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Symbol ZNHIT3 contributors: mct - updated : 10-12-2021
HGNC name zinc finger, HIT type 3
HGNC id 12309
Corresponding disease
PEHO PEHO syndrome, progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy
Location 17q12      Physical location : 34.842.472 - 34.851.662
Synonym name
  • thyroid hormone receptor interactor 3
  • HNF-4a coactivator
  • zinc finger HIT domain-containing protein 3
    • Synonym symbol(s) TRIP3, TRIP-3, Hit1, PEHO
    DNA
    TYPE functioning gene
    STRUCTURE 9.19 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 871 - 80 - 2016 27594683
    5 - 2012 - 148 - 2016 27594683
    5 - 905 17.5 155 - 2016 27594683
    3 - 737 - 99 - 2016 27594683
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a ZN-HIT zinc-finger domain, which consists in a treble-clef fold around two zinc atoms
    • HOMOLOGY
    Homologene
    FAMILY
  • zinc finger family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • contribute to the box C/D snoRNP assembly pathway
  • ZNHIT3 would thus act as a lock that would be unlocked with the arrival of the proper snoRNA and the simultaneous binding of NOP58 to the C/D motif
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ZNHIT3(TRIP3) showing sequence homology with Hit1p regulates the abundance of NUFIP1
  • ZNHIT3/Hit1p was required to maintain steady-state levels of NUFIP1
  • C-terminal part of NUFIP1 was involved in the direct binding of ZNHIT3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PEHO
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS