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FLASH GENE
Symbol DPYSL5 contributors: mct/pgu - updated : 21-03-2019
HGNC name dihydropyrimidinase-like 5
HGNC id 20637
Corresponding disease
NDDCCA neurodevelopmental disorder with corpus callosum agenesis
Location 2p23.3      Physical location : 27.070.968 - 27.173.218
Synonym name
  • CRMP3 associated molecule
  • collapsin response mediator protein 5
  • UNC-33-like phosphoprotein 6
  • ULIP6 protein
    • Synonym symbol(s) CRAM, ULIP6, CRMP5, FLJ45383, CRMP-5, FLJ45383, DRP5
    EC.number 3.5.4.2
    DNA
    TYPE functioning gene
    STRUCTURE 102.25 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 5225 - 564 - 2015 26122847
    13 - 5145 - 564 - 2015 26122847
    13 - 5142 - 564 - 2015 26122847
    - - - - - - 2013 23298946
  • new short isoform, derived from C-terminal processing of DPYSL5, presenting a nuclear localization both in glioblastoma, and in cancer cell lines
    • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainmidbrain  highly Homo sapiensFetal
     brainhindbrain  moderately Homo sapiensAdult
     gangliasensory gangliadorsal root   Homo sapiens
     spinal cord     Homo sapiens
    Reproductivemale systemtestis   
    Respiratorylung   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Homo sapiensFetal
    Nervousperipherous  highly Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, perinatal
    Text
  • abundant in neuronal progenitors of the subependymal layer and in differentiating interneurons
  • abundantly in the developing brain
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an amidohydrolase motif
  • two central WD repeats, as well as several consensus phosphorylation sites
    • conjugated PhosphoP
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to C.elegans unl-33
    intraspecies homolog to dihydropyrimidinase
    Homologene
    FAMILY
  • DHOase family
  • hydantoinase/dihydropyrimidinase subfamily
  • Collapsin Response Mediator Protein (CRMP) family
    • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,cytosolic
    text
  • present in brain mitochondria and is targeted to the inner mitochondrial membrane
  • strongly expressed during postnatal development and regeneration and decreased with myelination
    • basic FUNCTION
  • mediating signals involved in the guidance and outgrowth of axons
  • neural growth cone collapse
  • involved in signaling of axon guidance and neurite outgrowth during neural development and regeneration
  • inhibits tubulin polymerization and neurite outgrowth
  • potentially involved in the development, maintenance and synaptic plasticity of Purkinje cells
  • importance of DPYSL5 in axon-Schwann cell cooperation during development and regeneration
  • plays an important role in the regulation of neuronal polarity by inhibiting dendrite outgrowth at early developmental stages
  • novel regulatory mechanism that utilizes DPYSL5-induced mitophagy to orchestrate proper dendrite outgrowth and neuronal function
  • cytosolic protein that play a major role in nervous system development
  • plays a critical role in the regulation of osteosarcoma
  • plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules
  • is likely an inhibitory regulator of both neurite outgrowth and axonal guidance contributing to neuronal polarity, as well as dendrite development at early developmental stages
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text oligodendroglia process extension
    PATHWAY
    metabolism
    signaling
    a component form a large complex composed of DPYSL4 and other unidentified proteins
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • dihydropyrimidinase and all the CRMP with the exception of CRMP1
  • DPYSL2 mediating SEMA3A signaling pathway in oligodendrocytes
  • interacts with DPYSL4 and protein-tyrosine kinase(s), and is a new member of an emerging family of molecules that potentially mediate signals involved in the guidance and outgrowth of axons
  • DPYSL5 binding to tubulin modulates DPYSL2 regulation of neurite outgrowth and neuronal polarity during brain development
  • DPYSL5 serves as a major mediator of NOTCH1 signaling and AKT1 activation by controlling the degradation of the NOTCH1 receptor
  • is able to interact with the actin cytoskeleton network in the growth cone and affect growth cone development and neurite outgrowth via this interaction in developing hippocampal neurons
  • SOX5 increases DPYSL5 promoter activity, but not if the putative SOX5 binding site is mutated
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDDCCA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    CRMP-5-IgG found in paraneoplastic ophthalmological entity of combined optic neuritis and retinitis with vitreous inflammatory cells
    tumoral     --other  
    paraneoplastic immunoglobulin G (IgG) autoantibody expressed in thymoma, lung carcinoma
    tumoral     --over  
    in 98.6p 100 of high-grade neuroendocrine lung tumors, including small cell lung carcinoma and large cell lung neuroendocrine carcinoma, but not in any of the squamous cell carcinomas or lung adenocarcinomas
    tumoral     --over  
    in osteosarcoma cell lines and associated with increased migration and invasion
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • novel marker for routine pathologic evaluation of lung tumors surgical samples in distinguishing between highly aggressive neuroendocrine carcinoma and the other lung cancers
  • prognostic factor in osteosarcoma
    • Therapy target
    SystemTypeDisorderPubmed
    cancerbone 
    could be a potential therapeutic target in osteosarcoma
    ANIMAL & CELL MODELS
  • collapsin response mediator protein 5-deficient mice showed abnormal Schwann process extension resulting in abnormal cell-axon segregation