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FLASH GENE

Symbol

PLEKHA8

contributors: mct - updated : 03-12-2014

HGNC name	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
HGNC id	30037

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7p14.3      Physical location : 30.068.287 - 30.130.351
Synonym name	phosphoinositol 4-phosphate adaptor protein-2
	serologically defined breast cancer antigen NY-BR-86
	Golgi-associated four-phosphate adaptor protein 2
Synonym symbol(s)	FAPP2, MGC3358

DNA

TYPE	virus associated
STRUCTURE	89.98 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_032639 13 - 2315 NP_116028 49.3 440 - 2000 11001876 NM_001197027 14 - 2147 NP_001183956 - 459 - 2000 11001876 NM_001197026 14 - 7851 NP_001183955 - 519 - 2000 11001876

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 Nervous brain

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal pleckstrin homology (PH) domain recognizing the Golgi marker, phosphatidylinositol 4-phosphate [PI (4)P]
	a central proline-rich region
	a glycolipid transfer protein (GLTP)–like domain toward the C terminus (Cao 2009)

mono polymer

dimer

HOMOLOGY

interspecies	homolog to murine Plekha8 (91.3pc)
	homolog to rattus Plekha8 (90.6pc)

Homologene

FAMILY

pleckstrin homology domain-containing family A

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
text	failed to localize at the TGN and was present mainly in the Golgi cisternae in cells

basic FUNCTION	adaptor involved in the control of generation of constitutive post-Golgi carriers
	PLEKHA3, PLEKHA8 are essential components of a PtdIns(4)P- and ARF-regulated machinery that controls generation of constitutive post-Golgi carriers
	glucosylceramide-transfer protein that has a pivotal role in the synthesis of complex glycosphingolipids, key structural and signalling components of the plasma membrane (D'Angelo 2007)
	confers resistance to apoptosis and may be a target for cancer therapy (Tritz 2009)
	may be functioning directly in the formation of apical carriers in the trans-Golgi network
	having membrane tubulation activity, that requires a functionally intact PH domain that can bind to PI (4)P
	adaptor protein of phosphatidylinositol-4-phosphate and is involved in the transport of some apical cargos from the trans-Golgi network (TGN) (Yui 2009)
	necessary to generate AQP2-bearing vesicles at trans-Golgi that will undergo phosphorylation by PKA in subapical regions (Yui 2009)
	protein that localizes dynamically with the trans-Golgi network and regulates the transport of proteins from the Golgi complex to the cell surface
	role for FAPP2 as lipid transfer protein involved in glycosphingolipid metabolism at the Golgi complex
	plays a key role in glycosphingolipid (GSL) production using its C-terminal domain to transport newly synthesized glucosylceramide away from the cytosol-facing glucosylceramide synthase in the cis-Golgi for further anabolic processing

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	glycolipid transport

PATHWAY

metabolism

signaling

a component

component of a phosphatidyl-inositol-4-phosphate and ADP-ribosylation factor regulated machinery that controls generation of constitutive post-Golgi carriers

INTERACTION

DNA

RNA

small molecule	other,
	interacting with phosphatidyl-inositol-4-phosphate

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS