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FLASH GENE
Symbol ZPR1 contributors: mct - updated : 30-05-2017
HGNC name zinc finger protein 259
HGNC id 13051
Location 11q23.3      Physical location : -
Synonym name Zinc-finger protein ZPR1
Synonym symbol(s) ZNF259
DNA
TYPE functioning gene
STRUCTURE 11.08 kb     14 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2019 - 405 - 2014 24989072
14 - 2181 - 459 - 2014 24989072
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   moderately
 salivary gland   highly
Endocrinepancreas   highly
Lymphoid/Immunetonsils   highly
Nervousbrain   highly
Reproductivemale systemprostate  moderately
Respiratorylung   moderately
Urinarykidney   highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
conjugated MetalloP
HOMOLOGY
Homologene
FAMILY ZPR1 family
CATEGORY signaling
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
intracellular,nucleus,nucleolus
text
  • cytoplasmic translocating to nucleus after treatment with mitogens
  • cytoplasmic in quiescent cells, nucleolar in proliferating cells
  • basic FUNCTION
  • required for normal nucleolar function and regulating the localization of SMN in nuclear bodies
  • is required for the accumulation of SMN in sub-nuclear bodies
  • may be a protective modifier of SMA
  • stimulates neuron differentiation and axonal growth in motor neuron-like cells
  • implicated in FGFR signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding the cytoplasmic tail of EGFR, released after activation
  • interacts with complexes formed by SMN (modifier of SMA)
  • interactions between EEF1A2 and ZPR1 (zinc-finger protein 1), which interacts with the SMN (survival motor neuron) protein, may be important in motor neuron biology
  • binds to eukaryotic translation elongation factor (EEF1A2) in response to growth stimuli, and is also involved in transcription and cell cycle regulation
  • is an evolutionarily conserved protein first identified in mammalian cells as a factor that binds the intracellular domain of the unactivated epidermal growth factor receptor (EGFR)
  • down-regulation of SMN, a protein known to interact with ZPR1 in mammalian cells, shows defects similar to ZPR1 mutants
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in patients with severe SMA
    constitutional     --low  
    causing reduced number of microtubules, responsible for axon retraction, and neurodegeneration
    constitutional     --low  
    it is possible that the reduced ZPR1 expression observed in SMA patients may contribute to the severity of disease because the primary defect in SMA is the loss of spinal motor neurons
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Zpr1 stimulates neurite growth and rescues axonal growth defects in SMN-deficient spinal cord neurons from SMA mice