LOCUS       NM_001177376            1374 bp    mRNA    linear   PRI 08-JUL-2013
DEFINITION  Homo sapiens double homeobox 4 like 4 (DUX4L4), mRNA.
ACCESSION   NM_001177376 XM_496731
VERSION     NM_001177376.2  GI:489406880
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 1374)
  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   2  (bases 1 to 1374)
  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   3  (bases 1 to 1374)
  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   4  (bases 1 to 1374)
  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   5  (bases 1 to 1374)
  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   6  (bases 1 to 1374)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC126281.3.
            On May 7, 2013 this sequence version replaced gi:293651568.
            
            Sequence Note: This RefSeq record was created from genomic sequence
            data because no transcripts are available to represent this gene.
            The extent of this RefSeq is supported by similar human loci.
            PubMedID: 17588759 shows some evidence that this locus is
            transcribed and is protein-coding.
            
            CCDS Note: The coding region has been updated to shorten the
            N-terminus to one that is more supported by available transcript
            and publication data. This gene is one of a cluster of highly
            similar DUX4 family members that are located within a D4Z4 repeat
            array in the subtelomeric region of chromosome 4q.
            COMPLETENESS: complete on the 5' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1374              AC126281.3         12780-14153
FEATURES             Location/Qualifiers
     source          1..1374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..1374
                     /gene="DUX4L4"
                     /note="double homeobox 4 like 4"
                     /db_xref="GeneID:441056"
                     /db_xref="HGNC:38686"
     exon            1..1374
                     /gene="DUX4L4"
                     /inference="alignment:Splign:1.39.8"
     variation       19
                     /gene="DUX4L4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:372538811"
     variation       79
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377571437"
     CDS             98..1366
                     /gene="DUX4L4"
                     /codon_start=1
                     /product="double homeobox protein 4-like protein 4"
                     /protein_id="NP_001170847.2"
                     /db_xref="GI:489406881"
                     /db_xref="CCDS:CCDS59484.1"
                     /db_xref="GeneID:441056"
                     /db_xref="HGNC:38686"
                     /translation="

MALPTPSDSTLPAEARGRGRRRRLVWTPSQSEALRACFERNPYPGIATRERLAQAIGIPEPRVQIWFQNERSRQLRQHRRESRPWPGRRGPPEGRRKRTAVTGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHPGQGGRAPAQAGGLCSAAPGGGHPAPSWVAFAHTGAWGTGLPAPHVPCAPGALPQGAFVSQAARAAPALQPSQAAPAEGVSQPAPARGDFAYAAPAPPDGALSHPQAPRWPPHPGKSREDRDPQRDGLPGPCAVAQPGPAQAGPQGQGVLAPPTSQGSPWWGWGRGPQVAGAAWEPQAGEAPPPQPAPPDASARQGQMQGIPAPSQALQEPAPWSALPCGLLLDELLASPEFLQQAQPLLETEAPGELEASEEAASLEAPLSEEEYRALLEEL

"
     misc_feature    170..331
                     /gene="DUX4L4"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:238039"
     misc_feature    order(170..172,290..292,299..304,311..313)
                     /gene="DUX4L4"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     misc_feature    order(173..175,224..226,242..244,281..283,287..292,
                     299..304,308..316,320..325)
                     /gene="DUX4L4"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    401..544
                     /gene="DUX4L4"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:238039"
     misc_feature    order(449..451,467..469,506..508,512..517,524..529,
                     533..541)
                     /gene="DUX4L4"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    order(515..517,524..529,536..538)
                     /gene="DUX4L4"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     variation       178
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:192034245"
     variation       185
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:181644038"
     variation       273
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199875395"
     variation       314
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201176248"
     variation       405
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202126523"
     variation       690
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371128388"
     variation       768
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374300878"
     variation       782
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377664900"
     variation       814
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370872228"
     variation       834
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375389164"
     variation       841
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368001385"
     variation       869
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370569001"
     variation       885
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373672614"
     variation       897
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367563801"
     variation       905
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372231463"
     variation       918
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374471230"
     variation       930
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368371772"
     variation       937
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371877388"
     variation       943
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376224108"
     variation       976
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369280901"
     variation       997
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371910220"
     variation       1017
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:74554690"
     variation       1026
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199891345"
     variation       1029
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200997204"
     variation       1030
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79557605"
     variation       1033
                     /gene="DUX4L4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:77750740"
     variation       1035
                     /gene="DUX4L4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201426413"
     variation       1036
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:202166276"
     variation       1040
                     /gene="DUX4L4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:74372639"
     variation       1044
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200466727"
     variation       1046
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201390942"
     variation       1051
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199597415"
     variation       1060
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75415706"
     variation       1062
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200506495"
     variation       1063
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200991186"
     variation       1065
                     /gene="DUX4L4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201445448"
     variation       1066
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75825492"
     variation       1077
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200921186"
     variation       1078
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76157822"
     variation       1087
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:72499998"
     variation       1098
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:74328744"
     variation       1099
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199879627"
     variation       1100
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78088357"
     variation       1103
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75108513"
     variation       1104
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78443540"
     variation       1106
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:79196034"
     variation       1109
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75800627"
     variation       1114
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:77213040"
     variation       1120
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:74688914"
     variation       1124
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77310966"
     variation       1149
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374952787"
     variation       1200
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368730197"
     variation       1227
                     /gene="DUX4L4"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:372827166"
     variation       1238
                     /gene="DUX4L4"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:374525453"
     variation       1251
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377716962"
     variation       1369
                     /gene="DUX4L4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369684372"
ORIGIN      

acctgccgcagtgcacagtccggctgaggtgcacgggagcccgccggcctctctctgcccgcgtccgtccgtgaaattccggccggggctcaccgcgatggccctcccgacaccttcggacagcaccctccccgcggaagcccggggacgaggacggcgacggagactcgtttggaccccgagccaaagcgaggccctgcgagcctgctttgagcggaacccgtacccgggcatcgccaccagagaacggctggcccaggccatcggcattccggagcccagggtccagatttggtttcagaatgagaggtcacgccagctgaggcagcaccggcgggaatctcggccctggcccgggagacgcggcccgccagaaggccggcgaaagcggaccgccgtcaccggatcccagaccgccctgctcctccgagcctttgagaaggatcgctttccaggcatcgccgcccgggaggagctggccagagagacgggcctcccggagtccaggattcagatctggtttcagaatcgaagggccaggcacccgggacagggtggcagggcgcccgcgcaggcaggcggcctgtgcagcgcggcccccggcgggggtcaccctgctccctcgtgggtcgccttcgcccacaccggcgcgtggggaacggggcttcccgcaccccacgtgccctgcgcgcctggggctctcccacagggggctttcgtgagccaggcagcgagggccgcccccgcgctgcagcccagccaggccgcgccggcagagggggtctcccaacctgccccggcgcgcggggatttcgcctacgccgccccggctcctccggacggggcgctctcccaccctcaggctcctcggtggcctccgcacccgggcaaaagccgggaggaccgggacccgcagcgcgacggcctgccgggcccctgcgcggtggcacagcctgggcccgctcaagcggggccgcagggccaaggggtgcttgcgccacccacgtcccaggggagtccgtggtggggctggggccggggtccccaggtcgctggggcggcgtgggaaccccaagccggggaagctccacctccccagcccgcgcccccggacgcctccgcgcggcaggggcagatgcaaggcatcccggcgccctcccaggcgctccaggagccggcgccctggtctgcactcccctgcggcctgctgctggatgagctcctggcgagcccggagtttctgcagcaggcgcaacctctcctagaaacggaggccccgggggagctggaggcctcggaagaggccgcctcgctggaagcacccctcagcgaggaagaataccgggctctgctggaggagctttaggacgcggg

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:441056 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA
            GeneID:441056 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:441056 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:441056 -> Cellular component: GO:0005634 [nucleus] evidence: IEA