LOCUS       NM_005221               1424 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens distal-less homeobox 5 (DLX5), mRNA.
ACCESSION   NM_005221
VERSION     NM_005221.5  GI:84043959
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 1424)
  AUTHORS   Jacobs,D.I., Hansen,J., Fu,A., Stevens,R.G., Tjonneland,A.,
            Vogel,U.B., Zheng,T. and Zhu,Y.
  TITLE     Methylation alterations at imprinted genes detected among long-term
            shiftworkers
  JOURNAL   Environ. Mol. Mutagen. 54 (2), 141-146 (2013)
   PUBMED   23193016
  REMARK    GeneRIF: The strongest evidence for altered methylation patterns in
            shiftworkers was observed for DLX5 gene.
REFERENCE   2  (bases 1 to 1424)
  AUTHORS   Vera-Carbonell,A., Moya-Quiles,M.R., Ballesta-Martinez,M.,
            Lopez-Gonzalez,V., Bafalliu,J.A., Guillen-Navarro,E. and
            Lopez-Exposito,I.
  TITLE     Rapp-Hodgkin syndrome and SHFM1 patients: delineating the
            p63-Dlx5/Dlx6 pathway
  JOURNAL   Gene 497 (2), 292-297 (2012)
   PUBMED   22342398
  REMARK    GeneRIF: Two patients that have in common a p63-Dlx5/Dlx6 pathway
            dysregulation.
REFERENCE   3  (bases 1 to 1424)
  AUTHORS   Shamseldin,H.E., Faden,M.A., Alashram,W. and Alkuraya,F.S.
  TITLE     Identification of a novel DLX5 mutation in a family with autosomal
            recessive split hand and foot malformation
  JOURNAL   J. Med. Genet. 49 (1), 16-20 (2012)
   PUBMED   22121204
  REMARK    GeneRIF: the first intragenic DLX5 mutation in split hand and foot
            malformation is found; a potential dual role for DLX5 in limb
            development is suggested
REFERENCE   4  (bases 1 to 1424)
  AUTHORS   Sun,C.X., Zhang,L.K., Feng,X.X. and Zhao,Z.H.
  TITLE     [Changes in the expression of Dlx5, Msx2, and Dlx5/Msx2 in hPDLSCs
            loaded with cyclic tensile stress]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 42 (6), 823-826 (2011)
   PUBMED   22332551
  REMARK    GeneRIF: Cyclic tensile stress may induce differentiation of
            periodontal ligament stem cells towards mineralized tissue cells by
            promoting Dlx5 mRNA expression and decreasing Msx2 expression.
REFERENCE   5  (bases 1 to 1424)
  AUTHORS   Yu,Z., Seya,K., Daitoku,K., Motomura,S., Fukuda,I. and Furukawa,K.
  TITLE     Tumor necrosis factor-alpha accelerates the calcification of human
            aortic valve interstitial cells obtained from patients with
            calcific aortic valve stenosis via the BMP2-Dlx5 pathway
  JOURNAL   J. Pharmacol. Exp. Ther. 337 (1), 16-23 (2011)
   PUBMED   21205918
  REMARK    GeneRIF: DLX5 is significantly increased in heart tissue from
            calcific aortic valve patients compared to controls.
REFERENCE   6  (bases 1 to 1424)
  AUTHORS   Eisenstat,D.D., Liu,J.K., Mione,M., Zhong,W., Yu,G., Anderson,S.A.,
            Ghattas,I., Puelles,L. and Rubenstein,J.L.
  TITLE     DLX-1, DLX-2, and DLX-5 expression define distinct stages of basal
            forebrain differentiation
  JOURNAL   J. Comp. Neurol. 414 (2), 217-237 (1999)
   PUBMED   10516593
REFERENCE   7  (bases 1 to 1424)
  AUTHORS   Newberry,E.P., Latifi,T. and Towler,D.A.
  TITLE     The RRM domain of MINT, a novel Msx2 binding protein, recognizes
            and regulates the rat osteocalcin promoter
  JOURNAL   Biochemistry 38 (33), 10678-10690 (1999)
   PUBMED   10451362
REFERENCE   8  (bases 1 to 1424)
  AUTHORS   Zhang,H., Hu,G., Wang,H., Sciavolino,P., Iler,N., Shen,M.M. and
            Abate-Shen,C.
  TITLE     Heterodimerization of Msx and Dlx homeoproteins results in
            functional antagonism
  JOURNAL   Mol. Cell. Biol. 17 (5), 2920-2932 (1997)
   PUBMED   9111364
  REMARK    GeneRIF: In mice, biological and biochemical observations suggest
            that functional antagonism through heterodimer formation is a
            mechanism for regulating the transcriptional actions of Msx and Dlx
            homeoproteins.
REFERENCE   9  (bases 1 to 1424)
  AUTHORS   Scherer,S.W., Poorkaj,P., Massa,H., Soder,S., Allen,T., Nunes,M.,
            Geshuri,D., Wong,E., Belloni,E., Little,S. et al.
  TITLE     Physical mapping of the split hand/split foot locus on chromosome 7
            and implication in syndromic ectrodactyly
  JOURNAL   Hum. Mol. Genet. 3 (8), 1345-1354 (1994)
   PUBMED   7987313
REFERENCE   10 (bases 1 to 1424)
  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 DB280023.1, BC006226.2 and
            AA129308.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 29, 2005 this sequence version replaced gi:41352719.
            
            Summary: This gene encodes a member of a homeobox transcription
            factor gene family similiar to the Drosophila distal-less gene. The
            encoded protein may play a role in bone development and fracture
            healing. Mutation in this gene, which is located in a tail-to-tail
            configuration with another member of the family on the long arm of
            chromosome 7, may be associated with split-hand/split-foot
            malformation. [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 :: AK023493.1, BC006226.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DB280023.1         1-14
            15-1418             BC006226.2         1-1404
            1419-1424           AA129308.1         1-6                 c
FEATURES             Location/Qualifiers
     source          1..1424
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22"
     gene            1..1424
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /note="distal-less homeobox 5"
                     /db_xref="GeneID:1749"
                     /db_xref="HGNC:2918"
                     /db_xref="HPRD:02492"
                     /db_xref="MIM:600028"
     exon            1..563
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    203..205
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /note="upstream in-frame stop codon"
     CDS             209..1078
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /note="distal-less homeo box 5; split hand/foot
                     malformation type 1 with sensorineural hearing loss"
                     /codon_start=1
                     /product="homeobox protein DLX-5"
                     /protein_id="NP_005212.1"
                     /db_xref="GI:4885187"
                     /db_xref="CCDS:CCDS5647.1"
                     /db_xref="GeneID:1749"
                     /db_xref="HGNC:2918"
                     /db_xref="HPRD:02492"
                     /db_xref="MIM:600028"
                     /translation="

MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY

"
     misc_feature    302..562
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /note="Homeobox protein distal-less-like N terminal;
                     Region: DLL_N; pfam12413"
                     /db_xref="CDD:152847"
     misc_feature    620..790
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /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:28970"
     misc_feature    order(620..634,638..640,689..691,707..709,746..748,
                     752..757,764..769,773..781,785..790)
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(626..628,635..637,755..757,764..769,776..778)
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     STS             210..274
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /standard_name="Dlx5"
                     /db_xref="UniSTS:498467"
     STS             213..521
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /standard_name="MARC_9717-9718:996688547:1"
                     /db_xref="UniSTS:269979"
     STS             507..1085
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /standard_name="Dlx5"
                     /db_xref="UniSTS:471089"
     exon            564..748
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /inference="alignment:Splign:1.39.8"
     STS             746..1291
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /standard_name="Dlx5"
                     /db_xref="UniSTS:506853"
     exon            749..1424
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /inference="alignment:Splign:1.39.8"
     variation       910
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:35273378"
     polyA_signal    1394..1399
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
     polyA_site      1418
                     /gene="DLX5"
                     /gene_synonym="SHFM1D"
ORIGIN      

agcagtcagccggccggagacagagacttcacgactcccagtctcctcctcgccgcggccgccgcctcctccttctctcctcctcctcttcctcctcctccctcgctcccacagccatgtctgcttagaccagagcagccccacagccaactagggcagctgccgccgccacaacagcaaggacagccgctgccgccgcccgtgagcgatgacaggagtgtttgacagaagggtccccagcatccgatccggcgacttccaagctccgttccagacgtccgcagctatgcaccatccgtctcaggaatcgccaactttgcccgagtcttcagctaccgattctgactactacagccctacggggggagccccgcacggctactgctctcctacctcggcttcctatggcaaagctctcaacccctaccagtatcagtatcacggcgtgaacggctccgccgggagctacccagccaaagcttatgccgactatagctacgctagctcctaccaccagtacggcggcgcctacaaccgcgtcccaagcgccaccaaccagccagagaaagaagtgaccgagcccgaggtgagaatggtgaatggcaaaccaaagaaagttcgtaaacccaggactatttattccagctttcagctggccgcattacagagaaggtttcagaagactcagtacctcgccttgccggaacgcgccgagctggccgcctcgctgggattgacacaaacacaggtgaaaatctggtttcagaacaaaagatccaagatcaagaagatcatgaaaaacggggagatgcccccggagcacagtcccagctccagcgacccaatggcgtgtaactcgccgcagtctccagcggtgtgggagccccagggctcgtcccgctcgctcagccaccaccctcatgcccaccctccgacctccaaccagtccccagcgtccagctacctggagaactctgcatcctggtacacaagtgcagccagctcaatcaattcccacctgccgccgccgggctccttacagcacccgctggcgctggcctccgggacactctattagatgggctgctctctcttactctcttttttgggactactgtgttttgctgttctagaaaatcataaagaaaggaattcatatggggaagttcggaaaactgaaaaagattcatgtgtaaagcttttttttgcatgtaagttattgcatttcaaaagaccccccctttttttacagaggactttttttgcgcaactgtggacactttcaatggtgccttgaaatctatgacctcaacttttcaaaagacttttttcaatgttattttagccatgtaaataagtgtagatagaggaattaaactgtatattctggataaataaaattatttcgaccatgaaaagcggaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1749 -> Molecular function: GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] evidence: ISS
            GeneID:1749 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: ISS
            GeneID:1749 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA
            GeneID:1749 -> Molecular function: GO:0071837 [HMG box domain binding] evidence: IEA
            GeneID:1749 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS
            GeneID:1749 -> Biological process: GO:0001649 [osteoblast differentiation] evidence: ISS
            GeneID:1749 -> Biological process: GO:0001958 [endochondral ossification] evidence: ISS
            GeneID:1749 -> Biological process: GO:0007399 [nervous system development] evidence: TAS
            GeneID:1749 -> Biological process: GO:0007411 [axon guidance] evidence: IEA
            GeneID:1749 -> Biological process: GO:0008283 [cell proliferation] evidence: IDA
            GeneID:1749 -> Biological process: GO:0030326 [embryonic limb morphogenesis] evidence: IEA
            GeneID:1749 -> Biological process: GO:0030509 [BMP signaling pathway] evidence: ISS
            GeneID:1749 -> Biological process: GO:0030855 [epithelial cell differentiation] evidence: IEA
            GeneID:1749 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
            GeneID:1749 -> Biological process: GO:0045669 [positive regulation of osteoblast differentiation] evidence: IEA
            GeneID:1749 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:1749 -> Biological process: GO:0048646 [anatomical structure formation involved in morphogenesis] evidence: IEA
            GeneID:1749 -> Biological process: GO:0050679 [positive regulation of epithelial cell proliferation] evidence: IEA
            GeneID:1749 -> Biological process: GO:0060021 [palate development] evidence: IEA
            GeneID:1749 -> Biological process: GO:0060166 [olfactory pit development] evidence: IEA
            GeneID:1749 -> Biological process: GO:0060325 [face morphogenesis] evidence: IEA
            GeneID:1749 -> Biological process: GO:0071773 [cellular response to BMP stimulus] evidence: ISS
            GeneID:1749 -> Biological process: GO:0090263 [positive regulation of canonical Wnt receptor signaling pathway] evidence: IEA
            GeneID:1749 -> Biological process: GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] evidence: ISS
            GeneID:1749 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: ISS
            GeneID:1749 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:1749 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
            GeneID:1749 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA