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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
DNA
TYPE functioning gene
STRUCTURE 65.60 kb     11 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 splicing 4190 58 509 . JADE1S, JADE1L, and KAT7 were expressed in nuclei of proximal and distal tubular epithelial cells 2013 23159946
  • variant S
  • temporal expression of JADE1S correlated with the acetylation of histone H4 on lysines 5 and 12, but not with acetylation of histone H3 on lysine 14, demonstrating that the JADE1S-KAT7 complex specifically marks H4 during epithelial cell proliferation
  • 11 splicing 5771 95 842 . JADE1S, JADE1L, and KAT7 were expressed in nuclei of proximal and distal tubular epithelial cells 2013 23159946
  • variant L
  • - - 5648 - 842 - 2013 23159946
    - - 5644 - 842 - 2013 23159946
    - - 4083 - 509 - 2013 23159946
    - - 5687 - 842 - 2013 23159946
    - - 5890 - 842 - 2013 23159946
    - - 5736 - 830 - 2013 23159946
    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