LOCUS       NM_002386               2111 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens melanocortin 1 receptor (MC1R), mRNA.
ACCESSION   NM_002386
VERSION     NM_002386.4
KEYWORDS    RefSeq; MANE 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 2111)
  AUTHORS   Cavatao,F.G., Pinto,E.S.M., Krause,M.J., Alho,C.S. and Dorn,M.
  TITLE     Molecular Basis of MC1R Activation: Mutation-Induced Alterations in
            Structural Dynamics
  JOURNAL   Proteins 92 (11), 1297-1307 (2024)
   PUBMED   38923677
  REMARK    GeneRIF: Molecular Basis of MC1R Activation: Mutation-Induced
            Alterations in Structural Dynamics.
REFERENCE   2  (bases 1 to 2111)
  AUTHORS   Castejon-Grinan,M., Cerdido,S., Sanchez-Beltran,J., Lambertos,A.,
            Abrisqueta,M., Herraiz,C., Jimenez-Cervantes,C. and
            Garcia-Borron,J.C.
  TITLE     Melanoma-associated melanocortin 1 receptor variants confer redox
            signaling-dependent protection against oxidative DNA damage
  JOURNAL   Redox Biol 72, 103135 (2024)
   PUBMED   38565069
  REMARK    GeneRIF: Melanoma-associated melanocortin 1 receptor variants
            confer redox signaling-dependent protection against oxidative DNA
            damage.
REFERENCE   3  (bases 1 to 2111)
  AUTHORS   Cerdido,S., Sanchez-Beltran,J., Lambertos,A., Abrisqueta,M.,
            Padilla,L., Herraiz,C., Olivares,C., Jimenez-Cervantes,C. and
            Garcia-Borron,J.C.
  TITLE     A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1
            Receptor Signaling with Emphasis on Protection against Oxidative
            Damage to DNA
  JOURNAL   Int J Mol Sci 24 (18), 14381 (2023)
   PUBMED   37762683
  REMARK    GeneRIF: A Side-by-Side Comparison of Wildtype and Variant
            Melanocortin 1 Receptor Signaling with Emphasis on Protection
            against Oxidative Damage to DNA.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2111)
  AUTHORS   Cui,Y., Miao,Y., Cao,L., Guo,L., Cui,Y., Yan,C., Zeng,Z., Xu,M. and
            Han,T.
  TITLE     Activation of melanocortin-1 receptor signaling in melanoma cells
            impairs T cell infiltration to dampen antitumor immunity
  JOURNAL   Nat Commun 14 (1), 5740 (2023)
   PUBMED   37714844
  REMARK    GeneRIF: Activation of melanocortin-1 receptor signaling in
            melanoma cells impairs T cell infiltration to dampen antitumor
            immunity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2111)
  AUTHORS   Dall'Olmo,L., Papa,N., Surdo,N.C., Marigo,I. and Mocellin,S.
  TITLE     Alpha-melanocyte stimulating hormone (alpha-MSH): biology, clinical
            relevance and implication in melanoma
  JOURNAL   J Transl Med 21 (1), 562 (2023)
   PUBMED   37608347
  REMARK    GeneRIF: Alpha-melanocyte stimulating hormone (alpha-MSH): biology,
            clinical relevance and implication in melanoma.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2111)
  AUTHORS   Valverde,P., Healy,E., Jackson,I., Rees,J.L. and Thody,A.J.
  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 2111)
  AUTHORS   Magenis,R.E., Smith,L., Nadeau,J.H., Johnson,K.R., Mountjoy,K.G.
            and Cone,R.D.
  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 2111)
  AUTHORS   Gantz,I., Yamada,T., Tashiro,T., Konda,Y., Shimoto,Y., Miwa,H. and
            Trent,J.M.
  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 2111)
  AUTHORS   Chhajlani,V. and Wikberg,J.E.
  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. doi:
            10.1016/0014-5793(96)81375-5.. PMID: 8706868]
REFERENCE   10 (bases 1 to 2111)
  AUTHORS   Mountjoy,K.G., Robbins,L.S., Mortrud,M.T. and Cone,R.D.
  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 BE410897.1, AK024232.1 and
            CF528726.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 19, 2019 this sequence version replaced NM_002386.3.
            
            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 :: AK225902.1, BC007856.2 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000555147.2/ ENSP00000451605.1
            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
            1-415               BE410897.1         263-677
            416-2110            AK024232.1         1401-3095
            2111-2111           CF528726.1         22-22               c
FEATURES             Location/Qualifiers
     source          1..2111
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2111
                     /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..2111
                     /gene="MC1R"
                     /gene_synonym="CMM5; MSH-R; SHEP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             398..1351
                     /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"
     regulatory      2087..2092
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MC1R"
                     /gene_synonym="CMM5; MSH-R; SHEP2"
                     /note="hexamer: AATAAA"
     polyA_site      2111
                     /gene="MC1R"
                     /gene_synonym="CMM5; MSH-R; SHEP2"
                     /note="major polyA site"
ORIGIN      
        1 attcttccca ggacctcagc gcagccctgg cccaggaagg caggagacag aggccaggac
       61 ggtccagagg tgtcgaaatg tcctggggac ctgagcagca gccaccaggg aagaggcagg
      121 gagggagctg aggaccaggc ttggttgtga gaatccctga gcccaggcgg tagatgccag
      181 gaggtgtctg gactggctgg gccatgcctg ggctgacctg tccagccagg gagagggtgt
      241 gagggcagat ctgggggtgc ccagatggaa ggaggcaggc atgggggaca cccaaggccc
      301 cctggcagca ccatgaacta agcaggacac ctggagggga agaactgtgg ggacctggag
      361 gcctccaacg actccttcct gcttcctgga caggactatg gctgtgcagg gatcccagag
      421 aagacttctg ggctccctca actccacccc cacagccatc ccccagctgg ggctggctgc
      481 caaccagaca ggagcccggt gcctggaggt gtccatctct gacgggctct tcctcagcct
      541 ggggctggtg agcttggtgg agaacgcgct ggtggtggcc accatcgcca agaaccggaa
      601 cctgcactca cccatgtact gcttcatctg ctgcctggcc ttgtcggacc tgctggtgag
      661 cgggagcaac gtgctggaga cggccgtcat cctcctgctg gaggccggtg cactggtggc
      721 ccgggctgcg gtgctgcagc agctggacaa tgtcattgac gtgatcacct gcagctccat
      781 gctgtccagc ctctgcttcc tgggcgccat cgccgtggac cgctacatct ccatcttcta
      841 cgcactgcgc taccacagca tcgtgaccct gccgcgggcg cggcgagccg ttgcggccat
      901 ctgggtggcc agtgtcgtct tcagcacgct cttcatcgcc tactacgacc acgtggccgt
      961 cctgctgtgc ctcgtggtct tcttcctggc tatgctggtg ctcatggccg tgctgtacgt
     1021 ccacatgctg gcccgggcct gccagcacgc ccagggcatc gcccggctcc acaagaggca
     1081 gcgcccggtc caccagggct ttggccttaa aggcgctgtc accctcacca tcctgctggg
     1141 cattttcttc ctctgctggg gccccttctt cctgcatctc acactcatcg tcctctgccc
     1201 cgagcacccc acgtgcggct gcatcttcaa gaacttcaac ctctttctcg ccctcatcat
     1261 ctgcaatgcc atcatcgacc ccctcatcta cgccttccac agccaggagc tccgcaggac
     1321 gctcaaggag gtgctgacat gctcctggtg agcgcggtgc acgcggcttt aagtgtgctg
     1381 ggcagaggga ggtggtgata ttgtgtggtc tggttcctgt gtgaccctgg gcagttcctt
     1441 acctccctgg tccccgtttg tcaaagagga tggactaaat gatctctgaa agtgttgaag
     1501 cgcggaccct tctgggtcca gggaggggtc cctgcaaaac tccaggcagg acttctcacc
     1561 agcagtcgtg gggaacggag gaggacatgg ggaggttgtg gggcctcagg ctccgggcac
     1621 caggggccaa cctcaggctc ctaaagagac attttccgcc cactcctggg acactccgtc
     1681 tgctccaatg actgagcagc atccacccca ccccatcttt gctgccagct ctcaggaccg
     1741 tgccctcgtc agctgggatg tgaagtctct gggtggaagt gtgtgccaag agctactccc
     1801 acagcagccc caggagaagg ggctttgtga ccagaaagct tcatccacag ccttgcagcg
     1861 gctcctgcaa aaggaggtga aatccctgcc tcaggccaag ggaccaggtt tgcaggagcc
     1921 cccctagtgg tatggggctg agccctcctg agggccggtt ctaaggctca gactgggcac
     1981 tggggcctca gcctgctttc ctgcagcagt cgcccaagca gacagccctg gcaaatgcct
     2041 gactcagtga ccagtgcctg tgagcatggg gccaggaaag tctggtaata aatgtgactc
     2101 agcatcaccc a
//
