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FLASH GENE

Symbol

APBA1

contributors: mct - updated : 30-08-2013

HGNC name	amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)
HGNC id	578

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9q21.11      Physical location : 72.042.448 - 72.287.275
Synonym name	MUNC 18-1 interacting protein 1
	adaptor protein X11alpha
	neuron-specific X11 protein
	phosphotyrosine-binding/-interacting domain (PTB)-bearing protein
Synonym symbol(s)	X11, X11A, MINT1, D9S411E, LIN10, X11ALPHA

DNA

TYPE	functioning gene
STRUCTURE	244.83 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	has multiple transcription start sites
	minimal promoter was found to be located between -224 and +14, a GC-rich region that contains a functional Sp3 binding site. In neurons, overexpression of Sp3 stimulates the APBA1 promoter while an Sp3 inhibitor suppresses the promoter activity

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_001163 13 - 6603 NP_001154 - 837 - 2004 14756819

EXPRESSION

Type	restricted

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 hindbrain cerebellum       brain         Homo sapiens   spinal cord

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal domain binded to MINC18-1 putative transmembrane segment
	middle phosphotyrosine domain
	two C terminal PDZ domains, and through its PDZ domains, interacts with a novel transcription factor, fibrinogen silencer binding protein

HOMOLOGY

interspecies

homolog to C09H6-2

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus

basic FUNCTION	role in assembly of proteins involved in synaptic vesicle exocytosis and synaptic junctions
	putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion
	impairs gamma- but not beta-cleavage of amyloid precursor protein
	modulates secretory and endocytic trafficking and metabolism of amyloid precursor protein

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

CASK, APBA1, VELI1

INTERACTION

DNA

RNA

small molecule

protein	with CASK and VELI1
	binds to the cytoplasmic domain of the amyloid precursor protein (APP) to modulate its trafficking and metabolism
	neuronal adaptor protein that interacts with the amyloid precursor protein (APP) through a centrally located phosphotyrosine binding domain to inhibit the production of Abeta peptide
	CASKIN1 and APBA1 interaction with CASK
	STXBP1 is a central regulator of neurotransmitter release, interacting with STX1A and APBA1
	APBA1-dependent endocytosis in dendrites may serve to promote the axonal localization of membrane proteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   deregulation of APBA1 may be important for Alzheimer disease pathogenesis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS