LOCUS       NM_005220               2602 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens distal-less homeobox 3 (DLX3), mRNA.
ACCESSION   NM_005220
VERSION     NM_005220.3
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 2602)
  AUTHORS   Li,F. and Xu,S.
  TITLE     Association Between the Risk of Dental Caries and DLX3 Gene
            Polymorphisms in Chinese Children
  JOURNAL   Oral Health Prev Dent 22, 503-510 (2024)
   PUBMED   39400082
  REMARK    GeneRIF: Association Between the Risk of Dental Caries and DLX3
            Gene Polymorphisms in Chinese Children.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2602)
  AUTHORS   Lee,D.J., Kim,P., Kim,H.Y., Park,J., Lee,S.J., An,H., Heo,J.S.,
            Lee,M.J., Ohshima,H., Mizuno,S., Takahashi,S., Jung,H.S. and
            Kim,S.J.
  TITLE     MAST4 regulates stem cell maintenance with DLX3 for epithelial
            development and amelogenesis
  JOURNAL   Exp Mol Med 56 (7), 1606-1619 (2024)
   PUBMED   38945953
  REMARK    GeneRIF: MAST4 regulates stem cell maintenance with DLX3 for
            epithelial development and amelogenesis.
REFERENCE   3  (bases 1 to 2602)
  AUTHORS   Quan,J., Liu,Y., Ji,L., Zhao,Y. and Zheng,S.
  TITLE     A novel DLX3 mutation causes tricho-dento-osseous syndrome with
            abnormal enamel structure and formation
  JOURNAL   Arch Oral Biol 157, 105849 (2024)
   PUBMED   38006713
  REMARK    GeneRIF: A novel DLX3 mutation causes tricho-dento-osseous syndrome
            with abnormal enamel structure and formation.
REFERENCE   4  (bases 1 to 2602)
  AUTHORS   Saboori-Darabi,S., Carrera,P., Akbari,A., Amiri-Yekta,A.,
            Almadani,N., Battista Pipitone,G., Shahrokh-Tehraninejad,E.,
            Lotfi,M., Mazaheri,M. and Totonchi,M.
  TITLE     A heterozygous missense variant in DLX3 leads to uterine leiomyomas
            and pregnancy losses in a consanguineous Iranian family
  JOURNAL   Gene 865, 147292 (2023)
   PUBMED   36854347
  REMARK    GeneRIF: A heterozygous missense variant in DLX3 leads to uterine
            leiomyomas and pregnancy losses in a consanguineous Iranian family.
REFERENCE   5  (bases 1 to 2602)
  AUTHORS   Jin,H.S., Son,J., Seo,Y.J., Choi,S.R., Ahn,H.B., Go,Y., Lim,J.,
            Oh,K.I., Ryu,K.S. and Lee,J.H.
  TITLE     Salt Dependence of DNA Binding Activity of Human Transcription
            Factor Dlx3
  JOURNAL   Int J Mol Sci 23 (16), 9497 (2022)
   PUBMED   36012753
  REMARK    GeneRIF: Salt Dependence of DNA Binding Activity of Human
            Transcription Factor Dlx3.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2602)
  AUTHORS   Park,G.T., Denning,M.F. and Morasso,M.I.
  TITLE     Phosphorylation of murine homeodomain protein Dlx3 by protein
            kinase C
  JOURNAL   FEBS Lett 496 (1), 60-65 (2001)
   PUBMED   11343707
  REMARK    GeneRIF: results suggest that a serine residue in the homeodomain
            of the mouse Dlx3 protein can be directly phosphorylated by a
            protein kinase C-dependent pathway, which affects the DNA binding
            activity of Dlx3.
REFERENCE   7  (bases 1 to 2602)
  AUTHORS   Roberson,M.S., Meermann,S., Morasso,M.I., Mulvaney-Musa,J.M. and
            Zhang,T.
  TITLE     A role for the homeobox protein Distal-less 3 in the activation of
            the glycoprotein hormone alpha subunit gene in choriocarcinoma
            cells
  JOURNAL   J Biol Chem 276 (13), 10016-10024 (2001)
   PUBMED   11113121
REFERENCE   8  (bases 1 to 2602)
  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   9  (bases 1 to 2602)
  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
REFERENCE   10 (bases 1 to 2602)
  AUTHORS   Scherer,S.W., Heng,H.H., Robinson,G.W., Mahon,K.A., Evans,J.P. and
            Tsui,L.C.
  TITLE     Assignment of the human homolog of mouse Dlx3 to chromosome
            17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in
            situ hybridization
  JOURNAL   Mamm Genome 6 (4), 310-311 (1995)
   PUBMED   7613049
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009720.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005220.2.
            
            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. Trichodentoosseous syndrome (TDO), an
            autosomal dominant condition, has been correlated with DLX3 gene
            mutation. This gene is located in a tail-to-tail configuration with
            another member of the gene family on the long arm of chromosome 17.
            Mutations in this gene have been associated with the autosomal
            dominant conditions trichodentoosseous syndrome and amelogenesis
            imperfecta with taurodontism. [provided by RefSeq, Jul 2008].
            
            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 :: AK313257.1, BC028970.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000434704.2/ ENSP00000389870.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-551               AC009720.19        65192-65742
            552-742             AC009720.19        66826-67016
            743-2602            AC009720.19        68552-70411
FEATURES             Location/Qualifiers
     source          1..2602
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..2602
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="distal-less homeobox 3"
                     /db_xref="GeneID:1747"
                     /db_xref="HGNC:HGNC:2916"
                     /db_xref="MIM:600525"
     exon            1..551
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..1090
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /codon_start=1
                     /product="homeobox protein DLX-3"
                     /protein_id="NP_005211.1"
                     /db_xref="CCDS:CCDS11556.1"
                     /db_xref="GeneID:1747"
                     /db_xref="HGNC:HGNC:2916"
                     /db_xref="MIM:600525"
                     /translation="MSGSFDRKLSSILTDISSSLSCHAGSKDSPTLPESSVTDLGYYS
                     APQHDYYSGQPYGQTVNPYTYHHQFNLNGLAGTGAYSPKSEYTYGASYRQYGAYREQP
                     LPAQDPVSVKEEPEAEVRMVNGKPKKVRKPRTIYSSYQLAALQRRFQKAQYLALPERA
                     ELAAQLGLTQTQVKIWFQNRRSKFKKLYKNGEVPLEHSPNNSDSMACNSPPSPALWDT
                     SSHSTPAPARSQLPPPLPYSASPSYLDDPTNSWYHAQNLSGPHLQQQPPQPATLHHAS
                     PGPPPNPGAVY"
     exon            552..742
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /inference="alignment:Splign:2.1.0"
     exon            743..2602
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2583..2588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="hexamer: AATAAA"
     polyA_site      2602
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="major polyA site"
ORIGIN      
        1 agcatttgat tgtggcttgg gacgcgagga gaggcgcgca gcgaccgcct gacggcaggc
       61 aatggtgtaa gcgcctctcg gcctccccct ccccccagac gcggccgggt cctcccttcg
      121 ccttctggac acacacccct gcctcgtctc ttccgcctct ctcgcactcc ggtccgttcc
      181 tgtcctctgc ggaggccagc cctggggagg tgcagcgccc gccaggatga gtggctcctt
      241 cgatcgcaag ctcagcagca tcctcaccga catctccagc tcccttagct gccatgcggg
      301 ctccaaggac tcgcctaccc tgcccgagtc ttctgtcact gacctgggct actacagcgc
      361 tccccagcac gattactact cgggccagcc ctatggccag acggtgaacc cctacaccta
      421 ccaccaccaa ttcaatctca atgggcttgc aggcacgggc gcttactcgc ccaagtcgga
      481 atatacctac ggagcctcct accggcaata cggggcgtat cgggagcagc cgctgccagc
      541 ccaggaccca gtgtcggtga aggaggagcc ggaagcagag gtgcgcatgg tgaatgggaa
      601 gcccaagaag gtccgaaagc cgcgtacgat ctactccagc taccagctgg ccgccctgca
      661 gcgccgcttc cagaaggccc agtacctggc gctgcccgag cgcgccgagc tggccgcgca
      721 gctgggcctc acgcagacac aggtgaaaat ctggttccag aaccgccgtt ccaagttcaa
      781 gaaactctac aagaacgggg aggtgccgct ggagcacagt cccaataaca gtgattccat
      841 ggcctgcaac tcaccaccat cacccgccct ctgggacacc tcttcccact ccactccggc
      901 ccctgcccgc agtcagctgc ccccgccgct cccatacagt gcctccccca gctacctgga
      961 cgaccccacc aactcctggt atcacgcaca gaacctgagt ggaccccact tacagcagca
     1021 gccgcctcag ccagccaccc tgcaccatgc ctctcccggg cccccgccca accctggggc
     1081 tgtgtactga gcacccatct ggcctgcacc cttgacaaag gaccccagga ccaggcagaa
     1141 ggcgcctccg tcctagccac tcaggaatca tcgaggagca cagggaaaag gaactccctt
     1201 tccccctccc ttgccccttc ctccagggac ccaagcgctt ccagatgaca attgcatgga
     1261 ccaaggatgc cccctgaacc tccctccctc tgcctagaca ctggggtacc cctccagatg
     1321 tggggacatt ccaccccagt ggggacagcc attcccctac ctgctccagg agcctggatt
     1381 ggctttaaat ggctcatcat cttccagctt cttaaactta gtgcctgttc ccagactgga
     1441 gaccttggga tgggggagag tgtggagggt ttgcgggtcc tgcctgtgct ggggcacctg
     1501 gcaccgtgga tcttaaaact tgccaggcct agttcctcct gagcctctgg tggtctcccc
     1561 ctgctcgagc ggcccctcgg ccaataagac agtggacatc atgacgagga ctccgggtgg
     1621 ggacctgaac tggtcaccgc cctgcacttc tagccctcat ttaagatttg agggtgaaac
     1681 caaagaaaac cccctaagtg agggaatctt ttaatatttg tggctttaga ggaaagaact
     1741 aaaggagcca tctctctccc ctctcctccg ttccgagagg aggggtgggt ctcagacgtt
     1801 tttcctatgg acttatttct tccatgtcca ggactttgca caactttggt tttaaaagct
     1861 gttgaaaaat aggaaaacaa agggcattgt tcacagatag ggccaagtct ccccttgcaa
     1921 gggtgcctct gttctgtccc tgcccccacc tcaccttctc tactcctcca gtaagttggc
     1981 agttttggtg ccaaacccca aatctccaaa gagacatacc aggcaagaca aacccccaaa
     2041 cacctccttt ccggtggcct tggaaacaga ttgctccgag ctggagaatg tcgggtgagg
     2101 tgtatgggag aggaggggag agttagaact tgtgcctttg ggagtaaggg gtaactgcct
     2161 ggagggctgg tggcactgcc cctccctgac ccagacatcc caccaaagct aactttcccc
     2221 cacccctgat gcagtaaaac attgaaaaaa aaaaaaaagg agaggtagaa gactgtagct
     2281 atatatataa atatatagta agtttttttt ttttaagagc aacagagaga agcagcctcc
     2341 tccctgctgc ggtttcctat ttatgtggcc atgttcctcc tggacggatc tccctgtgtg
     2401 tttcaagctg agagatgtgg gctccggctg gatttgggtt ttgtgggagg tgcaggggcc
     2461 aagagagacg tggtaggtct ccaagagtcc cacccggggg ggaagaagca aagccatctc
     2521 ccaccccctc ccagccttct catttctgct ttcttactgg actcatcttt atatataatg
     2581 ttaataaaaa agacgaaaat aa
//
