg 2941 gttctaaggc tcagactggg cactggggcc tcagcctgct ttcctgcagc agtcgcccaa 3001 gcagacagcc ctggcaaatg cctgactcag tgaccagtgc ctgtgagcat ggggccagga 3061 aagtctggta ataaatgtga ctcagcatca cccaccttaa aaaaaaaaaa aaaaa //