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FLASH GENE
Symbol JADE1 contributors: mct/npt - updated : 16-01-2014
HGNC name jade family PHD finger 1
HGNC id 30027
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Lymphoid/Immunelymph node   highly
Nervousbrain   highly
Reproductivefemale systembreastmammary gland highly
 male systemprostate  highly
Urinarykidneytubuleconvoluted tubuleproximal tubulehighly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two zinc finger motifs called plant homeodomains (PHD), indispensable for Jade-1 nuclear functions
  • one canonical Cys4HisCis3 plant homology domain (PHD)
  • a noncanonical extended PHD domain, which are zinc-binding motifs
  • a candidate destabilizing (PEST) motif
  • HOMOLOGY
    interspecies ortholog to murine Phf17
    Homologene
    FAMILY
  • JADE family
  • CATEGORY enzyme , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,chromatin/chromosome
    text
  • localized predominantly in the cell nucleus
  • NPHP4 stabilizes protein levels of JADE1 and promotes the translocation of JADE1 to the nucleus
  • basic FUNCTION
  • being a possible transcriptional activator
  • associated with HAT activity specific for histone H4
  • may play a key role in the pathogenesis of renal cancer and von Hippel-Lindau disease
  • short-lived, kidney-enriched transcription factor stabilized by direct interaction with VHL and may be renal tumor suppressor
  • can promote endogenous histone H4 acetylation by associating with a histone H4-specific endogenous HAT
  • may suppress renal cancer cell growth in part by increasing apoptosis and may represent a proapoptotic barrier to proliferation that must be overcome generally in renal cancer, perhaps initially by VHL inactivation and subsequently by increased proteasomal activity
  • ubiquitin ligase targeting the canonical WNT downstream effector CTNNB1 for proteasomal degradation
  • NPHP4 and JADE1 additively inhibit canonical WNT signaling
  • pro-apoptotic and growth suppressive ubiquitin ligase for beta-catenin and transcriptional coactivator associated with histone acetyltransferase activity that is stabilized by VHL in a manner that correlates with risk of VHL renal disease
  • is required for cell proliferation
  • CELLULAR PROCESS cell life, proliferation/growth
    cell life, cell death/apoptosis
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text
  • negative regulation of cell growth
  • response to stress
  • PATHWAY
    metabolism
    signaling
    a component
  • might be an essential component of a HAT complex
  • novel component of the NPHP protein complex
  • PHF17-KAT7 complex implicated in acute kidney injury, suggesting distinct roles for PHF17 isoforms during epithelial cell recovery
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with the von Hippel Lindau gene product
  • HTATIP
  • positively regulates MYST2 HAT activity
  • colocalizes with NPHP1 at the transition zone of primary cilia and interacts with NPHP4
  • bind KAT7 and promote acetylation of histones in chromatin context
  • N-terminus of JADE1 bound both the catalytic domain and the C-terminal regulatory tail of AKT1, suggesting a mechanism through which JADE1 inhibited AKT1 kinase activity
  • cell & other
    REGULATION
    Other its activity is regulated by PKD1 in a manner that is physiologic and may correlate with disease
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    renal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • candidate biomarker and tumor suppressor in clear-cell renal cell carcinomas
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    tumorkidneypolycystic kidney
    may be an important therapeutic target in renal cystogenesis
    ANIMAL & CELL MODELS