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FLASH GENE

Symbol

PHF17

contributors: mct/npt - updated : 10/12/2008

HGNC name	PHD finger protein 17
HGNC id	30027

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	4q28.2      Physical location : 129.730.778 - 129.796.378
Synonym name	PHD protein Jade-1
	gene for apoptosis and differentiation in epithelia
Synonym symbol(s)	JADE1, FLJ22479, KIAA1807, Jade-1, Jade-1L

DNA

TYPE	functioning gene
STRUCTURE	65.60 kb     11 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant S 9 splicing 4190 variant S 58 509 - Tzouanacou, Zhou (2005) variant L 11 splicing 5771 variant L 95 842 - Tzouanacou, Zhou (2005)

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	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome
text	localized predominantly in the cell 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 pVHL inactivation and subsequently by increased proteasomal activity

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

INTERACTION

DNA

binding

RNA

small molecule

protein	interacting with the von Hippel Lindau gene product
	HTATIP
	positively regulates MYST2 HAT activity

cell & other

REGULATION

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

Marker

Therapy target

ANIMAL & CELL MODELS