GGRNA | NM_005220.2

LOCUS       NM_005220               2613 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens distal-less homeobox 3 (DLX3), mRNA.
ACCESSION   NM_005220
VERSION     NM_005220.2  GI:38327640
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 2613)
  AUTHORS   Chui,A., Tay,C., Cocquebert,M., Sheehan,P., Pathirage,N.A.,
            Donath,S., Fournier,T., Badet,J., Evain-Brion,D., Brennecke,S.P.,
            Kalionis,B. and Murthi,P.
  TITLE     Homeobox gene Distal-less 3 is a regulator of villous
            cytotrophoblast differentiation and its expression is increased in
            human idiopathic foetal growth restriction
  JOURNAL   J. Mol. Med. 90 (3), 273-284 (2012)
   PUBMED   22113468
  REMARK    GeneRIF: Increased DLX3 expression in idiopathic fetal growth
            restricion (FGR) may contribute to trophoblast dysfunction observed
            in FGR.
REFERENCE   2  (bases 1 to 2613)
  AUTHORS   Chui,A., Evseenko,D.A., Brennecke,S.P., Keelan,J.A., Kalionis,B.
            and Murthi,P.
  TITLE     Homeobox gene Distal-less 3 (DLX3) is a regulator of villous
            cytotrophoblast differentiation
  JOURNAL   Placenta 32 (10), 745-751 (2011)
   PUBMED   21802725
  REMARK    GeneRIF: DLX3 acts upstream of syncytin, 3beta-hydroxysteroid
            dehydrogenase, and the human gonadotropin beta-subunit to play a
            regulatory role in villous cytotrophoblast differentiation.
REFERENCE   3  (bases 1 to 2613)
  AUTHORS   Di Costanzo,A., Festa,L., Roscigno,G., Vivo,M., Pollice,A.,
            Morasso,M., La Mantia,G. and Calabro,V.
  TITLE     A dominant mutation etiologic for human tricho-dento-osseous
            syndrome impairs the ability of DLX3 to downregulate DeltaNp63alpha
  JOURNAL   J. Cell. Physiol. 226 (8), 2189-2197 (2011)
   PUBMED   21520071
  REMARK    GeneRIF: In cells expressing equal amounts of mutant and wild-type
            DLX3, deltaNp63alpha protein level was efficiently regulated,
            implying that heterozygosity at the DLX3 locus protects
            tricho-dento-osseous patients from severe p63-associated skin
            defects.
REFERENCE   4  (bases 1 to 2613)
  AUTHORS   Duverger,O., Chen,S.X., Lee,D., Li,T., Chock,P.B. and Morasso,M.I.
  TITLE     SUMOylation of DLX3 by SUMO1 promotes its transcriptional activity
  JOURNAL   J. Cell. Biochem. 112 (2), 445-452 (2011)
   PUBMED   21268066
  REMARK    GeneRIF: SUMOylation of DLX3 by SUMO1 promotes its transcriptional
            activity.
REFERENCE   5  (bases 1 to 2613)
  AUTHORS   Nieminen,P., Lukinmaa,P.L., Alapulli,H., Methuen,M., Suojarvi,T.,
            Kivirikko,S., Peltola,J., Asikainen,M. and Alaluusua,S.
  TITLE     DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with
            novel phenotypes
  JOURNAL   Cells Tissues Organs (Print) 194 (1), 49-59 (2011)
   PUBMED   21252474
  REMARK    GeneRIF: DLX3 homeodomain mutations cause tricho-dento-osseous
            syndrome with novel phenotypes
REFERENCE   6  (bases 1 to 2613)
  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 2613)
  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 2613)
  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 2613)
  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 2613)
  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 CB990401.1, AK075167.1,
            BC028970.1, BM982262.1 and AA604314.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 14, 2003 this sequence version replaced gi:4885184.
            
            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              :: mixed/partial sample support
                                           ERS025084, ERS025088 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                CB990401.1         28-37
            11-1250             AK075167.1         1-1240
            1251-2258           BC028970.1         1237-2244
            2259-2497           BM982262.1         117-355             c
            2498-2600           AA604314.1         1-103               c
            2601-2613           BM982262.1         1-13                c
FEATURES             Location/Qualifiers
     source          1..2613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21"
     gene            1..2613
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="distal-less homeobox 3"
                     /db_xref="GeneID:1747"
                     /db_xref="HGNC:2916"
                     /db_xref="HPRD:02752"
                     /db_xref="MIM:600525"
     exon            1..551
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /inference="alignment:Splign:1.39.8"
     variation       38
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34783534"
     misc_feature    68..70
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="upstream in-frame stop codon"
     variation       163
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2278163"
     CDS             227..1090
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /codon_start=1
                     /product="homeobox protein DLX-3"
                     /protein_id="NP_005211.1"
                     /db_xref="GI:4885185"
                     /db_xref="CCDS:CCDS11556.1"
                     /db_xref="GeneID:1747"
                     /db_xref="HGNC:2916"
                     /db_xref="HPRD:02752"
                     /db_xref="MIM:600525"
                     /translation="

MSGSFDRKLSSILTDISSSLSCHAGSKDSPTLPESSVTDLGYYSAPQHDYYSGQPYGQTVNPYTYHHQFNLNGLAGTGAYSPKSEYTYGASYRQYGAYREQPLPAQDPVSVKEEPEAEVRMVNGKPKKVRKPRTIYSSYQLAALQRRFQKAQYLALPERAELAAQLGLTQTQVKIWFQNRRSKFKKLYKNGEVPLEHSPNNSDSMACNSPPSPALWDTSSHSTPAPARSQLPPPLPYSASPSYLDDPTNSWYHAQNLSGPHLQQQPPQPATLHHASPGPPPNPGAVY

"
     misc_feature    305..547
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="Homeobox protein distal-less-like N terminal;
                     Region: DLL_N; pfam12413"
                     /db_xref="CDD:221565"
     misc_feature    <551..898
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="Homeodomain-containing transcription factor
                     [Transcription]; Region: COG5576"
                     /db_xref="CDD:227863"
     misc_feature    611..790
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="Region: homeobox"
     misc_feature    614..784
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /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(614..628,632..634,683..685,701..703,740..742,
                     746..751,758..763,767..775,779..784)
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    order(620..622,629..631,749..751,758..763,770..772)
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     misc_feature    626..628
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[6]
                     /db_xref="HPRD:01498"
     misc_feature    635..637
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[6]
                     /db_xref="HPRD:01498"
     misc_feature    638..640
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[6]
                     /db_xref="HPRD:01498"
     misc_feature    770..772
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[6]
                     /db_xref="HPRD:01498"
     variation       364
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:33937843"
     variation       529
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34931821"
     exon            552..742
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /inference="alignment:Splign:1.39.8"
     variation       628
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2303466"
     exon            743..2602
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /inference="alignment:Splign:1.39.8"
     STS             750..1090
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /standard_name="PMC99823P1"
                     /db_xref="UniSTS:273687"
     variation       962
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3744539"
     variation       1150
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3744540"
     STS             1401..2280
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /standard_name="DLX3_2079"
                     /db_xref="UniSTS:280645"
     variation       2126
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1426320"
     polyA_site      2258
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
                     /experiment="experimental evidence, no additional details
                     recorded"
     polyA_signal    2583..2588
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
     polyA_site      2602
                     /gene="DLX3"
                     /gene_synonym="AI4; TDO"
ORIGIN

agcatttgattgtggcttgggacgcgaggagaggcgcgcagcgaccgcctgacggcaggcaatggtgtaagcgcctctcggcctccccctccccccagacgcggccgggtcctcccttcgccttctggacacacacccctgcctcgtctcttccgcctctctcgcactccggtccgttcctgtcctctgcggaggccagccctggggaggtgcagcgcccgccaggatgagtggctccttcgatcgcaagctcagcagcatcctcaccgacatctccagctcccttagctgccatgcgggctccaaggactcgcctaccctgcccgagtcttctgtcactgacctgggctactacagcgctccccagcacgattactactcgggccagccctatggccagacggtgaacccctacacctaccaccaccaattcaatctcaatgggcttgcaggcacgggcgcttactcgcccaagtcggaatatacctacggagcctcctaccggcaatacggggcgtatcgggagcagccgctgccagcccaggacccagtgtcggtgaaggaggagccggaagcagaggtgcgcatggtgaatgggaagcccaagaaggtccgaaagccgcgtacgatctactccagctaccagctggccgccctgcagcgccgcttccagaaggcccagtacctggcgctgcccgagcgcgccgagctggccgcgcagctgggcctcacgcagacacaggtgaaaatctggttccagaaccgccgttccaagttcaagaaactctacaagaacggggaggtgccgctggagcacagtcccaataacagtgattccatggcctgcaactcaccaccatcacccgccctctgggacacctcttcccactccactccggcccctgcccgcagtcagctgcccccgccgctcccatacagtgcctcccccagctacctggacgaccccaccaactcctggtatcacgcacagaacctgagtggaccccacttacagcagcagccgcctcagccagccaccctgcaccatgcctctcccgggcccccgcccaaccctggggctgtgtactgagcacccatctggcctgcacccttgacaaaggaccccaggaccaggcagaaggcgcctccgtcctagccactcaggaatcatcgaggagcacagggaaaaggaactccctttccccctcccttgccccttcctccagggacccaagcgcttccagatgacatttgcatggaccaaggatgccccctgaacctccctccctctgcctagacactggggtacccctccagatgtggggacattccaccccagtggggacagccattcccctacctgctccaggagcctggattggctttaaatggctcatcatcttccagcttcttaaacttagtgcctgttcccagactggagaccttgggatgggggagagtgtggagggtttgcgggtcctgcctgtgctggggcacctggcaccgtggatcttaaaacttgccaggcctagttcctcctgagcctctggtggtctccccctgctcgagcggcccctcggccaataagacagtggacatcatgacgaggactccgggtggggacctgaactggtcaccgccctgcacttctagccctcatttaagatttgagggtgaaaccaaagaaaaccccctaagtgagggaatcttttaatatttgtggctttagaggaaagaactaaaggagccatctctctcccctctcctccgttccgagaggaggggtgggtctcagacgtttttcctatggacttatttcttccatgtccaggactttgcacaactttggttttaaaagctgttgaaaaataggaaaacaaagggcattgttcacagatagggccaagtctccccttgcaagggtgcctctgttctgtccctgcccccacctcaccttctctactcctccagtaagttggcagttttggtgccaaaccccaaatctccaaagagacataccaggcaagacaaacccccaaacacctcctttccggtggccttggaaacagattgctccgagctggagaatgtcgggtgaggtgtatgggagaggaggggagagttagaacttgtgcctttgggagtaaggggtaactgcctggagggctggtggcactgcccctccctgacccagacatcccaccaaagctaactttcccccacccctgatgcagtaaaacattgaaaaaaaaaaaaaaggagaggtagaagactgtagctatatatataaatatatagtaagttttttttttttaagagcaacagagagaagcagcctcctccctgctgcggtttcctatttatgtggccatgttcctcctggacggatctccctgtgtgtttcaagctgagagatgtgggctccggctggatttgggttttgtgggaggtgcaggggccaagagagacgtggtaggtctccaagagtcccacccgggggggaagaagcaaagccatctcccaccccctcctagccttctcatttctgctttcttactggactcatctttatatataatgttaataaaaaagacgaaaataaaaaaaaaaaaa

//

Annotations: