DLX3

Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.

DLX3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4XRS
Identifiers
Aliases	DLX3, AI4, TDO, AV237891, Dlx-3, distal-less homeobox 3
External IDs	OMIM: 600525; MGI: 94903; HomoloGene: 74544; GeneCards: DLX3; OMA:DLX3 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.33 Start 49,990,005 bp End 49,995,224 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 D|11 59.01 cM Start 95,010,945 bp End 95,016,122 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg skin of abdomen skin of arm testicle placenta gums gingival epithelium skin of thigh popliteal artery tibial arteries Top expressed in tooth molar lip hair follicle incisor tongue skin of back lower jaw genital tubercle mandible More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding chromatin binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component nucleus Biological process multicellular organism development regulation of transcription, DNA-templated placenta development blood vessel development positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II odontoblast differentiation odontogenesis of dentin-containing tooth regulation of transcription by RNA polymerase II cell differentiation epithelial cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1747 13393 Ensembl ENSG00000064195 ENSMUSG00000001510 UniProt O60479 Q64205 RefSeq (mRNA) NM_005220 NM_010055 RefSeq (protein) NP_005211 NP_034185 Location (UCSC) Chr 17: 49.99 – 50 Mb Chr 11: 95.01 – 95.02 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

Dlx3 is a crucial regulator of hair follicle differentiation and cycling. Dlx3 transcription is mediated through Wnt, and colocalization of Dlx3 with phospho-SMAD1/5/8 is involved in the regulation of transcription by BMP signaling. Dlx3 transcription is also induced by BMP-2 through transactivation with SMAD1 and SMAD4.

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. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17.

Clinical significance

Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome (TDO) and amelogenesis imperfecta with taurodontism.

Further reading

• Morasso MI, Radoja N (2005). "Dlx Genes, p63, and Ectodermal Dysplasias". Birth Defects Res. C. 75 (3): 163–71. doi:10.1002/bdrc.20047. PMC 1317295. PMID 16187309.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Nakamura S, Stock DW, Wydner KL, et al. (1997). "Genomic analysis of a new mammalian distal-less gene: Dlx7". Genomics. 38 (3): 314–24. doi:10.1006/geno.1996.0634. PMID 8975708.
• Price JA, Bowden DW, Wright JT, et al. (1998). "Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome". Hum. Mol. Genet. 7 (3): 563–9. doi:10.1093/hmg/7.3.563. PMID 9467018.
• Roberson MS, Meermann S, Morasso MI, et al. (2001). "A role for the homeobox protein Distal-less 3 in the activation of the glycoprotein hormone alpha subunit gene in choriocarcinoma cells". J. Biol. Chem. 276 (13): 10016–24. doi:10.1074/jbc.M007481200. PMID 11113121.
• Park GT, Denning MF, Morasso MI (2001). "Phosphorylation of murine homeodomain protein Dlx3 by protein kinase C". FEBS Lett. 496 (1): 60–5. Bibcode:2001FEBSL.496...60P. doi:10.1016/S0014-5793(01)02398-5. PMC 1283141. PMID 11343707.
• Peng L, Payne AH (2002). "AP-2 gamma and the homeodomain protein distal-less 3 are required for placental-specific expression of the murine 3 beta-hydroxysteroid dehydrogenase VI gene, Hsd3b6". J. Biol. Chem. 277 (10): 7945–54. doi:10.1074/jbc.M106765200. PMID 11773066.
• Sumiyama K, Irvine SQ, Stock DW, et al. (2002). "Genomic structure and functional control of the Dlx3-7 bigene cluster". Proc. Natl. Acad. Sci. U.S.A. 99 (2): 780–5. Bibcode:2002PNAS...99..780S. doi:10.1073/pnas.012584999. PMC 117382. PMID 11792834.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Imabayashi H, Mori T, Gojo S, et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
• Holland MP, Bliss SP, Berghorn KA, Roberson MS (2004). "A role for CCAAT/enhancer-binding protein beta in the basal regulation of the distal-less 3 gene promoter in placental cells". Endocrinology. 145 (3): 1096–105. doi:10.1210/en.2003-0777. PMID 14670999.
• Haldeman RJ, Cooper LF, Hart TC, et al. (2005). "Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome". Bone. 35 (4): 988–97. doi:10.1016/j.bone.2004.06.003. PMID 15454107.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Dong J, Amor D, Aldred MJ, et al. (2005). "DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism". Am. J. Med. Genet. A. 133 (2): 138–41. doi:10.1002/ajmg.a.30521. PMID 15666299. S2CID 8482065.
• Islam M, Lurie AG, Reichenberger E (2006). "Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 100 (6): 736–42. doi:10.1016/j.tripleo.2005.04.017. PMID 16301156.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Morsczeck C (2006). "Gene expression of runx2, Osterix, c-fos, DLX-3, DLX-5, and MSX-2 in dental follicle cells during osteogenic differentiation in vitro". Calcif. Tissue Int. 78 (2): 98–102. doi:10.1007/s00223-005-0146-0. PMID 16467978. S2CID 7621703.
• Berghorn KA, Clark-Campbell PA, Han L, et al. (2006). "Smad6 represses Dlx3 transcriptional activity through inhibition of DNA binding". J. Biol. Chem. 281 (29): 20357–67. doi:10.1074/jbc.M603049200. PMID 16687405.

External links

• DLX3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: O60479 (Homeobox protein DLX-3) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.