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FLASH GENE
Symbol DLX3 contributors: /mct - updated : 03-11-2016
HGNC name distal-less homeobox 3
HGNC id 2916
Corresponding disease
AIHHT amelogenesis imperfecta, hypomaturation-hypoplasic type, with taurodontism
TDOS trichodentoosseous syndrome
Location 17q21.33      Physical location : 48.067.375 - 48.072.588
Synonym name homeobox protein DLX-3
Synonym symbol(s) AI4
DNA
TYPE functioning gene
SPECIAL FEATURE tail to tail
text tail to tail with DLX4
STRUCTURE 5.22 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
GALGT2 17q21.3 beta 1,4 N-acetylgalactosaminyltransferase GNGT2 17q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 NESH 17q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 PHOSPHO1 17q21.32 phosphatase, orphan 1 LOC124871 17q21.33 hypothetical gene LOC124871 KIAA0924 17q21.32 hypothetical gene LOC124871 PHB 17q21.3 prohibitin LOC388400 17 similar to Eukaryotic translation initiation factor 4E (eIF4E) (eIF-4E) (mRNA cap-binding protein) (eIF-4F 25 kDa subunit) NGFR 17q21.31 nerve growth factor receptor (TNFR superfamily, member 16) NXPH3 17q21.31 neurexophilin 3 SPOP 17q22 speckle-type POZ protein SLC35B1 17q21.3-q22 solute carrier family 35, member B1 LOC81558 17q21.33 C/EBP-induced protein MYST2 17q21.32 MYST histone acetyltransferase 2 TAC4 17 tachykinin 4 (hemokinin) LOC124865 17q21.33 similar to ribosomal protein P0-like protein; 60S acidic ribosomal protein PO; ribosomal protein, large, P0-like DLX4 17q21-q22 distal-less homeobox 4 DLX3 17q21.3-q22 distal-less homeo box 3 ITGA3 17q22-q23 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) PDK2 17q21.3 pyruvate dehydrogenase kinase, isoenzyme 2 LOC201191 17q21.33 hypothetical protein LOC201191 PPP1R9B 17q21-q22 protein phosphatase 1, regulatory subunit 9B, spinophilin SGCA 17q21 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) HILS1 17q21.33 spermatid-specific linker histone H1-like protein COL1A1 17q21.31-q22.15 collagen, type I, alpha 1 FLJ33318 17q21.33 hypothetical protein FLJ33318 XYLT2 17q21.3-17q22 xylosyltransferase II MRPL27 17q21.3-q22 mitochondrial ribosomal protein L27 FLJ31364 PRO1855 17q21.33 hypothetical protein PRO1855 FLJ20920 17q21.33 hypothetical protein FLJ20920 MRPS21P9 17q21 mitochondrial ribosomal protein S21 pseudogene 9 CHAD 17q21.33 chondroadherin FLJ11164 17q21.33 hypothetical protein FLJ11164 DKFZp434N1415 17q21.33 Mycbp-associated protein EPN3 17q24.1 epsin 3 FLJ21347 17q21.33 hypothetical protein FLJ21347 LOC253962 17q21.33 hypothetical protein LOC253962 CACNA1G 17q22 calcium channel, voltage-dependent, alpha 1G subunit ABCC3 17q21.3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 MGC15396 17q21.33 hypothetical protein MGC15396 LUC7A 17q21 cisplatin resistance-associated overexpressed protein OA48-18 17q21.33 acid-inducible phosphoprotein FLJ20694 17q21.33 hypothetical protein FLJ20694 LOC390801 17 similar to S100 calcium-binding protein A10; S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)); annexin II ligand, calpactin I, light polypeptide
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 2613 31.6 287 - 1998 9467018
EXPRESSION
Rna function
  • DLX3 mRNA expression in first trimester and term placental tissue
  • Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouthtooth  highly
    Endocrinepancreas    
    Nervousbrain    
    Reproductivefemale systemplacenta    Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
     skin appendageshair  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  specific Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text detected in the human placenta, in trophoblast cell lines and in primary trophoblast cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix, DNA binding domain
  • C-terminus is critical in determining its function during development in the different tissues
  • HOMOLOGY
    interspecies homolog to Drosophila distal less Dlx3
    Homologene
    FAMILY
  • distal-less homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • nuclear expression in villous cytotrophoblasts, syncytiotrophoblast and extravillous cytotrophoblast in the proximal regions of the cytotrophoblast cell columns in first trimester placental tissues
  • basic FUNCTION
  • playing a regulatory role in the development of the ventral forebrain
  • may be playing a role in craniofacial patterning and morphogenesis
  • playing a critical role in enamel formation and dentin formation
  • essential for hair morphogenesis, differentiation and cycling programs
  • necessary for normal placentation
  • has a regulatory role in villous cytotrophoblast (VCT) differentiation
  • regulated the expression of inner root sheath (IRS) keratins
  • is essential for osteoblast differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression
  • orchestrates the expression of multiple regulators of trophoblast differentiation and expression of these regulatory genes is abnormal in fetal growth restriction (FGR)
  • is a central attenuator of adult bone mass in the appendicular skeleton
  • transcription factor, critical for the development of hair follicle and hair formation and regeneration
  • DLX3 is a novel target of ESR1, and ESR1 regulates the osteoblast differentiation through modulation of DLX3 expression and/or interaction with DLX3
  • plays an essential role in the development of bones
  • is indispensable for the regulation of ion transporters and carbonic anhydrases during the maturation stage of amelogenesis, exerting a crucial regulatory function on pH oscillations during enamel mineralization
  • is a positive regulator of the aryl hydrocarbon receptor
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • SENP3-DLX3 pathway dictates osteogenic differentiation of human stem cells, thus delineating the importance of balanced SUMOylation for epigenetic control of gene expression programs
  • a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • SMAD6 playing a modulatory role in the regulation of DLX3-dependent gene transcription within placental trophoblasts
  • triggers TP63 protein degradation by a proteasome-dependent pathway
  • DLX3 and DLX5 proteins were found to activate the GPNMB transcription, whereas, MSX2 suppressed BMP2-induced GPNMB transcription
  • HR down-regulated DLX3 mRNA expression through suppression of DLX3 promoter activity
  • DLX3 is a novel target of AKT1 and the activity of DLX3 could be modulated by a novel mechanism involving AKT1 during osteoblast differentiation
  • is a novel target of PRKACA, and PRKACA mediates BMP signaling during osteoblast differentiation, at least in part, by phosphorylating DLX3 and modulating the protein stability and function of DLX3
  • promotes the gene expression of enamel matrix proteins during amelogenesis
  • KDM4B play a critical role during inner ear invagination via modulating histone methylation of the direct target DLX3
  • ESR1 interacts with DLX3 and increases its transcriptional activity and DNA binding affinity
  • DLX3 induces AHR promoter activity by binding to a regulatory region that resides ~5.5 kb upstream of the transcriptional start site
  • cell & other
    REGULATION
    Phosphorylated by AKT1 (AKT1 phosphorylates DLX3 and AKT1 activation increases protein stability, osteogenic activity and transcriptional activity of DLX3)
    ASSOCIATED DISORDERS
    corresponding disease(s) TDOS , AIHHT
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneostéoporosis
    may be exploited for osteoclastogenesis regulator and potential therapeutic target of osteoporosis
    ANIMAL & CELL MODELS