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

Gene ID: 43, updated on 19-Jul-2014
Official Symbol
ACHEprovided by HGNC
Official Full Name
acetylcholinesterase (Yt blood group)provided 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]
See ACHE in Epigenomics, MapViewer
Location:
7q22
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (100889994..100896914, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100487615..100493754, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene serrate, RNA effector molecule Neighboring gene UFM1-specific peptidase 1 (non-functional) Neighboring gene ribosomal protein S29 pseudogene 15 Neighboring gene mucin 3A, cell surface associated

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Antigen in Cartwright blood group system
MedGen: C0443844 OMIM: 112100 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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 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 Protein Interaction Database

  • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    ATF-2 transcription factor network, organism-specific biosystem
    ATF-2 transcription factor network
  • Acetylcholine Synthesis, organism-specific biosystem (from WikiPathways)
    Acetylcholine Synthesis, organism-specific biosystemAcetylcholine is an important neurotransmitter. It can be rapidly released in the synaptic cleft upon activation of the neuron. In the synaptic cleft the compound is degraded rapidly into choline and...
  • Biogenic Amine Synthesis, organism-specific biosystem (from WikiPathways)
    Biogenic Amine Synthesis, organism-specific biosystemBiogenic amines are one of two broad classes of classical neurotransmitters (the other being amino acids) and include: acetylcholine, serotonin, histamine, and the catecholamines epinephrine, norepin...
  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
    Glycerophospholipid metabolism, organism-specific biosystem
    Glycerophospholipid metabolism
  • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
    Glycerophospholipid metabolism, conserved biosystem
    Glycerophospholipid metabolism
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Monoamine Transport, organism-specific biosystem (from WikiPathways)
    Monoamine Transport, organism-specific biosystem
    Monoamine Transport
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystem (from REACTOME)
    Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystemNeurotransmitter released in the synaptic cleft binds to specific receptors on the post-synaptic cell and the excess of the neurotransmitter is cleared to prevent over activation of the post-synapti...
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PC, organism-specific biosystem (from REACTOME)
    Synthesis of PC, organism-specific biosystemDe novo (Kennedy pathway) synthesis of phosphatidylcholine (PC) involves phosphorylation of choline (Cho) to phosphocholine (PCho) followed by condensing with cytidine triphosphate (CTP) to form CDP-...
  • Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystem (from REACTOME)
    Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystemGhrelin is a peptide hormone of 28 amino acid residues which is acylated at the serine-3 of the mature peptide. Ghrelin is synthesized in several tissues: X/A-like cells of the gastric mucosa (the ma...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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 
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
 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
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 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
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
 
small molecule metabolic process TAS
Traceable Author Statement
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 component of 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 
Preferred Names
acetylcholinesterase
Names
acetylcholinesterase
Yt blood group
apoptosis-related acetylcholinesterase
NP_000656.1
NP_001269378.1
NP_056646.1

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

  1. NG_007474.1 

    Range
    4950..10927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_000656.1

    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
    pfam08674
    Location:578614
    Blast Score: 224
    AChE_tetra; Acetylcholinesterase tetramerization domain
    COG0657
    Location:132237
    Blast Score: 153
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:40553
    Blast Score: 1399
    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 ...
  2. NM_001282449.1NP_001269378.1  acetylcholinesterase isoform 3 precursor

    See proteins identical to 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
    Conserved Domains (3) summary
    pfam08674
    Location:490526
    Blast Score: 221
    AChE_tetra; Acetylcholinesterase tetramerization domain
    cd00312
    Location:40465
    Blast Score: 1179
    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 ...
    pfam07859
    Location:146394
    Blast Score: 137
    Abhydrolase_3; alpha/beta hydrolase fold
  3. NM_015831.2NP_056646.1  acetylcholinesterase isoform E4-E5 precursor

    See proteins identical to NP_056646.1

    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
    COG0657
    Location:132237
    Blast Score: 151
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:40553
    Blast Score: 1394
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    100889994..100896914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715994.1XP_006716057.1  

    Conserved Domains (3) summary
    pfam08674
    Location:645681
    Blast Score: 226
    AChE_tetra; Acetylcholinesterase tetramerization domain
    COG0657
    Location:199304
    Blast Score: 152
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:107620
    Blast Score: 1407
    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 ...
  2. XM_005250358.1XP_005250415.1  

    See proteins identical to XP_005250415.1

    UniProtKB/Swiss-Prot
    P22303
    Related
    ENSP00000414858, OTTHUMP00000211349, ENST00000428317, OTTHUMT00000347194
    Conserved Domains (3) summary
    pfam08674
    Location:578614
    Blast Score: 224
    AChE_tetra; Acetylcholinesterase tetramerization domain
    COG0657
    Location:132237
    Blast Score: 153
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:40553
    Blast Score: 1399
    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 ...
  3. XM_006715995.1XP_006716058.1  

    See proteins identical to XP_006716058.1

    UniProtKB/Swiss-Prot
    P22303
    Conserved Domains (2) summary
    COG0657
    Location:132237
    Blast Score: 151
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:40553
    Blast Score: 1394
    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 ...
  4. XM_005250357.1XP_005250414.1  

    See proteins identical to XP_005250414.1

    UniProtKB/Swiss-Prot
    P22303
    Related
    ENSP00000404865, OTTHUMP00000211347, ENST00000411582, OTTHUMT00000347191
    Conserved Domains (2) summary
    COG0657
    Location:132237
    Blast Score: 151
    Aes; Esterase/lipase [Lipid metabolism]
    cd00312
    Location:40553
    Blast Score: 1394
    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 ...

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    95117968..95123951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    100418205..100424194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)