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FLASH GENE
Symbol DLX5 contributors: mct/npt/pgu - updated : 14-09-2014
HGNC name distal-less homeobox 5
HGNC id 2918
Corresponding disease
DEL7Q21 chromosome 7q21 interstitial deletion
SHFM1 split hand and foot malformation 1
Location 7q21.3      Physical location : 96.649.703 - 96.654.143
DNA
TYPE functioning gene
SPECIAL FEATURE tail to tail
text closely linked to DLX6 tail to tail
STRUCTURE 4.44 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see SHFM1 SHFM1
Physical map
PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A PON1 7q21.3 paraoxonase 1 PON3 7q21.3 paraoxonase 3 PON2 7q21.3 paraoxonase 2 ASB4 7q21-q22 ankyrin repeat and SOCS box-containing 4 PDK4 7q21.3 pyruvate dehydrogenase kinase, isoenzyme 4 LOC389533 7 LOC389533 DNCI1 7q21.3 dynein, cytoplasmic, intermediate polypeptide 1 SLC25A13 7q21.3 solute carrier family 25, member 13 (citrin) HCP18 7q21.3 cytochrome c, somatic pseudogene SHFM1 LOC392075 7 similar to Ser/Thr protein kinase PAR-1Balpha DLX6 7q21.3 distal-less homeo box 6 DLX5 7q21.3 distal-less homeo box 5 ACN9 7q22.1 ACN9 homolog (S. cerevisiae) LOC392076 7 similar to Rpl7a protein TAC1 7q21.3-q22.1 tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) ASNS 7q21.3 asparagine synthetase LOC389534 7 LOC389534 LOC389535 7 similar to hypothetical protein LOC286031 LOC389536 7 similar to seven transmembrane helix receptor LOC389537 7 similar to olfactory receptor GA_x6K02T2PVTD-14054886-14053957 LOC389538 7 similar to hypothetical protein MGC56855 OCM 7p13-p11 oncomodulin KPI2 7q22.1 oncomodulin MIST1 7q22.1 class II bHLH protein MIST1 DKFZP434B0335 7q22.1 DKFZP434B0335 protein BRI3 7q22.1 brain protein I3 LOC55971 7q22.1 insulin receptor tyrosine kinase substrate NPTX2 7q21.3-q22.1 neuronal pentraxin II DKFZp761L1417 7q22.1 hypothetical protein DKFZp761L1417 TRRAP 7q21.3-q22.1 transformation/transcription domain-associated protein SMURF1 7q21.1-q31.1 transformation/transcription domain-associated protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1424 - 289 - 1994 7907794
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinner    Homo sapiens
Nervousbraindiencephalon   
 nervespinal nervesciatic highly
Reproductivefemale systemplacenta  highly
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
Nervouscentral   
Nervousperipherous   
cell lineage progenitor cells of orofacial skeletal structure (mandible, Meckel's cartilage)
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text
  • all skeletal structures at midgestation
  • normally expressed in the dorsal otic vesicle and later during differentiation of the vestibular tissues
  • IMPRINTING maternally, paternally
    text
  • paternally imprinted and having an important role for the development of gamma-aminobutyric acid (GABA)-ergic neurons
  • maternally imprinted in osteoblasts
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix, DNA binding domain
  • HOMOLOGY
    interspecies homolog to Drosophila distal less Dlx5
    Homologene
    FAMILY
  • distal-less homeobox family
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a role in forebrain and craniofacial development
  • regulating development of peripheral and central components of the olfactory system
  • playing an important role in production of GABAergic neurons
  • acting as an oncogene in lymphomas and lung cancers
  • promotes cell proliferation by transcriptionally regulating MYC
  • has a restricted pattern of expression in adult tissues
  • with DLX6 are functionally equivalent in the endochondral skeleton, in that the requirement for DLX5 and DLX6 function during chondrocyte hypertrophy can be satisfied with DLX5 alone
  • with DLX6, are required for development and function of somal innervating (parvalbumin(+)) neocortical interneurons
  • is a novel target of AKT1 and activity of DLX5 could be modulated by a novel mechanism involving AKT1 during osteoblast differentiation
  • DLX5 and MSX2 play potentially a critical role in controlling cranial neural tube morphogenesis by regulating cell adhesion via the EPHA5 and EPHA7 pathway
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text
  • osteoblast differentiation
  • bone development, fracture healing
  • neurogenesis
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • binding
  • binding to the promoter of MYC
  • RNA
    small molecule
    protein
  • target of MECP2
  • binds to the MYC promoter
  • directly associated with TP63
  • interacting with MSX1 (MSX1/DLX5 interaction is crucial for osteogenic induction during frontal bone development)
  • PRKACA phosphorylates DLX5 and its activation increases the protein stability, osteogenic activity and transcriptional activity of DLX5
  • DLX3 and DLX5 proteins were found to activate the GPNMB transcription, whereas, MSX2 suppressed BMP2-induced GPNMB transcription
  • enhances osteoblastogenesis through upregulation of the expression of RUNX2 and osteoblast marker genes while suppressing adipogenesis through the downregulation of PPARG
  • EDN1 regulates neural crest deployment and fate to form great vessels through DLX5/DLX6-independent mechanisms
  • GATA4 interacted with DLX5 and subsequently decreased DLX5 binding activity to RUNX2 promoter region
  • cell & other
    REGULATION
    induced by bone morphogenetic proteins
    Phosphorylated by AKT1 (AKT1 interacts with and phosphorylates DLX5)
    Other downregulated by PSA1 through its ubiquitin ligase activity for the DLX/MSX interacting Dlxin-1 protein
    regulated by TP63 (TP63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development
    regulated post-translationally by protein kinases such as MAPK14 and CaMK2A
    ASSOCIATED DISORDERS
    corresponding disease(s) SHFM1 , DEL7Q21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation LOI    
    dysregulated (LOI) by mutations of MECP2 in Rett syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    because of a restricted pattern of expression in adult tissues, it may serve as a potential therapeutic target for the treatment of cancers that overexpress it
    ANIMAL & CELL MODELS
  • Dlx5;Dlx6 double mutants exhibit hindlimb ectrodactyly