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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
Location 4q28.1      Physical location : -
Synonym name
  • PHD protein Jade-1
  • gene for apoptosis and differentiation in epithelia
  • PHD finger protein 17
  • Synonym symbol(s) PHF17, FLJ22479, KIAA1807, Jade-1, Jade-1L
    DNA
    TYPE functioning gene
    STRUCTURE 65.60 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    KIAA1109 4q28.1 hypothetical protein KIAA1109 Tenr 4q28.1 testis nuclear RNA-binding protein IL2 4q26-q27 interleukin 2 IL21 4q26-q27 interleukin 21 FLJ35630 4q28.1 hypothetical protein FLJ35630 FGF2 4q26 fibroblast growth factor 2 (basic) NUDT6 4q26 nudix (nucleoside diphosphate linked moiety X)-type motif 6 SPATA5 4q27 spermatogenesis associated 5 SPRY1 4q26-q27 sprouty homolog 1, antagonist of FGF signaling (Drosophila) LOC391693 4 similar to ribosomal protein L21 LOC391694 4 similar to Peptidylprolyl isomerase A (cyclophilin A) LOC391695 4 similar to Tubulin alpha-4 chain (Alpha-tubulin 4) LOC391696 4 similar to Synaptic glycoprotein SC2 KIAA1223 4q28.1 KIAA1223 protein LOC339951 4q28.1 similar to ENSANGP00000007226 FLJ23056 4q28.1 hypothetical protein FLJ23056 LOC132817 4q28.1 similar to hypothetical protein DKFZp564O0523 KIAA1284 4q28.1 Homo sapiens KIAA1284 protein (KIAA1284), mRNA. DKFZP434N1235 4q28.2 hypothetical protein DKFZp434N1235 APG-1 4q28 heat shock protein (hsp110 family) STK18 MGC33302 4q28.2 hypothetical protein MGC33302 FLJ21106 4q28.2 hypothetical protein FLJ21106 FLJ10378 4q28.2 FLJ10378 protein PGRMC2 4q26 progesterone receptor membrane component 2 JADE1 4q26-q27 PHD protein Jade-1 FLJ30655 4q28.2 hypothetical protein FLJ30655 LOC132321 4q28.2 hypothetical protein LOC132321 LOC391697 4 similar to KIAA1511 protein LOC391698 4 similar to Eukaryotic translation elongation factor 1 gamma HCP14 4q28.2 cytochrome c, somatic pseudogene LOC391699 4 similar to alanyl trna synthetase PCDH10 4q28.3 protocadherin 10 LOC132430 4q28.3 similar to Polyadenylate-binding protein 4 (Poly(A)-binding protein 4) (PABP 4) (Inducible poly(A)-binding protein) (iPABP) (Activated-platelet protein-1) (APP-1) LOC345016 4q28.3 similar to Pescadillo homolog 1 LOC389223 4 similar to eukaryotic translation elongation factor 1 alpha 1-like 14
    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