LOCUS       NM_018000               3148 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens melanoregulin (MREG), transcript variant 2, mRNA.
ACCESSION   NM_018000
VERSION     NM_018000.3
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 3148)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3148)
  AUTHORS   Meng,X., Dong,Y., Yu,X., Wang,D., Wang,S., Chen,S. and Pang,S.
  TITLE     MREG suppresses thyroid cancer cell invasion and proliferation by
            inhibiting Akt-mTOR signaling
  JOURNAL   Biochem Biophys Res Commun 491 (1), 72-78 (2017)
   PUBMED   28698135
  REMARK    GeneRIF: Taken together, MREG regulates thyroid cancer cell
            invasion and proliferation through PI3K/Akt-mTOR signaling pathway.
            MREG may serve as a promising therapeutic strategy for thyroid
            cancer.
REFERENCE   3  (bases 1 to 3148)
  AUTHORS   Frost,L.S., Lopes,V.S., Bragin,A., Reyes-Reveles,J., Brancato,J.,
            Cohen,A., Mitchell,C.H., Williams,D.S. and Boesze-Battaglia,K.
  TITLE     The Contribution of Melanoregulin to Microtubule-Associated Protein
            1 Light Chain 3 (LC3) Associated Phagocytosis in Retinal Pigment
            Epithelium
  JOURNAL   Mol Neurobiol 52 (3), 1135-1151 (2015)
   PUBMED   25301234
  REMARK    GeneRIF: MREG-dependent processing links both autophagic and
            phagocytic processes in LC3-associated phagocytosis. MREG
            participates in coordinating the association of phagosomes with LC3
            for content degradation with the MREG loss leading to phagosome
            accumulation.
REFERENCE   4  (bases 1 to 3148)
  AUTHORS   Evans,D.M., Zhu,G., Dy,V., Heath,A.C., Madden,P.A., Kemp,J.P.,
            McMahon,G., St Pourcain,B., Timpson,N.J., Golding,J., Lawlor,D.A.,
            Steer,C., Montgomery,G.W., Martin,N.G., Smith,G.D. and
            Whitfield,J.B.
  TITLE     Genome-wide association study identifies loci affecting blood
            copper, selenium and zinc
  JOURNAL   Hum Mol Genet 22 (19), 3998-4006 (2013)
   PUBMED   23720494
REFERENCE   5  (bases 1 to 3148)
  AUTHORS   Ohbayashi,N., Maruta,Y., Ishida,M. and Fukuda,M.
  TITLE     Melanoregulin regulates retrograde melanosome transport through
            interaction with the RILP-p150Glued complex in melanocytes
  JOURNAL   J Cell Sci 125 (Pt 6), 1508-1518 (2012)
   PUBMED   22275436
REFERENCE   6  (bases 1 to 3148)
  AUTHORS   Hersh,C.P., Pillai,S.G., Zhu,G., Lomas,D.A., Bakke,P., Gulsvik,A.,
            DeMeo,D.L., Klanderman,B.J., Lazarus,R., Litonjua,A.A., Sparrow,D.,
            Reilly,J.J., Agusti,A., Calverley,P.M., Donner,C.F., Levy,R.D.,
            Make,B.J., Pare,P.D., Rennard,S.I., Vestbo,J., Wouters,E.F.,
            Scholand,M.B., Coon,H., Hoidal,J. and Silverman,E.K.
  TITLE     Multistudy fine mapping of chromosome 2q identifies XRCC5 as a
            chronic obstructive pulmonary disease susceptibility gene
  JOURNAL   Am J Respir Crit Care Med 182 (5), 605-613 (2010)
   PUBMED   20463177
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3148)
  AUTHORS   Damek-Poprawa,M., Diemer,T., Lopes,V.S., Lillo,C., Harper,D.C.,
            Marks,M.S., Wu,Y., Sparrow,J.R., Rachel,R.A., Williams,D.S. and
            Boesze-Battaglia,K.
  TITLE     Melanoregulin (MREG) modulates lysosome function in pigment
            epithelial cells
  JOURNAL   J Biol Chem 284 (16), 10877-10889 (2009)
   PUBMED   19240024
REFERENCE   8  (bases 1 to 3148)
  AUTHORS   O'Sullivan,T.N., Wu,X.S., Rachel,R.A., Huang,J.D., Swing,D.A.,
            Matesic,L.E., Hammer,J.A. 3rd, Copeland,N.G. and Jenkins,N.A.
  TITLE     dsu functions in a MYO5A-independent pathway to suppress the coat
            color of dilute mice
  JOURNAL   Proc Natl Acad Sci U S A 101 (48), 16831-16836 (2004)
   PUBMED   15550542
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CX781801.1, AC093382.3 and CA843296.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018000.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.396674.1,
                                           SRR1163657.464487.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263268.11/ ENSP00000263268.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-760               CX781801.1         68-827
            761-2953            AC093382.3         53103-55295         c
            2954-3141           CA843296.1         1-188               c
            3142-3148           AC093382.3         52908-52914         c
FEATURES             Location/Qualifiers
     source          1..3148
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..3148
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /note="melanoregulin"
                     /db_xref="GeneID:55686"
                     /db_xref="HGNC:HGNC:25478"
                     /db_xref="MIM:609207"
     exon            1..319
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             225..869
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     whn-dependent transcript 2; dilute suppressor protein
                     homolog"
                     /codon_start=1
                     /product="melanoregulin isoform 2"
                     /protein_id="NP_060470.2"
                     /db_xref="CCDS:CCDS46513.1"
                     /db_xref="GeneID:55686"
                     /db_xref="HGNC:HGNC:25478"
                     /db_xref="MIM:609207"
                     /translation="MGLRDWLRTVCCCCGCECLEERALPEKEPLVSDNNPYSSFGATL
                     VRDDEKNLWSMPHDVSHTEADDDRTLYNLIVIRNQQAKDSEEWQKLNYDIHTLRQVRR
                     EVRNRWKCILEDLGFQKEADSLLSVTKLSTISDSKNTRKAREMLLKLAEETNIFPTSW
                     ELSERYLFVVDRLIALDAAEEFFKLARRTYPKKPGVPCLADGQKELHYLPFPSP"
     exon            320..479
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /inference="alignment:Splign:2.1.0"
     exon            480..570
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /inference="alignment:Splign:2.1.0"
     exon            571..734
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /inference="alignment:Splign:2.1.0"
     exon            735..3148
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2919..2924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /note="hexamer: AATAAA"
     polyA_site      2929
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /note="major polyA site"
     regulatory      3083..3088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /note="hexamer: AATACA"
     regulatory      3121..3126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
                     /note="hexamer: ATTAAA"
     polyA_site      3121
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
     polyA_site      3148
                     /gene="MREG"
                     /gene_synonym="DSU; WDT2"
ORIGIN      
        1 aaaactcacg ccccaaacaa aacgcaagga gaggagggcg cgcggcctgc agccctcgcc
       61 cgcgtccccg gccgcggcgt gatgcgcgcg gaccagcccg cgacgcccgg gctgccgctg
      121 tccccgcacc tggacgctgg cgcggtggcc gcgccccagc ctcgatcgct cgccgcggcg
      181 actcggcccc aggcttccgg cgccggtggg ggccctcgct ctccatgggg ctgagggact
      241 ggctgagaac cgtgtgctgc tgctgcgggt gcgagtgctt ggaggagcgc gccctgcctg
      301 agaaggagcc cctcgtcagt gataacaatc catattcctc atttggagca actctggtga
      361 gggatgatga gaagaattta tggagtatgc cccatgatgt gtcccacaca gaggcagacg
      421 acgacagaac cctgtacaat ttgatagtca ttcgtaatca gcaggccaaa gactcagagg
      481 agtggcagaa gctcaactat gatatccata ccctgcggca ggttcgaagg gaagtaagaa
      541 acagatggaa gtgcatctta gaagatttag gttttcaaaa ggaagctgac tctttgttgt
      601 cagtgactaa actcagcacc atcagtgatt ctaaaaacac aaggaaagct cgagagatgt
      661 tgttaaaact ggctgaagaa accaatattt tcccaacaag ttgggagctc tcagagagat
      721 atctctttgt tgtggaccgt ctcattgcac ttgatgctgc agaagagttc tttaagcttg
      781 ctcgtcgaac ttaccccaag aagcctgggg ttccatgcct ggcagatggc cagaaagaac
      841 tgcactacct tccgtttcca agtccctaaa ggagaggctc aggggcagaa tgggaattct
      901 tccatgagga ctcagcagtc aaccaaagtt ggacaattac atgtagaaga gagtgagcaa
      961 atagagtttg cttagtgaaa aatgatactg aattctacat aaatgtaaag tctttaatct
     1021 gaggaccctg ccccatgaat tgtgcaggct gcattgaaac gccttggtga tctcatattt
     1081 aggaagaaag ttaaagagtt ggtcagatgg atagttcata atgggtggtt ccattctgag
     1141 agcccattgc cccagctttg gttttagttg tgtcataatc tctgatcatt aatcctactg
     1201 actgagtgga ctatttcagt taataaaaca atatgattaa tagagagagc tgtcattgag
     1261 tcccaaaatg gattgccagt tttaaaataa ttattataaa atgtatgcta accccaaaat
     1321 aatactaggc atgaggtgac ctctctgatt tggtcacctt gtagaacctt ggagggtgtc
     1381 agggcatctc tttgagtatc agttatgatt attcagaagt atagatgtat caaatgatag
     1441 aaatgacaag gaatggctgg gcgtggtggc tcatgcctgt aatcccagca ctttgggagg
     1501 ccaaggtggg tggatcatga ggtcaggagt tcaagaccag cctgaccaac atggtgaaac
     1561 cctgtctcta ctaaaaatac aaaaattagc caggtgtgat ggcacgcgct tgtaatccca
     1621 gctacccagg aggctgaggt aggagaatcg cttgagcccg ggcagtggag gttacagtga
     1681 gccgagattg caccattgca ctccagcctg ggcgacagag cgagactccg tctcaaaaaa
     1741 aaaaaaaaaa aaaaaaaaaa agagttatgt attcatgtgt tgtacttgca ttttaaattc
     1801 ccaacattat tgatatctgg ttctctcatc tttgtatatt gtccatttct attccaaaag
     1861 cctttcgctc tttttttttt tttttttttt tttgatggac tctcgctctg tcgcccaggc
     1921 tggagtacag tggtgcgatc tcggctcact gcaacctccg ccttccggtt tcaagtgatt
     1981 cccctgcctc agcctctgga gtagctggaa ctacaggcgc gtgccaccac acctggctaa
     2041 ttttttgtat ttttagtaga gacggggttt caccatgtta gccacgatgg tctcgatctc
     2101 ctgacctcgt catccgcctg ccccagcctc ccaaagtgct gggattacag gcgtgagtca
     2161 ccgcgcccgg ccaagccctt ggcattttat ctggaatagc atctgtaaac tgaagtgttt
     2221 gacctctgtt ttcttctctc ctctttcatc tgtttctgat tcgttggctg gcagctgcac
     2281 ctgtgggggg acctctcatg cagacttgca catatgcagg gagtattgca ctgaagatct
     2341 ttgctggacc ttcttctctt cagaagataa ttttcaaaag ggagcaatgc tgtgaatgca
     2401 gcttgcttct ctctacagat tgagaagtcc agcttcaaaa gttacttgcc acttaagcaa
     2461 ggaacttgtc aagagatcat ggttcatgtt actgaaaaga ctttaaggat ttgtaaggtt
     2521 aatccataga ttgctgagaa aaatggaaat atttttattt ttacagattt tgcacttctg
     2581 aattcaggtt aaaaactaac ttgtatttag tctgcttaga ggactgtgac ttgaaaattt
     2641 ttatatacca atgagctttt tggtagcgtc cacaatgttt aaaatatttc ataggcgaga
     2701 tccgtgttct ccatttatta atgcattgta gaccaattta actgctgtgt ttcaggaaaa
     2761 ttcttcctag tttaataagc aagctaaaag ttttattttt tatatttagt gcttaatctt
     2821 tgcctcatgt tatgtaaaat tagcctgcag atattttctc tcaattctgt agactctcgc
     2881 aagataaaca ttcaaacagt gaaacaaaca ataaaataaa taaacctaag gatgtcgtat
     2941 tgttttactc tcggtctcag aatttgtatt ttgcctttct gcctttttta tgtcaaaata
     3001 gatgagattg tgtgcatcta taaattgtta ccacagtatt tttgataatg aataaggata
     3061 ggactatctc tgtgattatt aaaatacatg gaattatcca ggaaattttc cttacaagga
     3121 attaaaagac tcctgtattt acttttca
//
