LOCUS       NM_006986               2723 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens MAGE family member D1 (MAGED1), transcript variant 2,
            mRNA.
ACCESSION   NM_006986
VERSION     NM_006986.4
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 2723)
  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 2723)
  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   3  (bases 1 to 2723)
  AUTHORS   Liu,L., Cui,Z., Zhang,J., Wang,J., Gu,S., Ma,J., Chen,H., Hang,L.,
            Yang,J. and Shi,Y.
  TITLE     Knockdown of NRAGE Impairs Homologous Recombination Repair and
            Sensitizes Hepatoblastoma Cells to Ionizing Radiation
  JOURNAL   Cancer Biother Radiopharm 35 (1), 41-49 (2020)
   PUBMED   31916845
  REMARK    GeneRIF: Knockdown of NRAGE Impairs Homologous Recombination Repair
            and Sensitizes Hepatoblastoma Cells to Ionizing Radiation.
REFERENCE   4  (bases 1 to 2723)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2723)
  AUTHORS   Zou,W., Cui,J., Ren,Z. and Leng,Y.
  TITLE     NRAGE is a potential diagnostic biomarker of hepatocellular
            carcinoma
  JOURNAL   Medicine (Baltimore) 97 (48), e13411 (2018)
   PUBMED   30508943
  REMARK    GeneRIF: NRAGE is significantly upregulated in patients with
            Hepatocellular Carcinoma.  It could possibly be a novel diagnostic
            biomarker for HCC early detection.
REFERENCE   6  (bases 1 to 2723)
  AUTHORS   Masuda,Y., Sasaki,A., Shibuya,H., Ueno,N., Ikeda,K. and Watanabe,K.
  TITLE     Dlxin-1, a novel protein that binds Dlx5 and regulates its
            transcriptional function
  JOURNAL   J Biol Chem 276 (7), 5331-5338 (2001)
   PUBMED   11084035
REFERENCE   7  (bases 1 to 2723)
  AUTHORS   Zhang,C.G., Xing,G.C., Wei,H.D., Yu,Y.T. and He,F.C.
  TITLE     [A new melanoma antigen-encoding gene subfamily in human chromosome
            X]
  JOURNAL   Yi Chuan Xue Bao 28 (3), 197-203 (2001)
   PUBMED   11280991
REFERENCE   8  (bases 1 to 2723)
  AUTHORS   Kubu,C.J., Goldhawk,D.G., Barker,P.A. and Verdi,J.M.
  TITLE     Identification of the translational initiation codon in human
            MAGED1
  JOURNAL   Genomics 70 (1), 150-152 (2000)
   PUBMED   11087672
REFERENCE   9  (bases 1 to 2723)
  AUTHORS   Salehi,A.H., Roux,P.P., Kubu,C.J., Zeindler,C., Bhakar,A.,
            Tannis,L.L., Verdi,J.M. and Barker,P.A.
  TITLE     NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin
            receptor and facilitates nerve growth factor-dependent apoptosis
  JOURNAL   Neuron 27 (2), 279-288 (2000)
   PUBMED   10985348
REFERENCE   10 (bases 1 to 2723)
  AUTHORS   Pold,M., Zhou,J., Chen,G.L., Hall,J.M., Vescio,R.A. and
            Berenson,J.R.
  TITLE     Identification of a new, unorthodox member of the MAGE gene family
  JOURNAL   Genomics 59 (2), 161-167 (1999)
   PUBMED   10409427
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF529661.1 and BC014070.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_006986.3.
            
            Summary: This gene is a member of the melanoma antigen gene (MAGE)
            family. Most of the genes of this family encode tumor specific
            antigens that are not expressed in normal adult tissues except
            testis. Although the protein encoded by this gene shares strong
            homology with members of the MAGE family, it is expressed in almost
            all normal adult tissues. This gene has been demonstrated to be
            involved in the p75 neurotrophin receptor mediated programmed cell
            death pathway. Three transcript variants encoding two different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            coding exon compared to variant 1. The resulting isoform (b) has
            the same N- and C-termini but is shorter compared to isoform a.
            Variants 2 and 3 both encode isoform b.
            
            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 :: AF258554.1, SRR7346977.1314785.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326587.12/ ENSP00000325333.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BF529661.1         22-38
            18-214              BC014070.2         2-198
            215-2723            BC014070.2         367-2875
FEATURES             Location/Qualifiers
     source          1..2723
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..2723
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /note="MAGE family member D1"
                     /db_xref="GeneID:9500"
                     /db_xref="HGNC:HGNC:6813"
                     /db_xref="MIM:300224"
     exon            1..133
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            134..214
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..2506
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /note="isoform b is encoded by transcript variant 2;
                     neurotrophin receptor-interacting MAGE homolog;
                     melanoma-associated antigen D1; MAGE-D1 antigen; melanoma
                     antigen family D, 1; MAGE tumor antigen CCF; melanoma
                     antigen family D1"
                     /codon_start=1
                     /product="melanoma-associated antigen D1 isoform b"
                     /protein_id="NP_008917.3"
                     /db_xref="CCDS:CCDS14337.1"
                     /db_xref="GeneID:9500"
                     /db_xref="HGNC:HGNC:6813"
                     /db_xref="MIM:300224"
                     /translation="MAQKMDCGAGLLGFQAEASVEDSALLMQTLMEAIQISEAPPTNQ
                     ATAAASPQSSQPPTANEMADIQVSAAAARPKSAFKVQNATTKGPNGVYDFSQAHNAKD
                     VPNTQPKAAFKSQNATPKGPNAAYDFSQAATTGELAANKSEMAFKAQNATTKVGPNAT
                     YNFSQSLNANDLANSRPKTPFKAWNDTTKAPTADTQTQNVNQAKMATSQADIETDPGI
                     SEPDGATAQTSADGSQAQNLESRTIIRGKRTRKINNLNVEENSSGDQRRAPLAAGTWR
                     SAPVPVTTQNPPGAPPNVLWQTPLAWQNPSGWQNQTARQTPPARQSPPARQTPPAWQN
                     PVAWQNPVIWPNPVIWQNPVIWPNPIVWPGPVVWPNPLAWQNPPGWQTPPGWQTPPGW
                     QGPPDWQGPPDWPLPPDWPLPPDWPLPTDWPLPPDWIPADWPIPPDWQNLRPSPNLRP
                     SPNSRASQNPGAAQPRDVALLQERANKLVKYLMLKDYTKVPIKRSEMLRDIIREYTDV
                     YPEIIERACFVLEKKFGIQLKEIDKEEHLYILISTPESLAGILGTTKDTPKLGLLLVI
                     LGVIFMNGNRASEAVLWEALRKMGLRPGVRHPLLGDLRKLLTYEFVKQKYLDYRRVPN
                     SNPPEYEFLWGLRSYHETSKMKVLRFIAEVQKRDPRDWTAQFMEAADEALDALDAAAA
                     EAEARAEARTRMGIGDEAVSGPWSWDDIEFELLTWDEEGDFGDPWSRIPFTFWARYHQ
                     NARSRFPQTFAGPIIGPGGTASANFAANFGAIGFFWVE"
     exon            215..922
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1591
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1592..1655
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1656..1735
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1736..1827
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1828..1907
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1908..1950
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2013
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            2014..2128
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            2129..2514
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            2515..2723
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2698..2703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /note="hexamer: AATAAA"
     polyA_site      2723
                     /gene="MAGED1"
                     /gene_synonym="DLXIN-1; NRAGE"
                     /note="major polyA site"
ORIGIN      
        1 aagctgccgc gctggcattt tctcctggac aaggagagag tgcggctgct gagagccgag
       61 cccagcaatc ccgatcctct gagtcgtgaa gaagggaggc agcgaggggg ttggggttgg
      121 ggcctgaggc aagcccccag gctccgctct tgccagaggg acaggagcca tggctcagaa
      181 aatggactgt ggtgcgggcc tcctcggctt ccaggctgag gcctccgtag aagacagcgc
      241 cttgcttatg cagaccttga tggaggccat ccagatctca gaggctccac ctactaacca
      301 ggccaccgca gctgctagtc cccagagttc acagccccca actgccaatg agatggctga
      361 cattcaggtt tcagcagctg ccgctaggcc taagtcagcc tttaaagtcc agaatgccac
      421 cacaaaaggc ccaaatggtg tctatgattt ctctcaggct cataatgcca aggatgtgcc
      481 caacacgcag cccaaggcag cctttaagtc ccaaaatgct accccaaagg gtccaaatgc
      541 tgcctatgat ttttcccagg cagcaaccac tggtgagtta gctgctaaca agtctgagat
      601 ggccttcaag gcccagaatg ccactactaa agtgggccca aatgccacct acaatttctc
      661 tcagtctctc aatgccaatg acctggccaa cagcaggcct aagacccctt tcaaggcttg
      721 gaatgatacc actaaggccc caacagctga tacccagacc cagaatgtaa atcaggccaa
      781 aatggccact tcccaggctg acatagagac cgacccaggt atctctgaac ctgacggtgc
      841 aactgcacag acatcagcag atggttccca ggctcagaat ctggagtccc ggacaataat
      901 tcggggcaag aggacccgca agattaataa cttgaatgtt gaagagaaca gcagtgggga
      961 tcagaggcgg gccccactgg ctgcagggac ctggaggtct gcaccagttc cagtgaccac
     1021 tcagaaccca cctggcgcac cccccaatgt gctctggcag acgccattgg cttggcagaa
     1081 cccctcaggc tggcaaaacc agacagccag gcagacccca ccagcacgtc agagccctcc
     1141 agctaggcag accccaccag cctggcagaa cccagtcgct tggcagaacc cagtgatttg
     1201 gccaaaccca gtaatctggc agaacccagt gatctggcca aaccccattg tctggcccgg
     1261 ccctgttgtc tggccgaatc cactggcctg gcagaatcca cctggatggc agactccacc
     1321 tggatggcag accccaccgg gctggcaggg tcctccagac tggcaaggtc ctcctgactg
     1381 gccgctacca cccgactggc cactgccacc tgattggcca cttcccactg actggccact
     1441 accacctgac tggatccccg ctgattggcc aattccacct gactggcaga acctgcgccc
     1501 ctcgcctaac ctgcgccctt ctcccaactc gcgtgcctca cagaacccag gtgctgcaca
     1561 gccccgagat gtggcccttc ttcaggaaag agcaaataag ttggtcaagt acttgatgct
     1621 taaggactac acaaaggtgc ccatcaagcg ctcagaaatg ctgagagata tcatccgtga
     1681 atacactgat gtttatccag aaatcattga acgtgcatgc tttgtcctag agaagaaatt
     1741 tgggattcaa ctgaaagaaa ttgacaaaga agaacacctg tatattctca tcagtacccc
     1801 cgagtccctg gctggcatac tgggaacgac caaagacaca cccaagctcg gtctcctctt
     1861 ggtgattctg ggtgtcatct tcatgaatgg caaccgtgcc agtgaggctg tcctctggga
     1921 ggcactacgc aagatgggac tgcgtcctgg ggtgagacat cccctccttg gagatctaag
     1981 gaaacttctc acctatgagt ttgtaaagca gaaatacctg gactacagac gagtgcccaa
     2041 cagcaacccc ccggagtatg agttcctctg gggcctccgt tcctaccatg agactagcaa
     2101 gatgaaagtg ctgagattca ttgcagaggt tcagaaaaga gaccctcgtg actggactgc
     2161 acagttcatg gaggctgcag atgaggcctt ggatgctctg gatgctgctg cagctgaggc
     2221 cgaagcccgg gctgaagcaa gaacccgcat gggaattgga gatgaggctg tgtctgggcc
     2281 ctggagctgg gatgacattg agtttgagct gctgacctgg gatgaggaag gagattttgg
     2341 agatccctgg tccagaattc catttacctt ctgggccaga taccaccaga atgcccgctc
     2401 cagattccct cagacctttg ccggtcccat tattggtcct ggtggtacag ccagtgccaa
     2461 cttcgctgcc aactttggtg ccattggttt cttctgggtt gagtgagatg ttggatattg
     2521 ctatcaatcg cagtagtctt tcccctgtgt gaggctgaag cctcagattc cttctaaaca
     2581 cagctatcta gagagccaca tcctgttgac tgaaagtggc atgcaagata aatttatttg
     2641 ctgttccttg tctactgctt tttttcccct tgtgtgctgt caagttttgg tatcagaaat
     2701 aaacattgaa attgcaaagt gaa
//
