LOCUS       NM_001379228             930 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens melanocortin 2 receptor accessory protein (MRAP),
            transcript variant 4, mRNA.
ACCESSION   NM_001379228 XM_006724028
VERSION     NM_001379228.1
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 930)
  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 930)
  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 930)
  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 930)
  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 930)
  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 930)
  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 930)
  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 930)
  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 930)
  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 930)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 25, 2020 this sequence version replaced XM_006724028.3.
            
            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].
            
            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 :: BC062721.1, SRR5189667.383246.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303645.10/ ENSP00000306697.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-223               AP000266.1         36903-37125
            224-323             AP000266.1         44688-44787
            324-930             AP000266.1         49732-50338
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..930
                     /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..223
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             118..636
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="isoform alpha is encoded by transcript variant 4;
                     fat cell-specific low molecular weight protein; fat
                     tissue-specific low MW protein"
                     /codon_start=1
                     /product="melanocortin-2 receptor accessory protein
                     isoform alpha"
                     /protein_id="NP_001366157.1"
                     /db_xref="CCDS:CCDS13613.1"
                     /db_xref="GeneID:56246"
                     /db_xref="HGNC:HGNC:1304"
                     /db_xref="MIM:609196"
                     /translation="MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWV
                     SLAAFVVLLFLILLYMSWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLA
                     TSQAQASSVEPGSRTGPDQPLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSE
                     PPPGDRTSQLQS"
     exon            224..323
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            324..930
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      902..907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="hexamer: AATAAA"
     regulatory      907..912
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="hexamer: AATATA"
     polyA_site      922
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="major polyA site"
     polyA_site      930
                     /gene="MRAP"
                     /gene_synonym="B27; C21orf61; FALP; FGD2; GCCD2; MRAP1"
                     /note="major polyA site"
ORIGIN      
        1 acagacacac ttggacgatt cctgcagaaa tcagtgaggc agtctcctcc caggggcttg
       61 gcgcctggct cgaggcgagg ctgccggccc ggacgctgac tgcccagtgc cacagacatg
      121 gccaacggga ccaacgcctc tgccccatac tacagctatg aatactacct ggactatctg
      181 gacctcattc ccgtggacga gaagaagctg aaagcccaca aacattccat cgtgatcgca
      241 ttctgggtga gcctggctgc cttcgtggtg ctgctcttcc tcatcttgct ctacatgtcc
      301 tggtccgcct ccccgcagat gaggaacagc cccaagcacc accaaacatg cccctggagt
      361 cacggcctca acctccacct ctgcatccag aagtgcctgc cgtgccacag ggaacccctg
      421 gcaacctcac aggctcaggc gagctcagtg gagccaggga gcagaactgg ccctgaccag
      481 ccgctacgac aggagagctc ctccaccttg cccctcgggg gtttccagac ccaccccact
      541 ctcctctggg aactgaccct caatgggggt cccctcgtca ggagcaagcc cagcgagcct
      601 ccccctggag acaggacctc tcaattgcag agctgatgtc agtaaatcgt ggccatagct
      661 gagtgaactg gtgaaatcaa gccaacctgg acacatacgt tcctcgttct tcttagaggc
      721 catttgcatg tagcagaaag ggcacctagg tcaagtgcaa ctagagcagg agcatcctat
      781 gcctttgaca aagattgcag tggcccctcg agtgcagagg tcatcccagg tgttgctgag
      841 tttattgagc acacctagcc tgcttgctta ctgcttatat ttgctcaggg aagagtagga
      901 aaataaaata tatgcaaatc aagaggaaaa
//
