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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024900 9 splicing 4190 NP_079176 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 NM_199320 11 splicing 5771 NP_955352 95 842 . JADE1S, JADE1L, and KAT7 were expressed in nuclei of proximal and distal tubular epithelial cells 2013 23159946 variant L NM_001287443 - - 5648 NP_001274372 - 842 - 2013 23159946 NM_001287442 - - 5644 NP_001274371 - 842 - 2013 23159946 NM_001287441 - - 4083 NM_001287441 - 509 - 2013 23159946 NM_001287440 - - 5687 NP_001274369 - 842 - 2013 23159946 NM_001287439 - - 5890 NP_001274368 - 842 - 2013 23159946 NM_001287437 - - 5736 NP_001274366 - 830 - 2013 23159946

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly Lymphoid/Immune lymph node       highly Nervous brain       highly Reproductive female system breast mammary gland   highly   male system prostate     highly Urinary kidney tubule convoluted tubule proximal tubule highly

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   renal cancer

Susceptibility

Variant & Polymorphism

Candidate gene	candidate biomarker and tumor suppressor in clear-cell renal cell carcinomas
Marker
Therapy target
	System Type Disorder Pubmed tumor kidney polycystic kidney may be an important therapeutic target in renal cystogenesis

ANIMAL & CELL MODELS