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FLASH GENE
Symbol PURA contributors: mct - updated : 28-09-2013
HGNC name purine-rich element binding protein A
HGNC id 9701
Corresponding disease
DEL5Q31.3 chromosome 5q31.3 microdeletion
MRD31 mental retardation, autosomal dominant 31
Location 5q31.3      Physical location : 139.493.707 - 139.496.320
Synonym name
  • transcriptional activator protein PUR-alpha
  • purine-rich single-stranded DNA-binding protein alpha
    • Synonym symbol(s) PUR1, PUR, PURALPHA, PUR-ALPHA
    DNA
    TYPE functioning gene
    STRUCTURE 2.61 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure
  • regulated from three distinct and widely-separated transcription start sites (TSS)
  • transcriptional control by multiple promoters used differently in various tissues and cells
    • MAPPING cloned Y linked N status confirmed
    Map cen - D5S2009 - PURA - D5S2116 - D5S658 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 5304 34.8 322 - 2003 12972605
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Reproductivefemale systemovary   
     male systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal glycine-rich region
  • three repeats of a 23-amino acid class I motif
  • two repeats of a 26-amino acid class II motif
  • an amphipathic helix
  • a C-terminal glutamine-glutamate-rich domain
    • conjugated PhosphoP
    mono polymer homomer , heteromer , dimer , trimer
    HOMOLOGY
    interspecies homolog to murine Pura (99.7 pc)
    homolog to rattus Pura (99.7 pc)
    intraspecies homolog to PURB
    Homologene
    FAMILY
  • PUR DNA-binding protein family
    • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,ribosome
    intracellular,nucleus
    text associated with polyribosomes
    basic FUNCTION
  • may be play a role in the initiation of DNA replication and in recombination
  • involved in targeting mRNPs to polyribosomes in cooperation with other RNA-binding proteins
  • acting as a probable transcription activator
  • PURalpha and PURbeta repressed alpha-myosin heavy chain (alpha-MHC) gene expression in the presence of upstream regulatory sequences of the gene
  • participate in transcriptional as well as translational regulation of alpha-MHC expression in cardiac myocytes
  • PURA, and PURB, collaborate with Sp3 to regulate a transcriptional program that enables muscle cells to remodel their phenotype
  • structurally related single-stranded DNA/RNA-binding proteins implicated in the control of cell growth and differentiation
  • Pur alpha and Pur beta repress smooth muscle alpha-actin gene transcription by means of DNA strand-selective cis-element binding and cell type-dependent protein-protein interactions
  • involved in many aspects of nucleic acid homeostasis including the regulation of DNA replication, DNA repair, gene transcription, RNA transport, and mRNA translation
  • has a role in nucleotide excision repair and the repair of UVC-induced DNA damage
  • plays an important role in a variety of cellular processes including transcriptional regulation, cell proliferation and oncogenic transformation
  • potential role in the regulation of the expression and cellular distribution of dendritic and axonal protein
  • importance in the proliferation of neuronal precursor cells during postnatal brain development, suggesting a role in the regulation of the expression and cellular distribution of dendritic and axonal proteins
  • DNA-binding protein with high affinity for the single-stranded PUR-motif (GGN)n
  • critical for myeloid cell development, muscle development, and brain development, including trafficking of mRNA to neuronal dendrites
    • CELLULAR PROCESS cell life, proliferation/growth
    nucleotide, replication
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • nervous system development
  • positive regulation of cell proliferation
    • PATHWAY
    metabolism
    signaling
    a component
  • heterodimer with PURB
  • heterotrimer with PURB and YBX1/Y-box protein 1
    • INTERACTION
    DNA specifically binding to the purine-rich single strand of the PUR element located upstream of the MYC gene
    RNA
    small molecule
    protein
  • interacting with CDK2
  • binding to E2F1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL5Q31.3 , MRD31
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in myelodysplastic syndrome, acute myelogenous leukemia
    constitutional        
    leads to a prolongation of neuronal precursor cell proliferation during postnatal development, a reduced expression of MAP2 and pathological hyperphosphorylation of axonal proteins
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    for hormone-refractory prostate cancer
    ANIMAL & CELL MODELS
  • PURA(-/-) mice
  • Pur&
    • 945;(-/-) mice displayed a megalencephaly and histopathological findings including axonal swellings and hyperphosphorylation of neurofilaments