LOCUS       NM_001012729            1048 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens double homeobox A (DUXA), mRNA.
ACCESSION   NM_001012729
VERSION     NM_001012729.2
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 1048)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (bases 1 to 1048)
  AUTHORS   Dolmans,G.H., Werker,P.M., Hennies,H.C., Furniss,D., Festen,E.A.,
            Franke,L., Becker,K., van der Vlies,P., Wolffenbuttel,B.H.,
            Tinschert,S., Toliat,M.R., Nothnagel,M., Franke,A., Klopp,N.,
            Wichmann,H.E., Nurnberg,P., Giele,H., Ophoff,R.A. and Wijmenga,C.
  CONSRTM   Dutch Dupuytren Study Group; German Dupuytren Study Group;
            LifeLines Cohort Study; BSSH-GODD Consortium
  TITLE     Wnt signaling and Dupuytren's disease
  JOURNAL   N Engl J Med 365 (4), 307-317 (2011)
   PUBMED   21732829
REFERENCE   3  (bases 1 to 1048)
  AUTHORS   Booth,H.A. and Holland,P.W.
  TITLE     Annotation, nomenclature and evolution of four novel homeobox genes
            expressed in the human germ line
  JOURNAL   Gene 387 (1-2), 7-14 (2007)
   PUBMED   17005330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Anne Booth and Peter Holland. The reference
            sequence was derived from AC025588.1.
            
            On Jun 28, 2019 this sequence version replaced NM_001012729.1.
            
            Summary: Homeobox genes encode DNA-binding proteins, many of which
            are thought to be involved in early embryonic development. Homeobox
            genes encode a DNA-binding domain of 60 to 63 amino acids referred
            to as the homeodomain. This gene is a member of the DUXA homeobox
            gene family. Evidence of mRNA expression has not yet been found for
            this gene. Multiple, related processed pseudogenes have been found
            which are thought to reflect expression of this gene in the germ
            line or embryonic cells. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: LN651089.1, SRR5189667.163686.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467147 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000554048.3/ ENSP00000452398.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                AC025588.1         109933-109999       c
            68-222              AC025588.1         103157-103311       c
            223-334             AC025588.1         101681-101792       c
            335-480             AC025588.1         100842-100987       c
            481-586             AC025588.1         97781-97886         c
            587-1048            AC025588.1         96535-96996         c
FEATURES             Location/Qualifiers
     source          1..1048
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..1048
                     /gene="DUXA"
                     /note="double homeobox A"
                     /db_xref="GeneID:503835"
                     /db_xref="HGNC:HGNC:32179"
                     /db_xref="MIM:611168"
     exon            1..67
                     /gene="DUXA"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..657
                     /gene="DUXA"
                     /codon_start=1
                     /product="double homeobox protein A"
                     /protein_id="NP_001012747.1"
                     /db_xref="CCDS:CCDS33126.1"
                     /db_xref="GeneID:503835"
                     /db_xref="HGNC:HGNC:32179"
                     /db_xref="MIM:611168"
                     /translation="MAEDTYSHKMVKTNHRRCRTKFTEEQLKILINTFNQKPYPGYAT
                     KQKLALEINTEESRIQIWFQNRRARHGFQKRPEAETLESSQSQGQDQPGVEFQSREAR
                     RCRTTYSASQLHTLIKAFMKNPYPGIDSREELAKEIGVPESRVQIWFQNRRSRLLLQR
                     KREPVASLEQEEQGKIPEGLQGAEDTQNGTNFTSDSHFSGARTW"
     exon            68..222
                     /gene="DUXA"
                     /inference="alignment:Splign:2.1.0"
     exon            223..334
                     /gene="DUXA"
                     /inference="alignment:Splign:2.1.0"
     exon            335..480
                     /gene="DUXA"
                     /inference="alignment:Splign:2.1.0"
     exon            481..586
                     /gene="DUXA"
                     /inference="alignment:Splign:2.1.0"
     exon            587..1048
                     /gene="DUXA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1021..1026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUXA"
                     /note="hexamer: AATAAA"
     polyA_site      1048
                     /gene="DUXA"
                     /note="major polyA site"
ORIGIN      
        1 gtctcccaga cagtggctca gccttcagga ctctcttcca gcatggccga agacacctat
       61 tcacacaaga tggtaaaaac aaatcatagg cgctgtcgca caaaattcac agaagaacag
      121 ttgaaaatcc tcatcaatac cttcaatcaa aagccttacc caggttatgc taccaaacaa
      181 aaacttgctt tagaaatcaa tacagaagag tccagaatcc agatttggtt tcagaatcga
      241 agagctaggc acggattcca gaaaagacca gaagctgaga ctttagaatc aagccagagc
      301 caggggcaag atcaacctgg tgtggagttt caaagtagag aagccagacg gtgtcgtacc
      361 acctacagcg cctctcagtt acacactctc atcaaggcat ttatgaaaaa cccatatcct
      421 gggattgatt ccagagaaga acttgctaaa gaaatcggtg ttccagagtc aagagtccaa
      481 atttggttcc aaaatcgaag atctagatta cttctccaga gaaaaaggga acctgtggcg
      541 tccttagaac aagaagagca gggcaagatt cctgagggac tgcaaggtgc agaagataca
      601 caaaatggca ccaacttcac tagtgactct catttctctg gagccagaac gtggtgaaca
      661 cagtcaaatt cagtgtactt gataatatca actggacccc aaatctgtct cacggtcttc
      721 ctgggagtct atccttctgc tgaaactgca agctaagcct tctgaagatg gtaaaggact
      781 tggccagatg tggtgggtca cacttgtaat cccactactt tgggaggcca aggcaggaag
      841 attgcttgag ctcaggagtt tgaaaccagc ctggacaaca tatagcaaga ctctgcctct
      901 attataaaaa aacaaaataa atgaaaagga ctgtaggagg cagagacggg tacagggggt
      961 accacactac cctgttgaca cagcctagat ccagagttca gaagaccttg agacaatgaa
     1021 aataaacttg gtaataatct tttttcaa
//
