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FLASH GENE

Symbol

APBA3

contributors: mct/npt - updated : 08-09-2012

HGNC name	amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2)
HGNC id	580

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Reproductive male system testis     lowly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	at the N terminus, several putative SH3 binding motifs three protein-protein interaction domains, and a nuclear export signal (NES), mutation of which induces nuclear accumulation of EGFP-APBA3 in the absence of leptomycin B
	a phosphotyrosine-binding (PTB) domain essential for the binding of FURIN (this binding affects the TGN-specific localization of FURIN)
	a PID/PTB and two C terminal PDZ elements

HOMOLOGY

interspecies

homolog to C.elegans k03d3.6

Homologene

FAMILY

X11 protein family

CATEGORY

adaptor , signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
text	attached to the plasma membrane by C terminal PDZ domains

basic FUNCTION	modulating processing of the beta-APP and hence formation of beta-APP
	stimulates MMP24 activity when expressed at low levels in an EWV-dependent fashion, but inhibits its activity at higher levels independent of the EWV motif
	potentially functions in the nucleus by a mechanism distinct from conventional transactivators
	adaptor scaffolding protein involved in formation of multiprotein complexes, and trafficking and metabolism of membrane proteins such as the beta-amyloid precursor protein
	may be the adaptor proteins that regulate the trafficking of MMP24
	regulates FURIN distribution mainly through interaction with the acidic peptide signal of Furin
	regulates the HIF1AN-HIF1A pathway, which controls ATP production in macrophages

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

HIF1AN forms a complex with APBA3, and these two factors co-localize within the perinuclear region

INTERACTION

DNA

RNA

small molecule

protein	Alzheimer beta-amyloid precursor protein (APP)-(cytoplasmic domain)
	BCR (breakpoint cluster region) protein binds to PDZ-domain vesicle coat protein APBA3
	MMP14 activates HIF1A via APBA3 in many types of cell so as to stimulate glycolysis
	interaction with MMP14 (APBA3-dependent mechanism represents the effect of MMP14 on ATP production in macrophages)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   decreases macrophage invasion constitutional     --low   abrogates MMP14-mediated ATP production and ATP-dependent cell motility

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology inflammatory   potential new therapeutic target to regulate macrophage-mediated inflammation

ANIMAL & CELL MODELS