2025-05-09 19:54:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001934 1765 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 2, mRNA. ACCESSION NM_001934 VERSION NM_001934.3 GI:356995877 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 1765) AUTHORS Zhang,L., Yang,M., Gan,L., He,T., Xiao,X., Stewart,M.D., Liu,X., Yang,L., Zhang,T., Zhao,Y. and Fu,J. TITLE DLX4 upregulates TWIST and enhances tumor migration, invasion and metastasis JOURNAL Int. J. Biol. Sci. 8 (8), 1178-1187 (2012) PUBMED 23091415 REMARK GeneRIF: DLX4 induces cancer cells to undergo epithelial to mesenchymal transition through TWIST, enhancing tumor migration, invasion and metastasis. REFERENCE 2 (bases 1 to 1765) AUTHORS Sun,Y.Y., Lu,M., Xi,X.W., Qiao,Q.Q., Chen,L.L., Xu,X.M. and Feng,Y.J. TITLE Regulation of epithelial-mesenchymal transition by homeobox gene DLX4 in JEG-3 trophoblast cells: a role in preeclampsia JOURNAL Reprod Sci 18 (11), 1138-1145 (2011) PUBMED 21602546 REMARK GeneRIF: findings suggest that decreased expression of homeobox protein DLX-4 leads to the pathogenesis of preeclampsia by inhibiting epithelial-mesenchymal transition in trophoblasts REFERENCE 3 (bases 1 to 1765) AUTHORS Trinh,B.Q., Barengo,N. and Naora,H. TITLE Homeodomain protein DLX4 counteracts key transcriptional control mechanisms of the TGF-beta cytostatic program and blocks the antiproliferative effect of TGF-beta JOURNAL Oncogene 30 (24), 2718-2729 (2011) PUBMED 21297662 REMARK GeneRIF: The ability of DLX4 to counteract key transcriptional control mechanisms of the TGF-beta cytostatic program could explain, in part, the resistance of tumors to the antiproliferative effect of TGF-beta. REFERENCE 4 (bases 1 to 1765) 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 1765) AUTHORS Man,Y.G., Schwartz,A., Levine,P.H., Teal,C. and Berg,P.E. TITLE BP1, a putative signature marker for inflammatory breast cancer and tumor aggressiveness JOURNAL Cancer Biomark 5 (1), 9-17 (2009) PUBMED 19242057 REMARK GeneRIF: High BP1 expression is associated with inflammatory breast cancer and tumor aggressiveness REFERENCE 6 (bases 1 to 1765) 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 1765) 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 1765) 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 1765) 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 1765) 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 U73328.1, BG479840.1, BC016145.1, BX105774.1 and CB131875.1. On Nov 15, 2011 this sequence version replaced gi:20143959. 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 (2) differs at the 5' end, and utilizes an alternate start codon compared to variant 1. This results in a shorter isoform (b) with a distinct N-terminus compared to isoform a, and lacks the beta-globin repressor function. 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 :: U73328.1 [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 1-262 U73328.1 7-268 263-361 BG479840.1 86-184 362-569 U73328.1 368-575 570-1103 BC016145.1 818-1351 1104-1399 U73328.1 1108-1403 1400-1653 BX105774.1 228-481 1654-1765 CB131875.1 1-112 c FEATURES Location/Qualifiers source 1..1765 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21.33" gene 1..1765 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /note="distal-less homeobox 4" /db_xref="GeneID:1748" /db_xref="HGNC:2917" /db_xref="HPRD:03553" /db_xref="MIM:601911" exon 1..504 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /inference="alignment:Splign:1.39.8" misc_feature 118..120 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /note="upstream in-frame stop codon" variation 178 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="c" /db_xref="dbSNP:139488744" variation 205 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:187087248" CDS 241..747 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /note="isoform b is encoded by transcript variant 2; 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 b" /protein_id="NP_001925.2" /db_xref="GI:20143960" /db_xref="CCDS:CCDS45728.1" /db_xref="GeneID:1748" /db_xref="HGNC:2917" /db_xref="HPRD:03553" /db_xref="MIM:601911" /translation="
MKLSVLPPRSLLAPYTVLCCPPDSEKPRLSPEPSERRPQAPAKKLRKPRTIYSSLQLQHLNQRFQHTQYLALPERAQLAAQLGLTQTQVKIWFQNKRSKYKKLLKQNSGGQEGDFPGRTFSVSPCSPPLPSLWDLPKAGTLPTSGYGNSFGAWYQHHSSDVLASPQMM
" misc_feature 376..546 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /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(376..390,394..396,445..447,463..465,502..504, 508..513,520..525,529..537,541..546) /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(382..384,391..393,511..513,520..525,532..534) /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 259 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:370757334" variation 366..367 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="a" /db_xref="dbSNP:370138317" variation 377 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:372156240" STS 396..692 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /standard_name="PMC20354P1" /db_xref="UniSTS:271934" variation 428 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="g" /db_xref="dbSNP:151318731" variation 483 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="g" /db_xref="dbSNP:370377249" variation 486 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="c" /db_xref="dbSNP:150742579" STS 489..542 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /standard_name="ksks321" /db_xref="UniSTS:514366" variation 495 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="g" /db_xref="dbSNP:139118373" exon 505..1763 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /inference="alignment:Splign:1.39.8" variation 529 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:149498057" variation 531 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:200916126" variation 549 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="c" /db_xref="dbSNP:146002721" variation 570 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="g" /db_xref="dbSNP:368164202" variation 580 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="g" /replace="t" /db_xref="dbSNP:139954414" variation 620 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:150024578" variation 628 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:372590740" variation 631 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="t" /db_xref="dbSNP:201875580" variation 642 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:146281851" variation 694 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="g" /db_xref="dbSNP:1058559" variation 731 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:202154782" variation 732 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:369561537" variation 761 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:192533761" variation 762 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:371538328" variation 787..788 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="agcccaggacccaggcagtccacctgcac" /db_xref="dbSNP:60243053" variation 794 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="g" /replace="t" /db_xref="dbSNP:201620636" variation 887 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:1058560" variation 920 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:1058561" variation 1069 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:75953192" variation 1074 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:142428478" variation 1104 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:1058562" variation 1174..1175 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="t" /db_xref="dbSNP:201251660" variation 1206 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:146419987" variation 1212 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:1058564" STS 1263..1371 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /standard_name="RH36424" /db_xref="UniSTS:9030" variation 1309 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="t" /db_xref="dbSNP:184512405" variation 1389..1390 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="a" /db_xref="dbSNP:375951477" variation 1389 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="t" /db_xref="dbSNP:143029210" variation 1390..1391 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="a" /db_xref="dbSNP:11429140" variation 1404..1405 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="a" /replace="aaa" /replace="aaaa" /replace="aaaaa" /db_xref="dbSNP:10677419" variation 1405..1406 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="aa" /replace="aaaaa" /db_xref="dbSNP:36061264" variation 1435..1436 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="" /replace="c" /db_xref="dbSNP:34108300" variation 1534 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="c" /db_xref="dbSNP:4793623" variation 1557 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:147873124" STS 1565..1716 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /standard_name="RH12668" /db_xref="UniSTS:49797" variation 1572 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="a" /replace="g" /db_xref="dbSNP:8066341" variation 1713 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" /replace="c" /replace="g" /db_xref="dbSNP:373728187" polyA_signal 1739..1744 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" polyA_site 1763 /gene="DLX4" /gene_synonym="BP1; DLX7; DLX8; DLX9" ORIGIN
ccgcaggcgccgcggtaccctggctgtggccctcggcgctttcttcctagggtcacaggacccatacgagtgggagctccctgggagcagaactgcgtcttgtatcacctggcgcggtgaacgtgggggttgaaacgctccacgcggaaggtagagggcaggggccaagggggcgatcctggtggctgcgctttttgctatttgctgccgacggcatgcagacgagatgcaaataagcttatgaaactgtccgtcctaccccctcgctccctcctcgccccctacaccgtgttgtgctgcccaccagactcggagaagccgcggctgtccccggaaccctccgagcggcgccctcaggcccccgccaaaaagctccgcaagccgaggaccatctactccagcctgcagctgcagcacctaaaccagcgtttccagcacacgcagtacctggcgctgcccgagagggcccagctggcagcgcagctcggcctcacccagacccaggtaaagatctggtttcagaacaaacgctccaagtataagaagctcctgaagcagaattctggggggcaggaaggggacttccctgggaggaccttctctgtgtctccctgctccccacccctcccctccctctgggatctacccaaggcagggaccctgcccaccagtggctatggcaacagctttggagcctggtatcagcatcactcctcagatgtcctggcttcgcctcagatgatgtgaatctggggaagggcgggtcaggcccacagccttcctgcaaagcccaggacccaggcagtccacctgcaccccttctgggctgggaggaaaccagctccagatgggttttctctggaggacaagcagttagaggagaaaaaggaatggagcagagcctgtacccctaaccctaacagctaaatcaaggacctcagccttatataatcattgtccccaccactaccatggactggacaccttcactccagctggacaaagactctggagagagagccattggctggagttgagactgtccccagaacccttggtcttgccactcccccactccttcttccctctctccctttctcctctccctgctttcttgaaaaggactgaatcgccactacagcctgggtgcaaaatcagcaagaaacattgagtatttttttttctttgtatgcctttggccttgcacaacccatttgtgagcaaaagcagaagtggaccaccatcagctcccacccacccagcgatttttccttggaggtcagcccgttacccccataactgatttacctacttaccatactgggaggtagaagagatgcagagaaatgtggaatttgtggacctatgggtaatttatgctttcctcctaaaaaaaaaaaaaaagccctctttcccaccccctccccatctcccctttttgaatagataatggatccaattatccatataattcaataggtatttattgagaggctcccttctattccccatccctaatccctaacgaacccacgggcacacacttttggaaacctggtaaagtaacacttagggggaaatggggacaaactggctctctggattagtgcgggtatagacacccccaaataggtgggtaggcccattgattcagctccttgcagctgtctctgttcaaaggaactgtgcagatttagaacgaattggagcttgagcttcacaccaccagcttccagagattaaagtttgtacaaaacattgcaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1748 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA GeneID:1748 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS GeneID:1748 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:1748 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA GeneID:1748 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS GeneID:1748 -> Biological process: GO:0007275 [multicellular organismal development] evidence: IEA GeneID:1748 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
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