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FLASH GENE

Symbol

ACHE

contributors: mlc/npt/pgu - updated : 19-09-2023

HGNC name	acetylcholinesterase (Yt blood group)
HGNC id	108

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	YT YT blood group
Location	7q22.1      Physical location : 100.487.615 - 100.493.541
Synonym name	Cartwright blood group
	acetylcholinesterase PI-linked form precursor
	acetylcholinesterase hydrophilic form precursor
	apoptosis-related acetylcholinesterase
Synonym symbol(s)	YT, ARACHE, N-ACHE, ACEE
EC.number	3.1.1.7

DNA

TYPE	functioning gene
STRUCTURE	7.01 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

Promoter

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	all of these three variants contain the exons E1, E2, E3, and E4 at its N terminus, diverging in their C terminus sequence

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000665 5 - 2225 NP_000656 67 614 ubiquitous 2007 17606622 also called ACHE - Variant E4-E6, or ACHE-S synaptic form, which is the most frequent splicing variant in brain and muscle cells, adds just one more exon to the common core, E6 NM_015831 5 splicing 2978 NP_056646 - 617 erythroid tissues 2007 17606622 also called ACHE - Variant E4-E5, or ACHE-R having exon E5 readthrough (AChE-E) differs from the erythrocyte (AChE-S) by the possession of an additional intron I4 variant 3 - - - 55 - in endothelial cells, but also in non-neuronal and neuronal cells 2007 17606622 decreased in response to vascular endothelial growth factor via the proteosomes pathway may contribute to an angiogenic response and associate with tumorigenesis exclusively nuclear expression in postnatal neurons in contrast to a cytoplasmic and nuclear expression in embryonic neurons in the nuclear and insoluble cytoskeleton fractions NM_001367919 5 - 2527 NP_001354848 - 680 - 2007 17606622 NM_001367918 5 - 2530 NP_001354847 - 681 - 2007 17606622 NM_001302622 5 - 2156 NP_001289551 - 614 - 2007 17606622 NM_001282449 5 - 1908 NP_001269378 - 526 - 2007 17606622 NM_001367915 5 - 2175 NP_001354844 - 614 - 2007 17606622 NM_001302621 5 - 2928 NP_001289550 - 617 - 2007 17606622 NM_001367917 5 - 2159 NP_001354846 - 614 - 2007 17606622

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 Digestive mouth tongue     highly Nervous spinal cord anterior horn     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum       Homo sapiens Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	two putative HNF3 binding sites (one is HNF3 binding enhancer domain)
	a structural site promoting neurite outgrowth and binding laminin-1 and collagen IV

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Ache

Homologene

FAMILY

type b carboxylesterase/lipase family

CATEGORY

enzyme , signaling neurotransmitter

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus
	intracellular,nuclear envelope
text	membrane
	the catalytic subunits of acetylcholinesterase (ACHE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ

basic FUNCTION	responsible for the hydrolysis of the neurotransmitter acetylcholine and therefore the termination of the neural impulse
	involved in the signal transmission at neuromuscular junction
	hydrolyzing the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission
	associates differently with its anchoring proteins COLQ and PRiMA1
	terminates signal transmission at chemical synapses by degrading the neurotransmitter acetylcholine and was found to play a role in plaque formation in Alzheimer disease
	responsible for the hydrolysis of the neurotransmitter, acetylcholine, in the nervous system
	implicated in the pathogenesis of Alzheimer disease (AD) and it has been shown that it accelerates formation and increases toxicity of amyloid fibrils, which have been closely linked to the pathology of AD
	can be considered a highly co-opting protein, which can combine enzymatic and non-enzymatic functions within one molecule
	ACHE is a cholinergic and agrin a synaptogenetic component of the neuromuscular junction
	common features of ACHE and agrin extend to their capacity to play multiple roles in muscle development
	ACHE hydrolyzes acetylcholine (ACh) to acetate and choline and thereby terminates nerve impulse transmission
	role of ACHE in erythroblast maturation, which provided an insight in elucidating possible mechanisms in regulating erythropoiesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission

a component

homotetramer, composed of disulfide-linked homodimers

INTERACTION

DNA

RNA

small molecule

protein	interacting with PRIMA1, interaction required to anchor it to the basal lamina of cells and organize into tetramers
	PUM2 binds to the ACHE transcripts in a complex and regulates ACHE expression translationally at the neuromuscular synapse
	ACHE activity in plasma is correlated with brain APP load
	interaction of COLQ to perlecan and MUSK is crucial for anchoring ACHE to the neuromuscular junction (NMJ)
	COLQ anchors acetylcholinesterase (ACHE) in the synaptic cleft of the neuromuscular junction (NMJ)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

YT

related resource

Blood Group Antigen Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in Alzheimer disease (AD) decrease in the enzymatic activity of the enzyme acetylcholinesterase

Susceptibility

to neurodegenerative diseases

Variant & Polymorphism other	variants putatively involved in neurodegenerative diseases

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer AChE) enzyme inhibition is an important target for the management of Alzheimer disease (AD) and ACHE inhibitors are the main stay drugs for its management neurology neurodegenerative alzheimer Acetylcholinesterase (AChE) has obtained a renewed interest as a therapeutic target in Alzheimer's disease (AD) due to increased neural cells' function by increasing the concentration of acetylcholine

ANIMAL & CELL MODELS

significant decrease in trabecular perimeter of lumbar vertebrae and cortical area fraction (Ct.Ar/Tt.Ar) in the mid-diaphysis of femurs of AChE-KO mice compared to their WT