ACHE acetylcholinesterase [Homo sapiens] - Gene

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Summary

Official Symbol: ACHEprovided by HGNC
Official Full Name: acetylcholinesteraseprovided by HGNC
Primary source: HGNC:108
See related: Ensembl:ENSG00000087085; HPRD:00010; MIM:100740; Vega:OTTHUMG00000157033
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: YT; ACEE; ARACHE; N-ACHE
Summary: Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q22

Sequence :: Chromosome: 7; NC_000007.13 (100487615..100493541, complement)

See ACHE in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Low plasma AChE activity can be a useful candidate biomarker to identify subjects at greater risk of developing postoperative delirium.
Title: Low preoperative plasma cholinesterase activity as a risk marker of postoperative delirium in elderly patients.
The activation of the Akt cascade abolished the 55 kDa protein, and both AChE protein forms (68 and 55 kDa) accumulated in the nucleus during apoptosis.
Title: Induction of a 55 kDa acetylcholinesterase protein during apoptosis and its negative regulation by the Akt pathway.
The N-linked glycosylation of AChE(T) plays a major role for acquisition of AChE full enzymatic activity but does not affect its oligomerization.
Title: The assembly of proline-rich membrane anchor (PRiMA)-linked acetylcholinesterase enzyme: glycosylation is required for enzymatic activity but not for oligomerization.
Oxime-assisted acetylcholinesterase catalytic scavengers of organophosphates that resist aging
Title: Oxime-assisted acetylcholinesterase catalytic scavengers of organophosphates that resist aging.
certain SNPs in ACHE gene correlated with catalytic properties and cardiovascular functions; identified 19 SNPs; allelic and haplotype variations in ACHE associated with changes in blood AChE activities; AChE activity was associated with BP status and SBP
Title: Naturally occurring variations in the human cholinesterase genes: heritability and association with cardiovascular and metabolic traits.
The AChE the A allele was found significantly more frequent in patients than in controls (0.437 vs. 0.332; p=0.002).
Title: Variation of the butyrylcholinesterase (BChE) and acetylcholinesterase (AChE) genes in coronary artery disease.
The increased maternal AChE and Na(+), K(+)-ATPase activities may be due to the low total antioxidant status determined post vaginal delivery, whereas their decreased activities in prematures to their immaturity.
Title: Erythrocyte membrane AChE, Na(+), K(+)-ATPase and Mg(2+) ATPase activities in mothers and their premature neonates in relation to the mode of delivery.
Acetylcholinesterase, a key prognostic predictor for hepatocellular carcinoma, suppresses cell growth and induces chemosensitization.
Title: Acetylcholinesterase, a key prognostic predictor for hepatocellular carcinoma, suppresses cell growth and induces chemosensitization.
Data show that kidney and renal tumours showed comparable levels of acetylcholinesterase mRNA, the content of butyrylcholinesterase mRNA was increased 10-fold in pRCC.
Title: Expression of cholinesterases in human kidney and its variation in renal cell carcinoma types.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all (84)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.

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Products	Interactant	Other Gene	Source	Pubs	Description
P22303	P22303	ACHE	HPRD	PubMed
P22303	P05067	APP	HPRD	PubMed
P22303	P02462	COL4A1	HPRD	PubMed
P22303	Q9Y215	COLQ	HPRD	PubMed
P22303	P41214	EIF2D	HPRD	PubMed
P22303	O96004	HAND1	HPRD	PubMed
P22303	P25391	LAMA1	HPRD	PubMed
P22303	P07942	LAMB1	HPRD	PubMed
P22303	Q86XR5	PRIMA1	HPRD	PubMed
BioGRID:106561	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:106561	BioGRID:107674	COL1A1	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
acetylcholine binding	IDA Inferred from Direct Assay more info	PubMed
acetylcholine binding	NAS Non-traceable Author Statement more info	PubMed
acetylcholinesterase activity	IDA Inferred from Direct Assay more info	PubMed
acetylcholinesterase activity	IMP Inferred from Mutant Phenotype more info	PubMed
beta-amyloid binding	TAS Traceable Author Statement more info	PubMed
carboxylesterase activity	IBA Inferred from Biological aspect of Ancestor more info
cholinesterase activity	IDA Inferred from Direct Assay more info	PubMed
collagen binding	IDA Inferred from Direct Assay more info	PubMed
hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
laminin binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	NAS Non-traceable Author Statement more info	PubMed
protein self-association	IEA Inferred from Electronic Annotation more info
serine hydrolase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
DNA replication	TAS Traceable Author Statement more info	PubMed
acetylcholine catabolic process	IDA Inferred from Direct Assay more info	PubMed
acetylcholine catabolic process in synaptic cleft	NAS Non-traceable Author Statement more info	PubMed
amyloid precursor protein metabolic process	TAS Traceable Author Statement more info	PubMed
cell adhesion	IDA Inferred from Direct Assay more info	PubMed
cell adhesion	TAS Traceable Author Statement more info	PubMed
cell proliferation	TAS Traceable Author Statement more info	PubMed
choline metabolic process	IBA Inferred from Biological aspect of Ancestor more info
muscle organ development	TAS Traceable Author Statement more info	PubMed
negative regulation of synaptic transmission, cholinergic	IC Inferred by Curator more info	PubMed
nervous system development	TAS Traceable Author Statement more info	PubMed
neurotransmitter biosynthetic process	TAS Traceable Author Statement more info
neurotransmitter receptor biosynthetic process	IEA Inferred from Electronic Annotation more info
osteoblast development	IEP Inferred from Expression Pattern more info	PubMed
positive regulation of protein secretion	TAS Traceable Author Statement more info	PubMed
protein tetramerization	IEA Inferred from Electronic Annotation more info
receptor internalization	IEA Inferred from Electronic Annotation more info
regulation of axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
regulation of dendrite morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
regulation of receptor recycling	IEA Inferred from Electronic Annotation more info
response to wounding	TAS Traceable Author Statement more info	PubMed
retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
synapse assembly	TAS Traceable Author Statement more info	PubMed
synaptic transmission	TAS Traceable Author Statement more info
synaptic transmission, cholinergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
anchored to membrane	IEA Inferred from Electronic Annotation more info
axon	IBA Inferred from Biological aspect of Ancestor more info
basal lamina	NAS Non-traceable Author Statement more info	PubMed
cell junction	IEA Inferred from Electronic Annotation more info
cell surface	IBA Inferred from Biological aspect of Ancestor more info
dendrite	IBA Inferred from Biological aspect of Ancestor more info
endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
extracellular region	IDA Inferred from Direct Assay more info	PubMed
extracellular region	TAS Traceable Author Statement more info	PubMed
extracellular space	IBA Inferred from Biological aspect of Ancestor more info
membrane	IDA Inferred from Direct Assay more info	PubMed
neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
nucleus	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
synapse	IDA Inferred from Direct Assay more info	PubMed
synaptic cleft	NAS Non-traceable Author Statement more info	PubMed

General protein information

Preferred Names: acetylcholinesterase

Names: acetylcholinesterase; Yt blood group; apoptosis-related acetylcholinesterase

NP_000656.1

EC 3.1.1.7

NP_056646.1

EC 3.1.1.7

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007474.1 RefSeqGene

Range

5001..10927

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000665.3 → NP_000656.1 acetylcholinesterase isoform E4-E6 precursor

Status: REVIEWED

Description

Transcript Variant: The splice variant E4-E6 is the major, and ubiquitously expressed, transcript. It results from the splicing of exon 4 to exon 6, and encodes the hydrophilic form of acetylcholinesterase.

Source sequence(s)

AC011895, AK223443, BC036813, BC105060, BG707892

Consensus CDS

CCDS5709.1

UniProtKB/Swiss-Prot

P22303

Related

ENSP00000241069, OTTHUMP00000211345, ENST00000241069, OTTHUMT00000347189

Conserved Domains (3) summary

cd00312
Location:40 – 553
Blast Score: 1240

Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

pfam08674
Location:578 – 614
Blast Score: 218

AChE_tetra; Acetylcholinesterase tetramerisation domain

pfam00135
Location:41 – 563
Blast Score: 1548

COesterase; Carboxylesterase family
NM_015831.2 → NP_056646.1 acetylcholinesterase isoform E4-E5 precursor

Status: REVIEWED

Description

Transcript Variant: The splice variant E4-E5 is primarily expressed in erythroid tissues, and appears to encode the PI-linked form of acetylcholinesterase. It results from tissue-specific alternative splicing of exon 4 to exon 5.

Source sequence(s)

AC011895, AK223443, BC036813, BC105060, BG707892

Consensus CDS

CCDS5710.1

UniProtKB/Swiss-Prot

P22303

Related

ENSP00000303211, ENST00000302913

Conserved Domains (2) summary

cd00312
Location:40 – 553
Blast Score: 1233

Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

pfam00135
Location:41 – 563
Blast Score: 1547

COesterase; Carboxylesterase family

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

100487615..100493541, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

95117968..95123900, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

99847220..99853146, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011895.4	AAP22364.1
		AAP22365.1
genomic	AF002993.1	None
genomic	AF312032.1	AAK21003.1
genomic	AY750146.1	AAU43801.1
genomic	CH236956.1	EAL23812.1
		EAL23813.1
genomic	CH471091.2	EAW76460.1
		EAW76461.1
		EAW76462.1
		EAW76463.1
		EAW76464.1
genomic	L06484.1	None
genomic	L42812.1	None
genomic	S71129.1	AAC60618.1
mRNA	AF334270.1	AAO32948.1
mRNA	AK223443.1	BAD97163.1
mRNA	AK291321.1	BAF84010.1
mRNA	AY389977.1	AAR26654.1
mRNA	BC001541.1	None
mRNA	BC026315.1	None
mRNA	BC036813.1	AAH36813.1
mRNA	BC094752.1	None
mRNA	BC105060.1	AAI05061.1
mRNA	BC105062.1	AAI05063.1
mRNA	BC143469.1	AAI43470.1
mRNA	BG707892.1	None
mRNA	M55040.1	AAA68151.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P22303.1	GenPept	UniProtKB/Swiss-Prot:P22303
Q6TQD3	GenPept	UniProtKB/TrEMBL:Q6TQD3

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Additional Links

Epigenomics
MIM 100740
Blood Group Antigen Gene Mutation Database (BGMUT) yt
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives bioweb.ensam.inra.fr/esther
UCSC UCSC
dbRBC Sequence Alignment Viewer dbRBC Sequence Alignment Viewer
UniGene Hs.154495