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FLASH GENE

Symbol

SLC18A3

contributors: mct/npt - updated : 12-07-2010

HGNC name	solute carrier family 18 (vesicular acetylcholine), member 3
HGNC id	10936

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL10Q11 chromosome 10q11.2 microdeletion/microduplication
Location	10q11.23      Physical location : 50.818.346 - 50.820.765
Synonym name	vesicular acetylcholine transporter
Synonym symbol(s)	VACHT, MGC12716

DNA

TYPE	functioning gene
SPECIAL FEATURE	gene in gene
text	embedded in the first intron of CHAT
STRUCTURE	2.42 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

gene contained uninterrupted in the first intron of CHAT

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003055 1 - 2440 NP_003046 75 532 - Varoqui (1996)

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         Respiratory respiratory tract larynx       Skin/Tegument skin       highly Visual eye

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Skin/Tegument keratinocyte Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve transmembrane spanning segments (12TM)
	a dileucine-containing motif sufficient as a dual signal for both internalization and synaptic vesicles targeting during SLC18A3 trafficking (Colgan 2007)
	C-terminus of the transporter is required for its synaptic vesicles targeting (Colgan 2007)

HOMOLOGY

Homologene

FAMILY	major facilitator superfamily
	vesicular transporter family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic,vesicle
text	localization to synaptic vesicles (Ferreira 2005)

basic FUNCTION	vesicular acetyl-choline transporter
	regulates the amount of acetylcholine stored in synaptic vesicles (Ferreira 2005)
	involved in acetylcholine transport into synaptic vesicles

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL10Q11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in breast cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

VAChT mutant mice have decreased left ventricle function associated with altered calcium handling, and phenotype was attributable to reduced cholinergic tone, since administration of the cholinesterase inhibitor pyridostigmine for 2 weeks reversed the cardiac phenotype in mutant mice (Lara 2010)