LOCUS       NM_001285394             884 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens melanocortin 2 receptor accessory protein (MRAP),
            transcript variant 3, mRNA.
ACCESSION   NM_001285394
VERSION     NM_001285394.2
KEYWORDS    RefSeq.
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 884)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 884)
  AUTHORS   Zhang,X., Saarinen,A.M., Campbell,L.E., De Filippis,E.A. and Liu,J.
  TITLE     Regulation of Lipolytic Response and Energy Balance by Melanocortin
            2 Receptor Accessory Protein (MRAP) in Adipocytes
  JOURNAL   Diabetes 67 (2), 222-234 (2018)
   PUBMED   29217655
  REMARK    GeneRIF: Data (including data from studies in transgenic mice)
            suggest that MRAP plays critical role in (1) regulation of
            lipolysis in adipose tissue, (2) regulation of enzyme expression in
            adipose tissue, and (3) whole-body energy balance.
REFERENCE   3  (bases 1 to 884)
  AUTHORS   Mehde,A.A., Mehdi,W.A., Yusof,F., Raus,R.A., Abidin,Z.A.Z.,
            Ghazali,H. and Rahman,A.A.
  TITLE     Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis
            patients
  JOURNAL   Int J Biol Macromol 105 (Pt 1), 1324-1327 (2017)
   PUBMED   28760704
  REMARK    GeneRIF: allele of the 5 insertion/deletion polymorphism in the
            Alpha-2-MRAP gene is related with an increase of oxidative stress
            in nephrolithiasis patients
REFERENCE   4  (bases 1 to 884)
  AUTHORS   Sokolina,K., Kittanakom,S., Snider,J., Kotlyar,M., Maurice,P.,
            Gandia,J., Benleulmi-Chaachoua,A., Tadagaki,K., Oishi,A., Wong,V.,
            Malty,R.H., Deineko,V., Aoki,H., Amin,S., Yao,Z., Morato,X.,
            Otasek,D., Kobayashi,H., Menendez,J., Auerbach,D., Angers,S.,
            Przulj,N., Bouvier,M., Babu,M., Ciruela,F., Jockers,R., Jurisica,I.
            and Stagljar,I.
  TITLE     Systematic protein-protein interaction mapping for clinically
            relevant human GPCRs
  JOURNAL   Mol Syst Biol 13 (3), 918 (2017)
   PUBMED   28298427
  REMARK    Erratum:[Mol Syst Biol. 2025 Feb;21(2):208-209. doi:
            10.1038/s44320-024-00080-3.. PMID: 39762653]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 884)
  AUTHORS   Webb,T.R., Chan,L., Cooray,S.N., Cheetham,M.E., Chapple,J.P. and
            Clark,A.J.
  TITLE     Distinct melanocortin 2 receptor accessory protein domains are
            required for melanocortin 2 receptor interaction and promotion of
            receptor trafficking
  JOURNAL   Endocrinology 150 (2), 720-726 (2009)
   PUBMED   18818285
  REMARK    GeneRIF: The transmembrane domain of MRAP is the MC2R interaction
            domain and a conserved N-terminal tyrosine-rich domain of MRAP is
            required for trafficking MC2R to the cell surface.
REFERENCE   6  (bases 1 to 884)
  AUTHORS   Sebag,J.A. and Hinkle,P.M.
  TITLE     Melanocortin-2 receptor accessory protein MRAP forms antiparallel
            homodimers
  JOURNAL   Proc Natl Acad Sci U S A 104 (51), 20244-20249 (2007)
   PUBMED   18077336
  REMARK    GeneRIF: MRAP is the first eukaryotic membrane protein identified
            with an antiparallel homodimeric structure.
REFERENCE   7  (bases 1 to 884)
  AUTHORS   Rumie,H., Metherell,L.A., Clark,A.J., Beauloye,V. and Maes,M.
  TITLE     Clinical and biological phenotype of a patient with familial
            glucocorticoid deficiency type 2 caused by a mutation of
            melanocortin 2 receptor accessory protein
  JOURNAL   Eur J Endocrinol 157 (4), 539-542 (2007)
   PUBMED   17893271
  REMARK    GeneRIF: Familial glucocorticoid deficiency type 2, confirmed by a
            mutation of the MRAP gene.
REFERENCE   8  (bases 1 to 884)
  AUTHORS   Roy,S., Rached,M. and Gallo-Payet,N.
  TITLE     Differential regulation of the human adrenocorticotropin receptor
            [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein
            isoforms alpha and beta in isogenic human embryonic kidney 293
            cells
  JOURNAL   Mol Endocrinol 21 (7), 1656-1669 (2007)
   PUBMED   17456795
  REMARK    GeneRIF: MC2R-green fluorescent protein fusion transfected with
            either MRAPalpha or MRAPbeta was impaired both in cell membrane
            localization and signaling.
REFERENCE   9  (bases 1 to 884)
  AUTHORS   Metherell,L.A., Chapple,J.P., Cooray,S., David,A., Becker,C.,
            Ruschendorf,F., Naville,D., Begeot,M., Khoo,B., Nurnberg,P.,
            Huebner,A., Cheetham,M.E. and Clark,A.J.
  TITLE     Mutations in MRAP, encoding a new interacting partner of the ACTH
            receptor, cause familial glucocorticoid deficiency type 2
  JOURNAL   Nat Genet 37 (2), 166-170 (2005)
   PUBMED   15654338
  REMARK    GeneRIF: We identified mutations in a protein, now known as
            melanocortin 2 receptor accessory protein (MRAP). We show that MRAP
            interacts with MC2R and may have a role in the trafficking of MC2R
            from the endoplasmic reticulum to the cell surface.
REFERENCE   10 (bases 1 to 884)
  AUTHORS   Xu,A., Choi,K.L., Wang,Y., Permana,P.A., Xu,L.Y., Bogardus,C. and
            Cooper,G.J.
  TITLE     Identification of novel putative membrane proteins selectively
            expressed during adipose conversion of 3T3-L1 cells
  JOURNAL   Biochem Biophys Res Commun 293 (4), 1161-1167 (2002)
   PUBMED   12054497
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000266.1.
            
            On Apr 23, 2019 this sequence version replaced NM_001285394.1.
            
            Summary: This gene encodes a melanocortin receptor-interacting
            protein. The encoded protein regulates trafficking and function of
            the melanocortin 2 receptor in the adrenal gland. The encoded
            protein can also modulate signaling of other melanocortin
            receptors. Mutations in this gene have been associated with
            familial glucocorticoid deficiency type 2. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Dec
            2009].
            
            Transcript Variant: This variant (3) lacks a coding exon compared
            to variant 1. The resulting isoform (c) has a shorter N-terminus
            compared to isoform alpha.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 exon combination :: AF454916.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AP000266.1         29861-29897
            38-177              AP000266.1         31041-31180
            178-277             AP000266.1         44688-44787
            278-884             AP000266.1         49732-50338
FEATURES             Location/Qualifiers
     source          1..884
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..884
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="melanocortin 2 receptor accessory protein"
                     /db_xref="GeneID:56246"
                     /db_xref="HGNC:HGNC:1304"
                     /db_xref="MIM:609196"
     exon            1..37
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            38..177
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            178..277
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             249..590
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="isoform c is encoded by transcript variant 3; fat
                     cell-specific low molecular weight protein; fat
                     tissue-specific low MW protein"
                     /codon_start=1
                     /product="melanocortin-2 receptor accessory protein
                     isoform c"
                     /protein_id="NP_001272323.1"
                     /db_xref="GeneID:56246"
                     /db_xref="HGNC:HGNC:1304"
                     /db_xref="MIM:609196"
                     /translation="MSWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLAT
                     SQAQASSVEPGSRTGPDQPLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSEP
                     PPGDRTSQLQS"
     exon            278..884
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      856..861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="hexamer: AATAAA"
     regulatory      861..866
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="hexamer: AATATA"
     polyA_site      876
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="major polyA site"
     polyA_site      884
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="major polyA site"
ORIGIN      
        1 ggataatggg gaggctatgc aggtgtgtgg gctggaggga ctttgcagat gtgattaagg
       61 attgtgagat ggaaaaatta tccttgatta cctgcacgga cccagtataa tcacaactgt
      121 ccttataaga agaggagctt tggaagaaga gagagttgac tacggaagag ggaaaagatt
      181 ccatcgtgat cgcattctgg gtgagcctgg ctgccttcgt ggtgctgctc ttcctcatct
      241 tgctctacat gtcctggtcc gcctccccgc agatgaggaa cagccccaag caccaccaaa
      301 catgcccctg gagtcacggc ctcaacctcc acctctgcat ccagaagtgc ctgccgtgcc
      361 acagggaacc cctggcaacc tcacaggctc aggcgagctc agtggagcca gggagcagaa
      421 ctggccctga ccagccgcta cgacaggaga gctcctccac cttgcccctc gggggtttcc
      481 agacccaccc cactctcctc tgggaactga ccctcaatgg gggtcccctc gtcaggagca
      541 agcccagcga gcctccccct ggagacagga cctctcaatt gcagagctga tgtcagtaaa
      601 tcgtggccat agctgagtga actggtgaaa tcaagccaac ctggacacat acgttcctcg
      661 ttcttcttag aggccatttg catgtagcag aaagggcacc taggtcaagt gcaactagag
      721 caggagcatc ctatgccttt gacaaagatt gcagtggccc ctcgagtgca gaggtcatcc
      781 caggtgttgc tgagtttatt gagcacacct agcctgcttg cttactgctt atatttgctc
      841 agggaagagt aggaaaataa aatatatgca aatcaagagg aaaa
//
