LOCUS       NM_019888               1084 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens melanocortin 3 receptor (MC3R), mRNA.
ACCESSION   NM_019888
VERSION     NM_019888.3
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 1084)
  AUTHORS   Ong,S.G., Dehghan,R., Dorajoo,R., Liu,J.J., Sng,A.A., Lee,Y.S. and
            Ooi,D.S.Q.
  TITLE     Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian
            Children With Severe Obesity
  JOURNAL   J Clin Endocrinol Metab 109 (3), e1249-e1259 (2024)
   PUBMED   37820740
  REMARK    GeneRIF: Novel Melanocortin-3 and -4 Receptor Functional Variants
            in Asian Children With Severe Obesity.
REFERENCE   2  (bases 1 to 1084)
  AUTHORS   Fajardo,C.M., Cerda,A., Bortolin,R.H., de Oliveira,R.,
            Stefani,T.I.M., Dos Santos,M.A., Braga,A.A., Dorea,E.L.,
            Bernik,M.M.S., Bastos,G.M., Sampaio,M.F., Damasceno,N.R.T.,
            Verlengia,R., de Oliveira,M.R.M., Hirata,M.H. and Hirata,R.D.C.
  TITLE     Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on
            metabolic and inflammatory status and food intake in Brazilian
            adults: An exploratory pilot study
  JOURNAL   Nutr Res 119, 21-32 (2023)
   PUBMED   37716291
  REMARK    GeneRIF: Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R
            on metabolic and inflammatory status and food intake in Brazilian
            adults: An exploratory pilot study.
REFERENCE   3  (bases 1 to 1084)
  AUTHORS   Zheng,Y., Rajcsanyi,L.S., Peters,T., Dempfle,A., Wudy,S.A.,
            Hebebrand,J. and Hinney,A.
  TITLE     Evaluation of the MC3R gene pertaining to body weight and height
            regulation and puberty development
  JOURNAL   Sci Rep 13 (1), 10419 (2023)
   PUBMED   37369769
  REMARK    GeneRIF: Evaluation of the MC3R gene pertaining to body weight and
            height regulation and puberty development.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1084)
  AUTHORS   Tao,Y.X. and Segaloff,D.L.
  TITLE     Functional characterization of melanocortin-3 receptor variants
            identify a loss-of-function mutation involving an amino acid
            critical for G protein-coupled receptor activation
  JOURNAL   J Clin Endocrinol Metab 89 (8), 3936-3942 (2004)
   PUBMED   15292330
  REMARK    GeneRIF: MC3R mutation might be genetic factor that confers
            susceptibility to obesity, likely due to haploinsufficiency. We
            identify a residue that is critical for activation of G
            protein-coupled receptors.
REFERENCE   5  (bases 1 to 1084)
  AUTHORS   Schioth,H.B., Petersson,S., Muceniece,R., Szardenings,M. and
            Wikberg,J.E.
  TITLE     Deletions of the N-terminal regions of the human melanocortin
            receptors
  JOURNAL   FEBS Lett 410 (2-3), 223-228 (1997)
   PUBMED   9237634
REFERENCE   6  (bases 1 to 1084)
  AUTHORS   Schioth,H.B., Muceniece,R., Wikberg,J.E. and Szardenings,M.
  TITLE     Alternative translation initiation codon for the human melanocortin
            MC3 receptor does not affect the ligand binding
  JOURNAL   Eur J Pharmacol 314 (3), 381-384 (1996)
   PUBMED   8957262
REFERENCE   7  (bases 1 to 1084)
  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 1084)
  AUTHORS   Konda,Y., Gantz,I., DelValle,J., Shimoto,Y., Miwa,H. and Yamada,T.
  TITLE     Interaction of dual intracellular signaling pathways activated by
            the melanocortin-3 receptor
  JOURNAL   J Biol Chem 269 (18), 13162-13166 (1994)
   PUBMED   8175743
REFERENCE   9  (bases 1 to 1084)
  AUTHORS   Gantz,I., Tashiro,T., Barcroft,C., Konda,Y., Shimoto,Y., Miwa,H.,
            Glover,T., Munzert,G. and Yamada,T.
  TITLE     Localization of the genes encoding the melanocortin-2
            (adrenocorticotropic hormone) and melanocortin-3 receptors to
            chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ
            hybridization
  JOURNAL   Genomics 18 (1), 166-167 (1993)
   PUBMED   8276410
REFERENCE   10 (bases 1 to 1084)
  AUTHORS   Gantz,I., Konda,Y., Tashiro,T., Shimoto,Y., Miwa,H., Munzert,G.,
            Watson,S.J., DelValle,J. and Yamada,T.
  TITLE     Molecular cloning of a novel melanocortin receptor
  JOURNAL   J Biol Chem 268 (11), 8246-8250 (1993)
   PUBMED   8463333
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069105.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 22, 2008 this sequence version replaced NM_019888.2.
            
            Summary: This gene encodes a G-protein-coupled receptor for
            melanocyte-stimulating hormone and adrenocorticotropic hormone that
            is expressed in tissues other than the adrenal cortex and
            melanocytes. This gene maps to the same region as the locus for
            benign neonatal epilepsy. Mice deficient for this gene have
            increased fat mass despite decreased food intake, suggesting a role
            for this gene product in the regulation of energy homeostasis.
            Mutations in this gene are associated with a susceptibility to
            obesity in humans. [provided by RefSeq, Jul 2008].
            
            Sequence Note: A downstream start codon is selected for this RefSeq
            based on conservation with homologs and for consistency with other
            family members, including the human melanocortin 4 and melanocortin
            5 receptors. The use of an alternative upstream start codon, which
            is specific to primate species, would increase the protein length
            from 323 aa to 360 aa. This longer protein is referred to in the
            literature, including PMIDs 15292330 and 8463333.
            
            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 :: BC069105.1, BC069599.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
                                                upstream AUG
            MANE Ensembl match               :: ENST00000243911.2/
                                                ENSP00000243911.2
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1084              BC069105.1         1-1084
FEATURES             Location/Qualifiers
     source          1..1084
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.2"
     gene            1..1084
                     /gene="MC3R"
                     /gene_synonym="BMIQ9; MC3; MC3-R; OB20; OQTL"
                     /note="melanocortin 3 receptor"
                     /db_xref="GeneID:4159"
                     /db_xref="HGNC:HGNC:6931"
                     /db_xref="MIM:155540"
     exon            1..1084
                     /gene="MC3R"
                     /gene_synonym="BMIQ9; MC3; MC3-R; OB20; OQTL"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..1084
                     /gene="MC3R"
                     /gene_synonym="BMIQ9; MC3; MC3-R; OB20; OQTL"
                     /note="obesity quantitative trait locus"
                     /codon_start=1
                     /product="melanocortin receptor 3"
                     /protein_id="NP_063941.3"
                     /db_xref="CCDS:CCDS13449.2"
                     /db_xref="GeneID:4159"
                     /db_xref="HGNC:HGNC:6931"
                     /db_xref="MIM:155540"
                     /translation="MNASCCLPSVQPTLPNGSEHLQAPFFSNQSSSAFCEQVFIKPEV
                     FLSLGIVSLLENILVILAVVRNGNLHSPMYFFLCSLAVADMLVSVSNALETIMIAIVH
                     SDYLTFEDQFIQHMDNIFDSMICISLVASICNLLAIAVDRYVTIFYALRYHSIMTVRK
                     ALTLIVAIWVCCGVCGVVFIVYSESKMVIVCLITMFFAMMLLMGTLYVHMFLFARLHV
                     KRIAALPPADGVAPQQHSCMKGAVTITILLGVFIFCWAPFFLHLVLIITCPTNPYCIC
                     YTAHFNTYLVLIMCNSVIDPLIYAFRSLELRNTFREILCGCNGMNLG"
ORIGIN      
        1 aatgagcatc caaaagacgt atctggaggg agattttgtc tttcctgtga gcagcagcag
       61 cttcctacgg accctgctgg agccccagct cggatcagcc cttctgacag caatgaatgc
      121 ttcgtgctgc ctgccctctg ttcagccaac actgcctaat ggctcggagc acctccaagc
      181 ccctttcttc agcaaccaga gcagcagcgc cttctgtgag caggtcttca tcaagcccga
      241 ggttttcctg tctctgggca tcgtcagtct gctggaaaac atcctggtta tcctggccgt
      301 ggtcaggaac ggcaacctgc actccccgat gtacttcttt ctctgcagcc tggcggtggc
      361 cgacatgctg gtaagtgtgt ccaatgccct ggagaccatc atgatcgcca tcgtccacag
      421 cgactacctg accttcgagg accagtttat ccagcacatg gacaacatct tcgactccat
      481 gatctgcatc tccctggtgg cctccatctg caacctcctg gccatcgccg tcgacaggta
      541 cgtcaccatc ttttacgcgc tccgctacca cagcatcatg accgtgagga aggccctcac
      601 cttgatcgtg gccatctggg tctgctgcgg cgtctgtggc gtggtgttca tcgtctactc
      661 ggagagcaaa atggtcattg tgtgcctcat caccatgttc ttcgccatga tgctcctcat
      721 gggcaccctc tacgtgcaca tgttcctctt tgcgcggctg cacgtcaagc gcatagcagc
      781 actgccacct gccgacgggg tggccccaca gcaacactca tgcatgaagg gggcagtcac
      841 catcaccatt ctcctgggcg tgttcatctt ctgctgggcc cccttcttcc tccacctggt
      901 cctcatcatc acctgcccca ccaaccccta ctgcatctgc tacactgccc acttcaacac
      961 ctacctggtc ctcatcatgt gcaactccgt catcgaccca ctcatctacg ctttccggag
     1021 cctggaattg cgcaacacct ttagggagat tctctgtggc tgcaacggca tgaacttggg
     1081 atag
//
