LOCUS       NM_001306068            1710 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens double homeobox 4 (DUX4), transcript variant 1, mRNA.
ACCESSION   NM_001306068 XM_011531513
VERSION     NM_001306068.3
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 1710)
  AUTHORS   Vangipurapu,R., Oliva,J., Fox,A. and Sverdrup,F.M.
  TITLE     Temporal variation in p38-mediated regulation of DUX4 in
            facioscapulohumeral muscular dystrophy
  JOURNAL   Sci Rep 14 (1), 26437 (2024)
   PUBMED   39488616
  REMARK    GeneRIF: Temporal variation in p38-mediated regulation of DUX4 in
            facioscapulohumeral muscular dystrophy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1710)
  AUTHORS   Snider,L., Asawachaicharn,A., Tyler,A.E., Geng,L.N., Petek,L.M.,
            Maves,L., Miller,D.G., Lemmers,R.J., Winokur,S.T., Tawil,R., van
            der Maarel,S.M., Filippova,G.N. and Tapscott,S.J.
  TITLE     RNA transcripts, miRNA-sized fragments and proteins produced from
            D4Z4 units: new candidates for the pathophysiology of
            facioscapulohumeral dystrophy
  JOURNAL   Hum Mol Genet 18 (13), 2414-2430 (2009)
   PUBMED   19359275
REFERENCE   3  (bases 1 to 1710)
  AUTHORS   Dixit,M., Ansseau,E., Tassin,A., Winokur,S., Shi,R., Qian,H.,
            Sauvage,S., Matteotti,C., van Acker,A.M., Leo,O., Figlewicz,D.,
            Barro,M., Laoudj-Chenivesse,D., Belayew,A., Coppee,F. and Chen,Y.W.
  TITLE     DUX4, a candidate gene of facioscapulohumeral muscular dystrophy,
            encodes a transcriptional activator of PITX1
  JOURNAL   Proc Natl Acad Sci U S A 104 (46), 18157-18162 (2007)
   PUBMED   17984056
REFERENCE   4  (bases 1 to 1710)
  AUTHORS   Clapp,J., Mitchell,L.M., Bolland,D.J., Fantes,J., Corcoran,A.E.,
            Scotting,P.J., Armour,J.A. and Hewitt,J.E.
  TITLE     Evolutionary conservation of a coding function for D4Z4, the tandem
            DNA repeat mutated in facioscapulohumeral muscular dystrophy
  JOURNAL   Am J Hum Genet 81 (2), 264-279 (2007)
   PUBMED   17668377
REFERENCE   5  (bases 1 to 1710)
  AUTHORS   Kowaljow,V., Marcowycz,A., Ansseau,E., Conde,C.B., Sauvage,S.,
            Matteotti,C., Arias,C., Corona,E.D., Nunez,N.G., Leo,O.,
            Wattiez,R., Figlewicz,D., Laoudj-Chenivesse,D., Belayew,A.,
            Coppee,F. and Rosa,A.L.
  TITLE     The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
  JOURNAL   Neuromuscul Disord 17 (8), 611-623 (2007)
   PUBMED   17588759
REFERENCE   6  (bases 1 to 1710)
  AUTHORS   Beckers,M., Gabriels,J., van der Maarel,S., De Vriese,A.,
            Frants,R.R., Collen,D. and Belayew,A.
  TITLE     Active genes in junk DNA? Characterization of DUX genes embedded
            within 3.3 kb repeated elements
  JOURNAL   Gene 264 (1), 51-57 (2001)
   PUBMED   11245978
REFERENCE   7  (bases 1 to 1710)
  AUTHORS   Gabriels,J., Beckers,M.C., Ding,H., De Vriese,A., Plaisance,S., van
            der Maarel,S.M., Padberg,G.W., Frants,R.R., Hewitt,J.E., Collen,D.
            and Belayew,A.
  TITLE     Nucleotide sequence of the partially deleted D4Z4 locus in a
            patient with FSHD identifies a putative gene within each 3.3 kb
            element
  JOURNAL   Gene 236 (1), 25-32 (1999)
   PUBMED   10433963
REFERENCE   8  (bases 1 to 1710)
  AUTHORS   Lee,J.H., Goto,K., Matsuda,C. and Arahata,K.
  TITLE     Characterization of a tandemly repeated 3.3-kb KpnI unit in the
            facioscapulohumeral muscular dystrophy (FSHD) gene region on
            chromosome 4q35
  JOURNAL   Muscle Nerve Suppl 2, S6-S13 (1995)
   PUBMED   7739628
REFERENCE   9  (bases 1 to 1710)
  AUTHORS   Preston,M.K., Tawil,R. and Wang,L.H.
  TITLE     Facioscapulohumeral Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301616
REFERENCE   10 (bases 1 to 1710)
  AUTHORS   Anderson,T.R. and Slotkin,T.A.
  TITLE     Effects of morphine on the rat adrenal medulla
  JOURNAL   Biochem Pharmacol 24 (6), 671-679 (1975)
   PUBMED   235930
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HQ266761.2, AC215524.3 and HQ266762.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 12, 2019 this sequence version replaced NM_001306068.2.
            
            Summary: This gene is located within a D4Z4 repeat array in the
            subtelomeric region of chromosome 4q. The D4Z4 repeat is
            polymorphic in length; a similar D4Z4 repeat array has been
            identified on chromosome 10. Each D4Z4 repeat unit has an open
            reading frame (named DUX4) that encodes two homeoboxes; the
            repeat-array and ORF is conserved in other mammals. The encoded
            protein has been reported to function as a transcriptional
            activator of paired-like homeodomain transcription factor 1 (PITX1;
            GeneID 5307). Contraction of the macrosatellite repeat causes
            autosomal dominant facioscapulohumeral muscular dystrophy (FSHD).
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (DUX4-fl). Both variants
            1 and 2 encode the same isoform.
            
            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 :: HQ266761.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000565211.1/ ENSP00000458065.1
            NMD candidate          :: PMID: 17588759
            RefSeq Select criteria :: based on manual assertion, longest
                                      protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-773               HQ266761.2         1-773
            774-774             AC215524.3         30009-30009         c
            775-1444            HQ266761.2         775-1444
            1445-1461           AC215524.3         29322-29338         c
            1462-1655           HQ266761.2         1462-1655
            1656-1710           HQ266762.1         714-768
FEATURES             Location/Qualifiers
     source          1..1710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..1710
                     /gene="DUX4"
                     /gene_synonym="DUX4L"
                     /note="double homeobox 4"
                     /db_xref="GeneID:100288687"
                     /db_xref="HGNC:HGNC:50800"
                     /db_xref="MIM:606009"
     exon            1..1511
                     /gene="DUX4"
                     /gene_synonym="DUX4L"
                     /inference="alignment:Splign:2.1.0"
     CDS             1..1275
                     /gene="DUX4"
                     /gene_synonym="DUX4L"
                     /note="isoform DUX4-fl is encoded by transcript variant 1;
                     double homeobox protein 10; double homeobox protein 4/10"
                     /codon_start=1
                     /product="double homeobox protein 4 isoform DUX4-fl"
                     /protein_id="NP_001292997.1"
                     /db_xref="CCDS:CCDS77990.1"
                     /db_xref="GeneID:100288687"
                     /db_xref="HGNC:HGNC:50800"
                     /db_xref="MIM:606009"
                     /translation="MALPTPSDSTLPAEARGRGRRRRLVWTPSQSEALRACFERNPYP
                     GIATRERLAQAIGIPEPRVQIWFQNERSRQLRQHRRESRPWPGRRGPPEGRRKRTAVT
                     GSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHPGQGGRAPAQA
                     GGLCSAAPGGGHPAPSWVAFAHTGAWGTGLPAPHVPCAPGALPQGAFVSQAARAAPAL
                     QPSQAAPAEGISQPAPARGDFAYAAPAPPDGALSHPQAPRWPPHPGKSREDRDPQRDG
                     LPGPCAVAQPGPAQAGPQGQGVLAPPTSQGSPWWGWGRGPQVAGAAWEPQAGAAPPPQ
                     PAPPDASASARQGQMQGIPAPSQALQEPAPWSALPCGLLLDELLASPEFLQQAQPLLE
                     TEAPGELEASEEAASLEAPLSEEEYRALLEEL"
     exon            1512..1710
                     /gene="DUX4"
                     /gene_synonym="DUX4L"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atggccctcc cgacaccctc ggacagcacc ctccccgcgg aagcccgggg acgaggacgg
       61 cgacggagac tcgtttggac cccgagccaa agcgaggccc tgcgagcctg ctttgagcgg
      121 aacccgtacc cgggcatcgc caccagagaa cggctggccc aggccatcgg cattccggag
      181 cccagggtcc agatttggtt tcagaatgag aggtcacgcc agctgaggca gcaccggcgg
      241 gaatctcggc cctggcccgg gagacgcggc ccgccagaag gccggcgaaa gcggaccgcc
      301 gtcaccggat cccagaccgc cctgctcctc cgagcctttg agaaggatcg ctttccaggc
      361 atcgccgccc gggaggagct ggccagagag acgggcctcc cggagtccag gattcagatc
      421 tggtttcaga atcgaagggc caggcacccg ggacagggtg gcagggcgcc cgcgcaggca
      481 ggcggcctgt gcagcgcggc ccccggcggg ggtcaccctg ctccctcgtg ggtcgccttc
      541 gcccacaccg gcgcgtgggg aacggggctt cccgcacccc acgtgccctg cgcgcctggg
      601 gctctcccac agggggcttt cgtgagccag gcagcgaggg ccgcccccgc gctgcagccc
      661 agccaggccg cgccggcaga ggggatctcc caacctgccc cggcgcgcgg ggatttcgcc
      721 tacgccgccc cggctcctcc ggacggggcg ctctcccacc ctcaggctcc tcggtggcct
      781 ccgcacccgg gcaaaagccg ggaggaccgg gacccgcagc gcgacggcct gccgggcccc
      841 tgcgcggtgg cacagcctgg gcccgctcaa gcggggccgc agggccaagg ggtgcttgcg
      901 ccacccacgt cccaggggag tccgtggtgg ggctggggcc ggggtcccca ggtcgccggg
      961 gcggcgtggg aaccccaagc cggggcagct ccacctcccc agcccgcgcc cccggacgcc
     1021 tccgcctccg cgcggcaggg gcagatgcaa ggcatcccgg cgccctccca ggcgctccag
     1081 gagccggcgc cctggtctgc actcccctgc ggcctgctgc tggatgagct cctggcgagc
     1141 ccggagtttc tgcagcaggc gcaacctctc ctagaaacgg aggccccggg ggagctggag
     1201 gcctcggaag aggccgcctc gctggaagca cccctcagcg aggaagaata ccgggctctg
     1261 ctggaggagc tttaggacgc ggggttggga cggggtcggg tggttcgggg cagggcggtg
     1321 gcctctcttt cgcggggaac acctggctgg ctacggaggg gcgtgtctcc gccccgcccc
     1381 ctccaccggg ctgaccggcc tgggattcct gccttctagg tctaggcccg gtgagagact
     1441 ccactccgcg gagaactgcc tttctttcct gggcatcccg gggatcccag agccggccca
     1501 ggtaccagca gacctgcgcg cagtgcgcac cccggctgac gtgcaaggga gctcgctggc
     1561 ctctctgtgc ccttgttctt ccgtgaaatt ctggctgaat gtctcccccc accttccgac
     1621 gctgtctagg caaacctgga ttagagttac atctcctgga tgattagttc agagatatat
     1681 taaaatgccc cctccctgtg gatcctatag
//
