LOCUS       NM_001038493            2203 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens distal-less homeobox 1 (DLX1), transcript variant 2,
            mRNA.
ACCESSION   NM_001038493
VERSION     NM_001038493.1  GI:84043955
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 2203)
  AUTHORS   McKinsey,G.L., Lindtner,S., Trzcinski,B., Visel,A.,
            Pennacchio,L.A., Huylebroeck,D., Higashi,Y. and Rubenstein,J.L.
  TITLE     Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the
            fate switch between cortical and striatal interneurons
  JOURNAL   Neuron 77 (1), 83-98 (2013)
   PUBMED   23312518
  REMARK    GeneRIF: The regulation of fate switch between cortical and
            striatal interneurons is dependent on Dlx1 (and Dlx2).
REFERENCE   2  (bases 1 to 2203)
  AUTHORS   Liu,H., Zhang,J., Song,S., Zhao,H., Han,D. and Feng,H.
  TITLE     A case-control study of the association between tooth-development
            gene polymorphisms and non-syndromic hypodontia in the Chinese Han
            population
  JOURNAL   Eur. J. Oral Sci. 120 (5), 378-385 (2012)
   PUBMED   22984994
  REMARK    GeneRIF: The study data demonstrate an association between SNP
            rs7888172 of the DLX1 gene and non-syndromic hypodontia in Chinese
            Han individuals.
REFERENCE   3  (bases 1 to 2203)
  AUTHORS   Starkova,J., Gadgil,S., Qiu,Y.H., Zhang,N., Hermanova,I.,
            Kornblau,S.M. and Drabkin,H.A.
  TITLE     Up-regulation of homeodomain genes, DLX1 and DLX2, by FLT3
            signaling
  JOURNAL   Haematologica 96 (6), 820-828 (2011)
   PUBMED   21357706
  REMARK    GeneRIF: These findings suggest that alterations in DLX1/2
            contribute to the biological consequences of FLT3 activation.
REFERENCE   4  (bases 1 to 2203)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS ONE 5 (7), E11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2203)
  AUTHORS   Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, Moffett SP,
            Ensrud KE, Nestlerode CS, Marshall LM, Hoffman AR, Lewis C, Lang
            TF, Barrett-Connor E, Ferrell RE, Orwoll ES and Zmuda JM.
  CONSRTM   MrOS Research Group
  TITLE     High-density association study of 383 candidate genes for
            volumetric BMD at the femoral neck and lumbar spine among older men
  JOURNAL   J. Bone Miner. Res. 24 (12), 2039-2049 (2009)
   PUBMED   19453261
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2203)
  AUTHORS   Hamilton,S.P., Woo,J.M., Carlson,E.J., Ghanem,N., Ekker,M. and
            Rubenstein,J.L.
  TITLE     Analysis of four DLX homeobox genes in autistic probands
  JOURNAL   BMC Genet. 6, 52 (2005)
   PUBMED   16266434
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2203)
  AUTHORS   Zhou,Q.P., Le,T.N., Qiu,X., Spencer,V., de Melo,J., Du,G.,
            Plews,M., Fonseca,M., Sun,J.M., Davie,J.R. and Eisenstat,D.D.
  TITLE     Identification of a direct Dlx homeodomain target in the developing
            mouse forebrain and retina by optimization of chromatin
            immunoprecipitation
  JOURNAL   Nucleic Acids Res. 32 (3), 884-892 (2004)
   PUBMED   14769946
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2203)
  AUTHORS   Chiba,S., Takeshita,K., Imai,Y., Kumano,K., Kurokawa,M., Masuda,S.,
            Shimizu,K., Nakamura,S., Ruddle,F.H. and Hirai,H.
  TITLE     Homeoprotein DLX-1 interacts with Smad4 and blocks a signaling
            pathway from activin A in hematopoietic cells
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 100 (26), 15577-15582 (2003)
   PUBMED   14671321
  REMARK    GeneRIF: DLX1 may function as a regulator of multiple signals from
            TGF-beta superfamily members in broad biological contexts during
            blood production
REFERENCE   9  (bases 1 to 2203)
  AUTHORS   Letinic,K., Zoncu,R. and Rakic,P.
  TITLE     Origin of GABAergic neurons in the human neocortex
  JOURNAL   Nature 417 (6889), 645-649 (2002)
   PUBMED   12050665
REFERENCE   10 (bases 1 to 2203)
  AUTHORS   Simeone,A., Acampora,D., Pannese,M., D'Esposito,M., Stornaiuolo,A.,
            Gulisano,M., Mallamaci,A., Kastury,K., Druck,T., Huebner,K. et al.
  TITLE     Cloning and characterization of two members of the vertebrate Dlx
            gene family
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (6), 2250-2254 (1994)
   PUBMED   7907794
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY257976.1 and BC053351.1.
            
            Summary: This gene encodes a member of a homeobox transcription
            factor gene family similiar to the Drosophila distal-less gene. The
            encoded protein is localized to the nucleus where it may function
            as a transcriptional regulator of signals from multiple TGF-{beta}
            superfamily members. The encoded protein may play a role in the
            control of craniofacial patterning and the differentiation and
            survival of inhibitory neurons in the forebrain. This gene is
            located in a tail-to-tail configuration with another member of the
            family on the long arm of chromosome 2. Alternatively spliced
            transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an internal exon in the
            coding region that results in a frameshift and premature stop
            codon, compared to variant 1. It encodes isoform 2, which has a
            shorter, distinct C-terminus, compared to isoform 1.
            
            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 :: BC053351.1, DR000695.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-123               AY257976.1         1-123
            124-2203            BC053351.1         1-2080
FEATURES             Location/Qualifiers
     source          1..2203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32"
     gene            1..2203
                     /gene="DLX1"
                     /note="distal-less homeobox 1"
                     /db_xref="GeneID:1745"
                     /db_xref="HGNC:2914"
                     /db_xref="MIM:600029"
     exon            1..511
                     /gene="DLX1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    106..108
                     /gene="DLX1"
                     /note="upstream in-frame stop codon"
     variation       137
                     /gene="DLX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373295286"
     variation       176
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370896829"
     CDS             199..588
                     /gene="DLX1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     distal-less homeo box 1; homeobox protein DLX-1"
                     /codon_start=1
                     /product="homeobox protein DLX-1 isoform 2"
                     /protein_id="NP_001033582.1"
                     /db_xref="GI:84043956"
                     /db_xref="CCDS:CCDS33328.1"
                     /db_xref="GeneID:1745"
                     /db_xref="HGNC:2914"
                     /db_xref="MIM:600029"
                     /translation="

MTMTTMPESLNSPVSGKAVFMEFGPPNQQMSPSPMSHGHYSMHCLHSAGHSQPDGAYSSASSFSRPLGYPYVNSVSSHASSPYISSVQSYPGSASLAQSRLEDPGQDLVPKQAIQVQEADEAGWGGSGG

"
     variation       279
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374192365"
     variation       309
                     /gene="DLX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377533627"
     variation       363
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151222851"
     variation       369
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149775826"
     variation       373
                     /gene="DLX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370746183"
     variation       382
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112920120"
     variation       396
                     /gene="DLX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374327755"
     variation       441
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367864134"
     variation       448
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141673847"
     variation       452
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374426875"
     exon            512..2183
                     /gene="DLX1"
                     /inference="alignment:Splign:1.39.8"
     variation       559
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376171844"
     variation       587
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138502787"
     variation       598
                     /gene="DLX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368867772"
     variation       631
                     /gene="DLX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200336628"
     variation       640
                     /gene="DLX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:73976550"
     variation       650
                     /gene="DLX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199592485"
     variation       664
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374088146"
     variation       706
                     /gene="DLX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:377685238"
     variation       771
                     /gene="DLX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201733130"
     variation       817
                     /gene="DLX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370539046"
     variation       948
                     /gene="DLX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3821186"
     variation       970
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375887391"
     variation       1062
                     /gene="DLX1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:36106394"
     variation       1202
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:181665527"
     variation       1219
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:788172"
     variation       1241
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:788173"
     variation       1259
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:117299827"
     variation       1263
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:80173687"
     variation       1306
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:186854626"
     variation       1433
                     /gene="DLX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:190611601"
     variation       1502
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183190244"
     variation       1707
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:187928876"
     variation       1723
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150079503"
     variation       1758
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:788174"
     variation       1888..1893
                     /gene="DLX1"
                     /replace=""
                     /replace="ttatta"
                     /db_xref="dbSNP:200797817"
     variation       1975
                     /gene="DLX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375441094"
     variation       2138
                     /gene="DLX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138473851"
     polyA_site      2183
                     /gene="DLX1"
ORIGIN      

aagctttgaaccgagtttggggagctcagcagcatcatgcttagacttttcaaagagacaaactccattttcttatgaatggaaagtgaaaacccctgttccgcttaaattgggttccttcctgtcctgagaaacatagagacccccaaaagggaagcagaggagagaaagtcccacacccagaccccgcgagaagagatgaccatgaccaccatgccagaaagtctcaacagccccgtgtcgggcaaggcggtgtttatggagtttgggccgcccaaccagcaaatgtctccttctcccatgtcccacgggcactactccatgcactgtttacactcggcgggccattcgcagcccgacggcgcctacagctcagcctcgtccttctcccgaccgctgggctacccctacgtcaactcggtcagcagccacgcatccagcccctacatcagttcggtgcagtcctacccgggcagcgccagcctcgcccagagccgcctggaggacccaggtcaagatctggttccaaaacaagcgatccaagttcaagaagctgatgaagcagggtggggcggctctggagggtagtgcgttggccaacggtcgggccctgtctgctggctccccacccgtgccgcccggctggaaccctaactcttcatccgggaagggctcaggaggaaacgcgggctcctatatccccagctacacatcgtggtacccttcagcgcaccaagaagctatgcagcaaccccaacttatgtgaggttgcccgcccgtctccttcttgtctccccggcccaggtccctcccgcctccaggtccatccatcccgtccggaaaagaaggacccagagggaagaaggaacagtggaggcgggacgccctccatctcctcggagccccgcgaggtccggcccagcaacttcccggcatccgcgctctagcctgaaccctggcctgggccgagcagtggcagcagagagtggcctcggagggaagccactgccacctgagacagcccaagcagcaagataaacccgctccacccgacccgccgaccttcagctttgtgggactatcaggaaaaaacaaaacaaaaacaaaatgtagaaaaagcaaaagctcttttctgtcctgtcagtctcctgtctccttttgctctgtctgtgcgctggtaaagtccaggtcctcatccgtccgctgtcctcattctgcggcctcagcaaaaagccacaaggtctgagcggcccgggtcctgccgggctgaccatctccggatcctgggacactctgcctgaccatctgtgtagctggtgtgggaatctgggggcattggagggagggggttttatttattgagaaatggacttcgcctgaggctgtttgccaattcagggttctgctgggcgcaaggaacgcactgttcaaacgcactgtttactttaagcgcacggggagaaacgaataaggaggacgtggtgatttttaatttatacagtaacttttgtacttctctggtatggagagtttggagccgaatgatttgcattttttacatgtccgacattatttaataaataatttttaaaagaaaagaacgataaatgaagccaacatgattttctcatttcgggaggaactctgttgcttcgcctggacaagaaggaaaatgctgatttcctccttgggtagaaagagggagcgagggcaaatggggagtagagagaaaacaggcgagaacaagcactctaattccagtgggctttaaaataagacaaaatcagctttacaacaatccctagaggctcgaccacagaataatgccagtcaccaccctgaacgcacaatctccagtgcaggatctaatgactgtacatattattgttattattattattgttattattgttgttctgtaaacatgttgcacaagcttagcctttttgcgttctgttgtgtgtggctgtaaaaccccatgctttgtgaaatgagaatcttgacatttttcttgtgaaatttggaaaatgtgatcaattgaaatcaactgtgttttgtgttctctatgtcaaagtttagttttatattgagaatgttaacttattgctttgtatcttgggaaaaaaactttgtaaataagttataaagtttctttgagacagtaaaattatgatttcttgaaaaaaaaaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1745 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA
            GeneID:1745 -> Molecular function: GO:0003677 [DNA binding] evidence: NAS
            GeneID:1745 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA
            GeneID:1745 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:1745 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:1745 -> Biological process: GO:0007275 [multicellular organismal development] evidence: NAS
            GeneID:1745 -> Biological process: GO:0009954 [proximal/distal pattern formation] evidence: IEA
            GeneID:1745 -> Biological process: GO:0021766 [hippocampus development] evidence: IEA
            GeneID:1745 -> Biological process: GO:0021882 [regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment] evidence: IEA
            GeneID:1745 -> Biological process: GO:0021893 [cerebral cortex GABAergic interneuron fate commitment] evidence: IEA
            GeneID:1745 -> Biological process: GO:0042475 [odontogenesis of dentin-containing tooth] evidence: IEA
            GeneID:1745 -> Biological process: GO:0043524 [negative regulation of neuron apoptotic process] evidence: IEA
            GeneID:1745 -> Biological process: GO:0048706 [embryonic skeletal system development] evidence: IEA
            GeneID:1745 -> Biological process: GO:0048715 [negative regulation of oligodendrocyte differentiation] evidence: IEA
            GeneID:1745 -> Cellular component: GO:0005634 [nucleus] evidence: NAS