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FLASH GENE
Symbol ZNF513 contributors: mct - updated : 22-05-2009
HGNC name zinc finger protein 513
HGNC id 26498
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight C2H2-type zinc fingers
    • HOMOLOGY
    interspecies ortholog to murine Zfp513
    Homologene
    FAMILY
  • krueppel C2H2-type zinc-finger protein family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in transcription regulation
  • plays a key role in the regulation of photoreceptor-specific genes in retinal development and photoreceptor maintenance
  • important role not only for eye and retinal development but also for maintenance of the adult retina
  • possible role for ZNF513 as a transcriptional regulator
  • role in eye development that is potentially mediated through its interaction with the PAX6 promoter
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein binds to the PAX6, Sp4, ARR3, RBP3, and photoreceptor opsin promoters
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARRP20
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS