LOCUS       NM_005912               1714 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens melanocortin 4 receptor (MC4R), mRNA.
ACCESSION   NM_005912
VERSION     NM_005912.3
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 1714)
  AUTHORS   Anthofer,L., Gmach,P., Uretmen Kagiali,Z.C., Kleinau,G., Rotter,J.,
            Opitz,R., Scheerer,P., Beck-Sickinger,A.G., Wolf,P., Biebermann,H.,
            Bechmann,I., Kuhnen,P., Krude,H. and Paisdzior,S.
  TITLE     Melanocortin-4 Receptor PLC Activation Is Modulated by an
            Interaction with the Monocarboxylate Transporter 8
  JOURNAL   Int J Mol Sci 25 (14), 7565 (2024)
   PUBMED   39062808
  REMARK    GeneRIF: Melanocortin-4 Receptor PLC Activation Is Modulated by an
            Interaction with the Monocarboxylate Transporter 8.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1714)
  AUTHORS   Huang,T., Zhang,X., Li,Q., Li,X., Yao,J., Song,J., Chen,Y., Ye,L.,
            Li,C., Xiran,P. and Wen,Y.
  TITLE     The Association between Obesity Susceptibility and Polymorphisms of
            MC4R, SH2B1, and NEGR1 in Tibetans
  JOURNAL   Genet Test Mol Biomarkers 28 (7), 267-274 (2024)
   PUBMED   39034913
  REMARK    GeneRIF: The Association between Obesity Susceptibility and
            Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
REFERENCE   3  (bases 1 to 1714)
  AUTHORS   Rajcsanyi,L.S., Zheng,Y., Herpertz-Dahlmann,B., Seitz,J., de
            Zwaan,M., Herzog,W., Ehrlich,S., Zipfel,S., Giel,K., Egberts,K.,
            Burghardt,R., Focker,M., Antel,J., Fischer-Posovszky,P.,
            Hebebrand,J. and Hinney,A.
  TITLE     Unexpected identification of obesity-associated mutations in LEP
            and MC4R genes in patients with anorexia nervosa
  JOURNAL   Sci Rep 14 (1), 7067 (2024)
   PUBMED   38528040
  REMARK    GeneRIF: Unexpected identification of obesity-associated mutations
            in LEP and MC4R genes in patients with anorexia nervosa.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1714)
  AUTHORS   Mosaad,Y.M., Morzak,M., Abd El Aziz El Chennawi,F., Elsharkawy,A.A.
            and Abdelsalam,M.
  TITLE     Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313)
            gene polymorphisms in type 1 diabetes and their relation to obesity
  JOURNAL   J Pediatr Endocrinol Metab 37 (2), 110-122 (2024)
   PUBMED   38197679
  REMARK    GeneRIF: Evaluation of the role of FTO (rs9939609) and MC4R
            (rs17782313) gene polymorphisms in type 1 diabetes and their
            relation to obesity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1714)
  AUTHORS   Mohammed,I., Selvaraj,S., Ahmed,W.S., Al-Barazenji,T., Hammad,A.S.,
            Dauleh,H., Saraiva,L.R., Al-Shafai,M. and Hussain,K.
  TITLE     Functional Characterization of Novel MC4R Variants Identified in
            Two Unrelated Patients with Morbid Obesity in Qatar
  JOURNAL   Int J Mol Sci 24 (22), 16361 (2023)
   PUBMED   38003551
  REMARK    GeneRIF: Functional Characterization of Novel MC4R Variants
            Identified in Two Unrelated Patients with Morbid Obesity in Qatar.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1714)
  AUTHORS   Yang,Y.K., Ollmann,M.M., Wilson,B.D., Dickinson,C., Yamada,T.,
            Barsh,G.S. and Gantz,I.
  TITLE     Effects of recombinant agouti-signaling protein on melanocortin
            action
  JOURNAL   Mol Endocrinol 11 (3), 274-280 (1997)
   PUBMED   9058374
REFERENCE   7  (bases 1 to 1714)
  AUTHORS   Alvaro,J.D., Tatro,J.B., Quillan,J.M., Fogliano,M., Eisenhard,M.,
            Lerner,M.R., Nestler,E.J. and Duman,R.S.
  TITLE     Morphine down-regulates melanocortin-4 receptor expression in brain
            regions that mediate opiate addiction
  JOURNAL   Mol Pharmacol 50 (3), 583-591 (1996)
   PUBMED   8794897
REFERENCE   8  (bases 1 to 1714)
  AUTHORS   Mountjoy,K.G., Mortrud,M.T., Low,M.J., Simerly,R.B. and Cone,R.D.
  TITLE     Localization of the melanocortin-4 receptor (MC4-R) in
            neuroendocrine and autonomic control circuits in the brain
  JOURNAL   Mol Endocrinol 8 (10), 1298-1308 (1994)
   PUBMED   7854347
REFERENCE   9  (bases 1 to 1714)
  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   10 (bases 1 to 1714)
  AUTHORS   Gantz,I., Miwa,H., Konda,Y., Shimoto,Y., Tashiro,T., Watson,S.J.,
            DelValle,J. and Yamada,T.
  TITLE     Molecular cloning, expression, and gene localization of a fourth
            melanocortin receptor
  JOURNAL   J Biol Chem 268 (20), 15174-15179 (1993)
   PUBMED   8392067
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU310210.1, DA362673.1,
            BC101802.1 and AC091576.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 9, 2019 this sequence version replaced NM_005912.2.
            
            Summary: The protein encoded by this gene is a membrane-bound
            receptor and member of the melanocortin receptor family. The
            encoded protein interacts with adrenocorticotropic and MSH hormones
            and is mediated by G proteins. This is an intronless gene. Defects
            in this gene are a cause of autosomal dominant obesity. [provided
            by RefSeq, Jan 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803613.128716.1,
                                        SRR1660809.248284.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299766.5/ ENSP00000299766.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AU310210.1         41-47
            8-553               DA362673.1         1-546
            554-1445            BC101802.1         188-1079
            1446-1714           AC091576.11        39532-39800         c
FEATURES             Location/Qualifiers
     source          1..1714
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.32"
     gene            1..1714
                     /gene="MC4R"
                     /gene_synonym="BMIQ20"
                     /note="melanocortin 4 receptor"
                     /db_xref="GeneID:4160"
                     /db_xref="HGNC:HGNC:6932"
                     /db_xref="MIM:155541"
     exon            1..1714
                     /gene="MC4R"
                     /gene_synonym="BMIQ20"
                     /inference="alignment:Splign:2.1.0"
     CDS             427..1425
                     /gene="MC4R"
                     /gene_synonym="BMIQ20"
                     /note="MC4-R; mutant melanocortin-4 receptor"
                     /codon_start=1
                     /product="melanocortin receptor 4"
                     /protein_id="NP_005903.2"
                     /db_xref="CCDS:CCDS11976.1"
                     /db_xref="GeneID:4160"
                     /db_xref="HGNC:HGNC:6932"
                     /db_xref="MIM:155541"
                     /translation="MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQL
                     FVSPEVFVTLGVISLLENILVIVAIAKNKNLHSPMYFFICSLAVADMLVSVSNGSETI
                     VITLLNSTDTDAQSFTVNIDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNI
                     MTVKRVGIIISCIWAACTVSGILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLM
                     ARLHIKRIAVLPGTGAIRQGANMKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPY
                     CVCFMSHFNLYLILIMCNSIIDPLIYALRSQELRKTFKEIICCYPLGGLCDLSSRY"
     regulatory      1695..1700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MC4R"
                     /gene_synonym="BMIQ20"
                     /note="hexamer: ATTAAA"
     polyA_site      1714
                     /gene="MC4R"
                     /gene_synonym="BMIQ20"
                     /note="major polyA site"
ORIGIN      
        1 aacactcaaa gcaacgctca ggctggaaac agaagcttcc gagaggcagc cgatgtgagc
       61 atgtgcgcac agattcgtct cccaatggca tggcagcttc aaggaaaatt attttgaaca
      121 gacttgaatg cataagatta aagttaaagc agaagtgaga acaagaaagc aaagagcaga
      181 ctctttcaac tgagaatgaa tattttgaag cccaagattt taaagtgatg atgattagag
      241 tcgtacctaa aagagactaa aaactccatg tcaagctctg gacttgtgac atttactcac
      301 agcaggcatg gcaattttag cctcacaact ttcagacaga taaagacttg gaggaaataa
      361 ctgagacgac tccctgaccc aggaggttaa atcaattcag ggggacactg gaattctcct
      421 gccagcatgg tgaactccac ccaccgtggg atgcacactt ctctgcacct ctggaaccgc
      481 agcagttaca gactgcacag caatgccagt gagtcccttg gaaaaggcta ctctgatgga
      541 gggtgctacg agcaactttt tgtctctcct gaggtgtttg tgactctggg tgtcatcagc
      601 ttgttggaga atatcttagt gattgtggca atagccaaga acaagaatct gcattcaccc
      661 atgtactttt tcatctgcag cttggctgtg gctgatatgc tggtgagcgt ttcaaatgga
      721 tcagaaacca ttgtcatcac cctattaaac agtacagata cggatgcaca gagtttcaca
      781 gtgaatattg ataatgtcat tgactcggtg atctgtagct ccttgcttgc atccatttgc
      841 agcctgcttt caattgcagt ggacaggtac tttactatct tctatgctct ccagtaccat
      901 aacattatga cagttaagcg ggttgggatc atcataagtt gtatctgggc agcttgcacg
      961 gtttcaggca ttttgttcat catttactca gatagtagtg ctgtcatcat ctgcctcatc
     1021 accatgttct tcaccatgct ggctctcatg gcttctctct atgtccacat gttcctgatg
     1081 gccaggcttc acattaagag gattgctgtc ctccccggca ctggtgccat ccgccaaggt
     1141 gccaatatga agggagcgat taccttgacc atcctgattg gcgtctttgt tgtctgctgg
     1201 gccccattct tcctccactt aatattctac atctcttgtc ctcagaatcc atattgtgtg
     1261 tgcttcatgt ctcactttaa cttgtatctc atactgatca tgtgtaattc aatcatcgat
     1321 cctctgattt atgcactccg gagtcaagaa ctgaggaaaa ccttcaaaga gatcatctgt
     1381 tgctatcccc tgggaggcct ttgtgacttg tctagcagat attaaatggg gacagagcac
     1441 gcaatatagg aacatgcata agagactttt tcactcttac cctacctgaa tattgtactt
     1501 ctgcaacagc tttctcttcc gtgtagggta ctggttgaga atatccattg tgtaaattta
     1561 agcctatgat ttttaatgag aaaaaatgcc cagtctctgt attatttcca atgtcatgct
     1621 acttttttgg ccataaaata tgaatctatg ttataggttg taggcactgt ggatttacaa
     1681 aaagaaaagt ccttattaaa agcttaacaa tgtc
//
