DLX3

Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.^[5][6]

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)[1] Band 17q21.33 Start 49,990,005 bp[1] End 49,995,224 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 D|11 59.01 cM Start 95,010,945 bp[2] End 95,016,122 bp[2]
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 [3] [4]
Wikidata
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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.^[7] Dlx3 transcription is also induced by BMP-2 through transactivation with SMAD1 and SMAD4.^[8]

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.^[6]

Clinical significance

Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome (TDO) and amelogenesis imperfecta with taurodontism.^[6]