ACHE acetylcholinesterase (Yt blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACHEprovided by HGNC
Official Full Name: acetylcholinesterase (Yt blood group)provided by HGNC
Primary source: HGNC:HGNC:108
See related: Ensembl:ENSG00000087085 MIM:100740; AllianceGenome:HGNC:108
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. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]
Expression: Broad expression in bone marrow (RPKM 4.6), small intestine (RPKM 3.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100889994..100896994, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102130076..102137081, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100487615..100494614, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Preferential Door for Ligand Binding and Unbinding Pathways in Inhibited Human Acetylcholinesterase.
Title: Preferential Door for Ligand Binding and Unbinding Pathways in Inhibited Human Acetylcholinesterase.
PLA2G4A and ACHE modulate lipid profiles via glycerophospholipid metabolism in platinum-resistant gastric cancer.
Title: PLA2G4A and ACHE modulate lipid profiles via glycerophospholipid metabolism in platinum-resistant gastric cancer.
Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category.
Title: Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category.
Association of NOTCH4 and ACHE gene polymorphism in Alzheimer's disease of Gujarat cohort.
Title: Association of NOTCH4 and ACHE gene polymorphism in Alzheimer's disease of Gujarat cohort.
Acetylcholinesterase, pro-inflammatory cytokines, and association of ACHE SNP rs 17228602 with male infertility.
Title: Acetylcholinesterase, pro-inflammatory cytokines, and association of ACHE SNP rs 17228602 with male infertility.
Identification of two early blood biomarkers ACHE and CLEC12A for improved risk stratification of critically ill COVID-19 patients.
Title: Identification of two early blood biomarkers ACHE and CLEC12A for improved risk stratification of critically ill COVID-19 patients.
Impaired sweating in patients with cholinergic urticaria is linked to low expression of acetylcholine receptor CHRM3 and acetylcholine esterase in sweat glands.
Title: Impaired sweating in patients with cholinergic urticaria is linked to low expression of acetylcholine receptor CHRM3 and acetylcholine esterase in sweat glands.
AChE mRNA expression as a possible novel biomarker for the diagnosis of coronary artery disease and Alzheimer's disease, and its association with oxidative stress.
Title: AChE mRNA expression as a possible novel biomarker for the diagnosis of coronary artery disease and Alzheimer's disease, and its association with oxidative stress.
Cholinesterase homozygous genotype as susceptible biomarker of hypertriglyceridaemia for pesticide-exposed agricultural workers.
Title: Cholinesterase homozygous genotype as susceptible biomarker of hypertriglyceridaemia for pesticide-exposed agricultural workers.
Pharmacophore-based virtual screening and molecular docking to identify promising dual inhibitors of human acetylcholinesterase and butyrylcholinesterase.
Title: Pharmacophore-based virtual screening and molecular docking to identify promising dual inhibitors of human acetylcholinesterase and butyrylcholinesterase.

Submit: New GeneRIF Correction See all GeneRIFs (168)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Antigen in Cartwright blood group system MedGen: C1862189 OMIM: 112100 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. EBI GWAS Catalog EBI GWAS CatalogPubMed
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 Gag, CA, and gp120 proteins co-localizes with CD63 and acetylcholinesterase-associated exosomes from supernatants of HIV-1 expressing cells. The 5' end of the Gag p17 open reading frame is sufficient for HIV-1 RNA exosome incorporation	PubMed
Nef	nef	HIV-1 Nef is detected in detergent-insoluble AChE+/CD81 low/TSG101 low exosomes, but not in detergent-soluble AChE-/CD81 high/TSG101 high exosomes in Nef-transfected 293T cells	PubMed
	nef	HIV-1 Nef increases intracellular expression of CD45 and AChE concomitant with release of Nef, CD45, and AChE	PubMed
	nef	HIV-1 Nef increases the production of exosomes and co-localizes with exosomal proteins CD63, AIP/Alix, AChE, Hsc70, LAMP2, and annexin A2 in HeLa cells	PubMed
Pr55(Gag)	gag	HIV-1 Gag, CA, and gp120 proteins co-localizes with CD63 and acetylcholinesterase-associated exosomes from supernatants of HIV-1 expressing cells. The 5' end of the Gag p17 open reading frame is sufficient for HIV-1 RNA exosome incorporation	PubMed
capsid	gag	HIV-1 Gag, CA, and gp120 proteins co-localizes with CD63 and acetylcholinesterase-associated exosomes from supernatants of HIV-1 expressing cells. The 5' end of the Gag p17 open reading frame is sufficient for HIV-1 RNA exosome incorporation	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17909 (e-PCR)
- UniSTS:9694

STS-M55040 (e-PCR)
- UniSTS:51680

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in acetylcholine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetylcholine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in acetylcholine catabolic process	TAS Traceable Author Statement more info
involved_in acetylcholine catabolic process in synaptic cleft	NAS Non-traceable Author Statement more info	PubMed
involved_in acetylcholine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of synaptic transmission, cholinergic	IC Inferred by Curator more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in osteoblast development	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein secretion	TAS Traceable Author Statement more info	PubMed
involved_in receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in regulation of receptor recycling	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: acetylcholinesterase

Names: Yt blood group; acetylcholinesterase (Cartwright blood group); apoptosis-related acetylcholinesterase

NP_000656.1

EC 3.1.1.7

NP_001269378.1

EC 3.1.1.7

NP_001289550.1

EC 3.1.1.7

NP_001289551.1

EC 3.1.1.7

NP_001354844.1

EC 3.1.1.7

NP_001354846.1

EC 3.1.1.7

NP_001354847.1

EC 3.1.1.7

NP_001354848.1

EC 3.1.1.7

NCBI Reference Sequences (RefSeq)

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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_007474.2 RefSeqGene

Range

5246..11140

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_804

mRNA and Protein(s)

NM_000665.5 → NP_000656.1 acetylcholinesterase isoform E4-E6 precursor

See identical proteins and their annotated locations for NP_000656.1

Status: REVIEWED

Description

Transcript Variant: This variant (E4-E6) encodes the hydrophilic form of acetylcholinesterase, isoform (E4-E6).

Source sequence(s)

AC011895, AK223443

Consensus CDS

CCDS5709.1

UniProtKB/Swiss-Prot

A4D2E2, B7ZKZ0, D6W5X7, P22303, Q16169, Q29S23, Q2M324, Q504V3, Q53F46, Q86TM9, Q86YX9, Q9BXP7

Related

ENSP00000241069.5, ENST00000241069.11

Conserved Domains (2) summary

pfam00135
Location:37 → 563

COesterase; Carboxylesterase family

pfam08674
Location:578 → 611

AChE_tetra; Acetylcholinesterase tetramerisation domain
NM_001282449.2 → NP_001269378.1 acetylcholinesterase isoform 3 precursor

See identical proteins and their annotated locations for NP_001269378.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice acceptor site compared to variant E4-E6. The encoded isoform (3) is shorter than isoform E4-E6

Source sequence(s)

AC011895, AF334270, AK223443

Consensus CDS

CCDS64736.1

UniProtKB/Swiss-Prot

P22303

Related

ENSP00000403474.2, ENST00000419336.6

Conserved Domains (2) summary

pfam08674
Location:490 → 523

AChE_tetra; Acetylcholinesterase tetramerisation domain

pfam00135
Location:37 → 475

COesterase; Carboxylesterase family
NM_001302621.3 → NP_001289550.1 acetylcholinesterase isoform E4-E5 precursor

See identical proteins and their annotated locations for NP_001289550.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, lacks an exon in 3' UTR and 3' coding region and uses an alternate terminal exon, compared to isoform E4-E6. The encoded isoform (4) is longer and has a distinct C-terminus compared to isoform E4-E6.

Source sequence(s)

AC011895, AI831696, BC105060

Consensus CDS

CCDS5710.1

Related

ENSP00000404865.1, ENST00000411582.4

Conserved Domains (1) summary

pfam00135
Location:39 → 563

COesterase; Carboxylesterase family
NM_001302622.2 → NP_001289551.1 acetylcholinesterase isoform E4-E6 precursor

See identical proteins and their annotated locations for NP_001289551.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant E4-E5. Both variant 5 and E4-E6 encode the same protein (isoform E4-E5)

Source sequence(s)

AC011895, BC094752, DA205851

Consensus CDS

CCDS5709.1

UniProtKB/Swiss-Prot

A4D2E2, B7ZKZ0, D6W5X7, P22303, Q16169, Q29S23, Q2M324, Q504V3, Q53F46, Q86TM9, Q86YX9, Q9BXP7

Related

ENSP00000414858.1, ENST00000428317.7

Conserved Domains (2) summary

pfam00135
Location:37 → 563

COesterase; Carboxylesterase family

pfam08674
Location:578 → 611

AChE_tetra; Acetylcholinesterase tetramerisation domain
NM_001367915.1 → NP_001354844.1 acetylcholinesterase isoform E4-E6 precursor

Status: REVIEWED

Source sequence(s)

AC011895

Consensus CDS

CCDS5709.1

UniProtKB/Swiss-Prot

A4D2E2, B7ZKZ0, D6W5X7, P22303, Q16169, Q29S23, Q2M324, Q504V3, Q53F46, Q86TM9, Q86YX9, Q9BXP7

Conserved Domains (2) summary

pfam00135
Location:37 → 563

COesterase; Carboxylesterase family

pfam08674
Location:578 → 611

AChE_tetra; Acetylcholinesterase tetramerisation domain
NM_001367917.1 → NP_001354846.1 acetylcholinesterase isoform E4-E6 precursor

Status: REVIEWED

Source sequence(s)

AC011895

Consensus CDS

CCDS5709.1

UniProtKB/Swiss-Prot

A4D2E2, B7ZKZ0, D6W5X7, P22303, Q16169, Q29S23, Q2M324, Q504V3, Q53F46, Q86TM9, Q86YX9, Q9BXP7

Related

ENSP00000394976.1, ENST00000412389.5

Conserved Domains (2) summary

pfam00135
Location:37 → 563

COesterase; Carboxylesterase family

pfam08674
Location:578 → 611

AChE_tetra; Acetylcholinesterase tetramerisation domain
NM_001367918.1 → NP_001354847.1 acetylcholinesterase isoform 5

Status: REVIEWED

Source sequence(s)

AC011895, KF510962

Conserved Domains (2) summary

pfam00135
Location:104 → 630

COesterase; Carboxylesterase family

pfam08674
Location:645 → 678

AChE_tetra; Acetylcholinesterase tetramerisation domain
NM_001367919.2 → NP_001354848.1 acetylcholinesterase isoform 6

Status: REVIEWED

Source sequence(s)

AC011895, KF510962

Conserved Domains (2) summary

pfam00135
Location:103 → 629

COesterase; Carboxylesterase family

pfam08674
Location:644 → 677

AChE_tetra; Acetylcholinesterase tetramerisation domain

RNA

NR_160407.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC011895, KF510962
NR_160408.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC011895

Related

ENST00000440755.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

100889994..100896994 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

102130076..102137081 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_015831.2: Suppressed sequence

Description

NM_015831.2: This RefSeq was removed because currently there is insufficient support for the transcript. NM_001302621.1 represents a similar splice structure and encodes the same 617 amino acid protein.