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FLASH GENE

Symbol

WIPI1

contributors: SGE/npt - updated : 06-04-2010

HGNC name	WD repeat domain, phosphoinositide interacting 1
HGNC id	25471

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17q24.2      Physical location : 66.417.422 - 66.453.653
Synonym name	WD40 repeat protein Interacting with phosphoInositides of 49kDa
	WIPI-1 alpha
	Atg18 protein homolog
Synonym symbol(s)	Atg18, FLJ10055, WIPI49

DNA

TYPE	functioning gene
STRUCTURE	36.23 kb     13 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 NM_017983 13 - 1939 NP_060453 - 446 - -

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 Cardiovascular heart       highly Endocrine parathyroid       highly Nervous brain hindbrain cerebellum   highly Reproductive female system placenta     highly   male system testis     highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Muscular striatum skeletal   highly

cell lineage
cell lines	G361, Sk-mel-28, Sk-mel-13, WM852 and WM451 cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	LXXLL signature motifs for nuclear receptor interactions
	three WD repeats

HOMOLOGY

interspecies	homolog to murine Wipi1 (94.4pc)
	homolog to rattus Wipi1 (94.3pc)

Homologene

FAMILY

WIPI subfamily of WD40 repeat proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,vesicle
text	trans-elements of the Golgi and peripheral endosomes, clathrin-coated vesicles

basic FUNCTION	may play a role in autophagy, and autophagic capacity may be compromised in cancers (Proikas-Cezanne 2007)
	may regulate the trafficking of proteins involved in the
	mannose-6-phosphate receptor (MPR) recycling pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

regulatory component of the endosomal and mannose-6-phosphate receptor pathway (Jeffries 2004)

INTERACTION

DNA

RNA

small molecule	other,
	binding phosphatidyl-inositol-3-phosphate, PtdIns3,5P2

protein	probably interacts with androgen (AR) and the estrogen receptor (ER)
	interacting with RAR, RXR (Proikas-Cezanne 2004)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         upregualted in various tumor tissues

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS