LOCUS       NM_138281               2018 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1,
            mRNA.
ACCESSION   NM_138281
VERSION     NM_138281.3
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 2018)
  AUTHORS   Zhou,J.D., Zhao,Y.J., Leng,J.Y., Gu,Y., Xu,Z.J., Ma,J.C., Wen,X.M.,
            Lin,J., Zhang,T.J. and Qian,J.
  TITLE     DNA methylation-mediated differential expression of DLX4 isoforms
            has opposing roles in leukemogenesis
  JOURNAL   Cell Mol Biol Lett 27 (1), 59 (2022)
   PUBMED   35883028
  REMARK    GeneRIF: DNA methylation-mediated differential expression of DLX4
            isoforms has opposing roles in leukemogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2018)
  AUTHORS   Ling,Z., Long,X., Li,J. and Feng,M.
  TITLE     Homeodomain protein DLX4 facilitates nasopharyngeal carcinoma
            progression via up-regulation of YB-1
  JOURNAL   Genes Cells 25 (7), 466-474 (2020)
   PUBMED   32281175
  REMARK    GeneRIF: Homeodomain protein DLX4 facilitates nasopharyngeal
            carcinoma progression via up-regulation of YB-1.
REFERENCE   3  (bases 1 to 2018)
  AUTHORS   Zhang,L., Wan,Y., Jiang,Y., Zhang,Z., Shu,S., Cheng,W. and Lang,J.
  TITLE     Overexpression of BP1, an isoform of Homeobox Gene DLX4, promotes
            cell proliferation, migration and predicts poor prognosis in
            endometrial cancer
  JOURNAL   Gene 707, 216-223 (2019)
   PUBMED   31100338
  REMARK    GeneRIF: Results demonstrate that high expression of BP1 is
            associated with poor prognosis in patients with endometrial cancer
            and promotes cell proliferation and migration.
REFERENCE   4  (bases 1 to 2018)
  AUTHORS   He,M. and Bian,Z.
  TITLE     Association Between DLX4 Polymorphisms and Nonsyndromic Orofacial
            Clefts in a Chinese Han Population
  JOURNAL   Cleft Palate Craniofac J 56 (3), 357-362 (2019)
   PUBMED   29738288
  REMARK    GeneRIF: indicated the hypothesis that DLX4 variants contributing
            to nonsyndromic orofacial cleft risk should be interpreted with
            caution
REFERENCE   5  (bases 1 to 2018)
  AUTHORS   Lou,Y., Fallah,Y., Yamane,K. and Berg,P.E.
  TITLE     BP1, a potential biomarker for breast cancer prognosis
  JOURNAL   Biomark Med 12 (5), 535-545 (2018)
   PUBMED   29575937
  REMARK    GeneRIF: the role of BP1 protein in tumorigenesis of breast cancer
            and four other malignancies
            Review article
REFERENCE   6  (bases 1 to 2018)
  AUTHORS   Price,J.A., Bowden,D.W., Wright,J.T., Pettenati,M.J. and Hart,T.C.
  TITLE     Identification of a mutation in DLX3 associated with
            tricho-dento-osseous (TDO) syndrome
  JOURNAL   Hum Mol Genet 7 (3), 563-569 (1998)
   PUBMED   9467018
REFERENCE   7  (bases 1 to 2018)
  AUTHORS   Quinn,L.M., Latham,S.E. and Kalionis,B.
  TITLE     A distal-less class homeobox gene, DLX4, is a candidate for
            regulating epithelial-mesenchymal cell interactions in the human
            placenta
  JOURNAL   Placenta 19 (1), 87-93 (1998)
   PUBMED   9481790
REFERENCE   8  (bases 1 to 2018)
  AUTHORS   Morasso,M.I., Yonescu,R., Griffin,C.A. and Sargent,T.D.
  TITLE     Localization of human DLX8 to chromosome 17q21.3-q22 by
            fluorescence in situ hybridization
  JOURNAL   Mamm Genome 8 (4), 302-303 (1997)
   PUBMED   9096128
REFERENCE   9  (bases 1 to 2018)
  AUTHORS   Quinn,L.M., Johnson,B.V., Nicholl,J., Sutherland,G.R. and
            Kalionis,B.
  TITLE     Isolation and identification of homeobox genes from the human
            placenta including a novel member of the Distal-less family, DLX4
  JOURNAL   Gene 187 (1), 55-61 (1997)
   PUBMED   9073066
REFERENCE   10 (bases 1 to 2018)
  AUTHORS   Nakamura,S., Stock,D.W., Wydner,K.L., Bollekens,J.A., Takeshita,K.,
            Nagai,B.M., Chiba,S., Kitamura,T., Freeland,T.M., Zhao,Z.,
            Minowada,J., Lawrence,J.B., Weiss,K.M. and Ruddle,F.H.
  TITLE     Genomic analysis of a new mammalian distal-less gene: Dlx7
  JOURNAL   Genomics 38 (3), 314-324 (1996)
   PUBMED   8975708
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009720.19, BC016145.1,
            DR004878.1, BX113580.1 and CB131875.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_138281.2.
            
            Summary: Many vertebrate homeo box-containing genes have been
            identified on the basis of their sequence similarity with
            Drosophila developmental genes. Members of the Dlx gene family
            contain a homeobox that is related to that of Distal-less (Dll), a
            gene expressed in the head and limbs of the developing fruit fly.
            The Distal-less (Dlx) family of genes comprises at least 6
            different members, DLX1-DLX6. The DLX proteins are postulated to
            play a role in forebrain and craniofacial development. Three
            transcript variants have been described for this gene, however, the
            full length nature of one variant has not been described. Studies
            of the two splice variants revealed that one encoded isoform
            functions as a repressor of the beta-globin gene while the other
            isoform lacks that function. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform (a,
            also known as BP1), which functions as a repressor of the
            beta-globin gene.
            
            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 :: BC016145.1, AF254115.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000240306.5/ ENSP00000240306.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AC009720.19        91219-91226         c
            9-79                BC016145.1         1-71
            80-221              BC016145.1         73-214
            222-562             DR004878.1         92-432
            563-1358            BC016145.1         556-1351
            1359-1924           BX113580.1         134-699
            1925-2018           CB131875.1         3-96                c
FEATURES             Location/Qualifiers
     source          1..2018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..2018
                     /gene="DLX4"
                     /gene_synonym="BP1; DLX7; DLX8; DLX9; OFC15"
                     /note="distal-less homeobox 4"
                     /db_xref="GeneID:1748"
                     /db_xref="HGNC:HGNC:2917"
                     /db_xref="MIM:601911"
     exon            1..562
                     /gene="DLX4"
                     /gene_synonym="BP1; DLX7; DLX8; DLX9; OFC15"
                     /inference="alignment:Splign:2.1.0"
     CDS             280..1002
                     /gene="DLX4"
                     /gene_synonym="BP1; DLX7; DLX8; DLX9; OFC15"
                     /note="isoform a is encoded by transcript variant 1;
                     distal-less homeo box 9; beta protein 1; homeobox protein
                     DLX-4; distal-less homeo box 7; homeobox protein DLX-7;
                     homeobox protein DLX-8"
                     /codon_start=1
                     /product="homeobox protein DLX-4 isoform a"
                     /protein_id="NP_612138.1"
                     /db_xref="CCDS:CCDS11555.1"
                     /db_xref="GeneID:1748"
                     /db_xref="HGNC:HGNC:2917"
                     /db_xref="MIM:601911"
                     /translation="MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAASPN
                     LSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPLCGPAEHPQELEADSEKPRLS
                     PEPSERRPQAPAKKLRKPRTIYSSLQLQHLNQRFQHTQYLALPERAQLAAQLGLTQTQ
                     VKIWFQNKRSKYKKLLKQNSGGQEGDFPGRTFSVSPCSPPLPSLWDLPKAGTLPTSGY
                     GNSFGAWYQHHSSDVLASPQMM"
     exon            563..759
                     /gene="DLX4"
                     /gene_synonym="BP1; DLX7; DLX8; DLX9; OFC15"
                     /inference="alignment:Splign:2.1.0"
     exon            760..2018
                     /gene="DLX4"
                     /gene_synonym="BP1; DLX7; DLX8; DLX9; OFC15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1994..1999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLX4"
                     /gene_synonym="BP1; DLX7; DLX8; DLX9; OFC15"
                     /note="hexamer: ATTAAA"
     polyA_site      2018
                     /gene="DLX4"
                     /gene_synonym="BP1; DLX7; DLX8; DLX9; OFC15"
                     /note="major polyA site"
ORIGIN      
        1 gtcgggtccc gggaaccgaa cccgatggag aggagggggc ccccatggat ttaggggggg
       61 aggggaaagt catggggggc acccccccgg aacccctttc ccaggcgcgc gttctccgct
      121 gaaagaggct cagagagaca ctttctccgg gatcttaagt gtgggggctg ctggctgggg
      181 ggcccgtccg gcccaacgcc ggaggcttgg aaaagagagt tggcagcggg agcggactac
      241 gtgccgggcc atggcccttc tgcccgggcc ctggccacaa tgacctcttt gccctgcccc
      301 ctccccggcc gggacgcctc caaagctgtc ttcccagacc tcgcccctgt cccgtcggta
      361 gcggctgcct acccgcttgg cttgtcccct acaaccgcag cctcccccaa tttgtcctac
      421 tccaggccgt atggccacct cctgtcttac ccctacaccg agccagcgaa ccccggagac
      481 tcctacctgt cctgccagca acccgcggcg ctctctcagc ccctctgcgg acctgcagag
      541 caccctcagg aactcgaggc agactcggag aagccgcggc tgtccccgga accctccgag
      601 cggcgccctc aggcccccgc caaaaagctc cgcaagccga ggaccatcta ctccagcctg
      661 cagctgcagc acctaaacca gcgtttccag cacacgcagt acctggcgct gcccgagagg
      721 gcccagctgg cagcgcagct cggcctcacc cagacccagg taaagatctg gtttcagaac
      781 aaacgctcca agtataagaa gctcctgaag cagaattctg gggggcagga aggggacttc
      841 cctgggagga ccttctctgt gtctccctgc tccccacccc tcccctccct ctgggatcta
      901 cccaaggcag ggaccctgcc caccagtggc tatggcaaca gctttggagc ctggtatcag
      961 catcactcct cagatgtcct ggcttcgcct cagatgatgt gaatctgggg aagggcgggt
     1021 caggcccaca gccttcctgc aaagcccagg acccaggcag tccacctgca ccccttctgg
     1081 gctgggagga aaccagctcc agatgggttt tctctggagg acaagcagtt agaggagaaa
     1141 aaggaatgga gcagagcctg tacccctaac cctaacagct aaatcaagga cctcagcctt
     1201 atataatcat tgtccccacc actaccatgg actggacacc ttcactccag ctggacaaag
     1261 actctggaga gagagccatt ggctggagtt gagactgtcc ccagaaccct tggtcttgcc
     1321 actcccccac tccttcttcc ctctctccct ttctcctctc cctgctttct tgaaaaggac
     1381 tgaatcgcca ctacagcctg ggtgcaaaat cagcaagaaa cattgagtat ttttttttct
     1441 ttgtatgcct ttggccttgc acaacccatt tgtgagcaaa agcagaagtg gaccaccatc
     1501 agctcccacc cacccagcga tttttccttg gaggtcagcc cgttaccccc ataactgatt
     1561 tacctactta ccatactggg aggtagaaga gatgcagaga aatgtggaat ttgtggacct
     1621 atgggtaatt tatgctttcc tcctaaaaaa aaaaaaaaag ccctctttcc caccccctcc
     1681 ccatctcccc tttttgaata gataatggat ccaattatcc atataattca ataggtattt
     1741 attgagaggc tcccttctat tccccatccc taatccctaa cgaacccacg ggcacacact
     1801 tttggaaacc tggtaaagta acacttaggg ggaaatgggg acaaactggc tctctggatt
     1861 agtgcgggta tagacacccc caaataggtg ggtaggccca ttgattcagc tccttgcagc
     1921 tgtctctgtt caaaggaact gtgcagattt agaacgaatt ggagcttgag cttcacacca
     1981 ccagcttcca gagattaaag tttgtacaaa acattgca
//
